text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 9 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: family id

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: ND21880 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


status: PUBLIC

tag: attribute

characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 63 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Phenotypically normal;46;XY

characteristic: description

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Apparently healthy non-fetal tissue

characteristic: tag

text: GM11854 male unaffected Apparently healthy non-fetal tissue sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Myasthenia gravis

text: 68 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Diplopia and ptosis;onset at age 52;on Prednisone;occasional flairs with complaints of weakness in arms and legs or ptosis;elevated acetylcholine receptor antibody titers;4 affected sibs;has noninsulin dependent diabetes mellitus

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Myasthenia gravis

text: MG

text: GM11858 male affected Myasthenia gravis sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 64 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: family id

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: ND21894 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: CF

text: 57 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;mild pulmonary disease with pancreatic exocrine sufficiency and elevated sweat chloride;donor subject is homozygous for G-to-A substitution at nucleotide 2789 + 5 in intron 14b which results in an mRNA splicing defect (2789 +5G>A);analysis of a DNA variant in a noncoding region of the CFTR gene (polypyrimidine tract in intron 8) showed this donor has alleles 7T/7T

text: CFTR

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Human gene mutation panel - cystic fibrosis (version 2)

text: CF

text: Cystic fibrosis

text: Cystic fibrosis transmembrane conductance regulator

text: CFTR

text: GM11859 female affected CF sample


text: Coriell

text: live

text: Generic

text: 30 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: sister

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Unrelated condition upon exam

text: ND21895 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: CF

text: 21 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;homozygous for 3849 +10kb;C>T mutation;analysis of a DNA variant in a noncoding region of the CFTR gene (polypyrimidine tract in intron 8) showed this donor has alleles 7T/7T;Pakistani;mild pulmonary disease with pancreatic exocrine sufficiency and normal sweat chloride;donor subject is heterozygous for a C>T change at nucleotide 416 (416C>T) in exon 3 of the CYP2C9 gene (CYP2C9*2) which results in a substitution of cysteine for arginine at codon 144 Arg144Cys (R144C)

characteristic: description

text: PAKISTANI

characteristic: ethnicity

text: CFTR

text: C>T (3849+10kbC>T)

text: +10 KB

text: Homo sapiens

text: Asiatic Indian

text: Female

characteristic: sex

characteristic: tag

text: Cytochrome p450, subfamily iic, polypeptide 9

text: CF

text: Cystic fibrosis

text: CFTR

text: GM11860 female affected CF sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 30 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: family id

text: daughter

text: Homo sapiens

text: African American

text: Female

text: Unrelated condition upon exam

text: ND21896 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Daughter

text: UTAH/MORMON

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/utah pedigree 1347

text: GM11870 female unaffected Ceph/utah pedigree 1347 sample


text: Coriell

text: live

text: Generic

text: 51 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: ND21899 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son

characteristic: description

text: UTAH/MORMON

characteristic: ethnicity

text: son

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Ceph/utah pedigree 1347

text: GM11871 male unaffected Ceph/utah pedigree 1347 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 52 YR

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: ND21900 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Son

text: UTAH/MORMON

characteristic: family id

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 1347

text: GM11872 male unaffected Ceph/utah pedigree 1347 sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Progressive supranuclear palsy

text: 67 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: African American

text: Male

text: Progressive supranuclear palsy

text: ND21901 male affected Progressive supranuclear palsy sample


text: Coriell

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Son

text: UTAH/MORMON

text: son

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Ceph/utah pedigree 1347

text: GM11873 male unaffected Ceph/utah pedigree 1347 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 65 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

text: African American

characteristic: race

text: Female

text: Population/convenience control

text: ND21902 female unaffected Population/convenience control sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Daughter

characteristic: description

text: UTAH/MORMON

characteristic: ethnicity

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Ceph/utah pedigree 1347

text: GM11875 female unaffected Ceph/utah pedigree 1347 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 58 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND21907 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Son

text: UTAH/MORMON

characteristic: family id

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 1347

text: GM11876 male unaffected Ceph/utah pedigree 1347 sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 64 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: husband

text: Homo sapiens

text: Caucasian

text: Male

text: ND21926 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son

text: UTAH/MORMON

text: son

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Ceph/utah pedigree 1347

text: GM11877 male unaffected Ceph/utah pedigree 1347 sample


text: Coriell

text: live

text: Generic

text: 62 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: wife

text: Homo sapiens

text: Caucasian

text: Female

text: Control

text: Population/convenience control

text: ND21927 female unaffected Control sample


text: Coriell

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son

characteristic: description

text: UTAH/MORMON

characteristic: ethnicity

text: son

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Ceph/utah pedigree 1347

text: GM11878 male unaffected Ceph/utah pedigree 1347 sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Paternal Grandfather

text: UTAH/MORMON

text: paternal grandfather

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 1347

characteristic: tag

text: GM11879 male unaffected Ceph/utah pedigree 1347 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Paternal Grandmother

text: UTAH/MORMON

text: paternal grandmother

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/utah pedigree 1347

text: GM11880 female unaffected Ceph/utah pedigree 1347 sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Tourette syndrome

text: 32 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Tourette syndrome

text: ND21934 female affected Tourette syndrome sample


characteristic: Coriell plate

characteristic: HapMap sample ID

text: Coriell

characteristic: INSDC center name

characteristic: INSDC secondary accession

text: live

text: Generic

text: Utah Residents (CEPH) with Northern and Western European ancestry

characteristic: Population Description

characteristic: SRA accession

text: EUR

characteristic: Super Population Code

text: European

characteristic: Super Population Description

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

characteristic: culture collection

text: Maternal Grandfather

text: UTAH/MORMON

text: maternal grandfather

text: Homo sapiens

characteristic: organism

text: CEU

characteristic: population

text: Caucasian

characteristic: race

text: male

text: International hapmap project - ceph (plate i) utah residents with ancestry from northern and western europe

text: Coriell GM11881


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Tourette syndrome

text: 34 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Tourette syndrome

characteristic: tag

text: ND21935 male affected Tourette syndrome sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Maternal Grandmother

characteristic: description

text: UTAH/MORMON

characteristic: ethnicity

characteristic: family id

text: maternal grandmother

text: Homo sapiens

text: Caucasian

text: Female

text: Cytochrome p450, subfamily iic, polypeptide 19

text: International hapmap project - ceph utah residents with ancestry from northern and western europe

text: Ceph/utah pedigree 1347

text: GM11882 female unaffected International hapmap project - ceph (plate i) utah residents with ancestry from northern and western europe sample


text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 8 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Tourette syndrome

text: ND21936 male affected Tourette syndrome sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son

text: UTAH/MORMON

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 1347

text: GM11883 male unaffected Ceph/utah pedigree 1347 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Epilepsy

text: 13 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: sibling

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy

text: ND21937 male affected Epilepsy sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Son

text: UTAH/MORMON

text: son

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Ceph/utah pedigree 1377

characteristic: tag

text: GM11884 male unaffected Ceph/utah pedigree 1377 sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Epilepsy

text: 13 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy

text: ND21938 male affected Epilepsy sample

characteristic: title


text: Coriell

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Son

characteristic: description

text: UTAH/MORMON

characteristic: ethnicity

characteristic: family id

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 1377

text: GM11885 male unaffected Ceph/utah pedigree 1377 sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 47 YR

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: ND21940 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son

text: UTAH/MORMON

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 1377

text: GM11886 male unaffected Ceph/utah pedigree 1377 sample


text: Coriell

text: live

text: Generic

text: 40 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: ND21941 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son

text: UTAH/MORMON

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 1377

characteristic: tag

text: GM11887 male unaffected Ceph/utah pedigree 1377 sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Tourette syndrome

text: 9 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND21942 male affected Tourette syndrome sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son

characteristic: description

text: UTAH/MORMON

characteristic: ethnicity

characteristic: family id

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 1377

text: GM11889 male unaffected Ceph/utah pedigree 1377 sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

text: Tourette syndrome

text: 8 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Tourette syndrome

text: ND21943 male affected Tourette syndrome sample


text: Coriell

characteristic: INSDC secondary accession

text: live

text: Generic

characteristic: NCBI submission package

characteristic: SRA accession

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Paternal Grandfather

text: UTAH/MORMON

text: paternal grandfather

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 1377

text: International hapmap project - ceph (plate ii) utah residents with ancestry from northern and western europe

text: GM11891 male unaffected Ceph/utah pedigree 1377 sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: 33 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

characteristic: tag

text: ND21944 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: Coriell plate

characteristic: DNA id

characteristic: External Id

characteristic: HapMap sample ID

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Utah Residents (CEPH) with Northern and Western European ancestry

characteristic: Population Description

text: EUR

characteristic: Super Population Code

text: European

characteristic: Super Population Description

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

characteristic: culture collection

text: Paternal Grandmother

characteristic: description

text: UTAH/MORMON

text: paternal grandmother

text: Homo sapiens

text: CEU

characteristic: population

text: Caucasian

text: female

text: Coriell GM11892

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Tourette syndrome

text: 12 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Tourette syndrome

text: ND21945 male affected Tourette syndrome sample


characteristic: Coriell plate

characteristic: DNA id

characteristic: External Id

characteristic: HapMap sample ID

text: Coriell

characteristic: INSDC secondary accession

text: live

characteristic: INSDC status

text: Generic

characteristic: Population Description

characteristic: SRA accession

text: EUR

characteristic: Super Population Code

text: European

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Maternal Grandfather

text: UTAH/MORMON

characteristic: ethnicity

text: maternal grandfather

text: Homo sapiens

text: CEU

text: Caucasian

text: male

characteristic: sex

text: International hapmap project - ceph utah residents with ancestry from northern and western europe

characteristic: tag

text: Coriell GM11893


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 43 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Tourette syndrome

text: ND21946 female unaffected Tourette syndrome sample

characteristic: title


characteristic: Coriell plate

characteristic: DNA id

characteristic: External Id

characteristic: HapMap sample ID

text: Coriell

characteristic: INSDC secondary accession

text: live

text: Generic

text: EUR

text: European

characteristic: Super Population Description

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: culture collection

text: Maternal Grandmother

characteristic: description

text: UTAH/MORMON

characteristic: family id

text: maternal grandmother

text: Homo sapiens

characteristic: organism

text: CEU

characteristic: population

text: Caucasian

characteristic: race

text: female

text: Coriell GM11894


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Tourette syndrome

text: 40 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Tourette syndrome

characteristic: tag

text: ND21947 male affected Tourette syndrome sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Son

text: UTAH/MORMON

characteristic: ethnicity

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 1377

text: GM11895 male unaffected Ceph/utah pedigree 1377 sample

characteristic: title


text: Coriell

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 68 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Neurodegenerative overlap syndrome

text: Amyotrophic lateral sclerosis 1

text: ND21951 male affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 5 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;2 affected sibs (GM11899 and GM12127)

characteristic: description

text: brother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Cirrhosis, familial, with pulmonary hypertension included

text: Cirrhosis familial

text: GM11898 male unaffected Cirrhosis familial sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 57 YR

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND21952 female unaffected Population/convenience control sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: Cirrhosis familial

text: 3 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;this subject was found to be negative for mutations in the ABCB4 gene by direct sequencing of the gene exons;affected sister is GM12127

text: sister

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

characteristic: tag

text: Cirrhosis familial

text: GM11899 female affected Cirrhosis familial sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Epilepsy

text: 36 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: sibling

text: Homo sapiens

text: More than one race

text: Female

text: Epilepsy

text: ND21961 female affected Epilepsy sample


text: Coriell

text: live

text: Generic

text: Spondyloperipheral dysplasia

text: 10 WK

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Foreskin fibroblast culture;parents are GM12220 & 12221 Lymphoid;short limbs;large head;small chest;hypoplastic lungs;inverted nose;platyspondylia;expired at age 4 mo

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Spondyloperipheral dysplasia

text: GM11902 male affected Spondyloperipheral dysplasia sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Epilepsy

text: 47 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Epilepsy

text: ND21962 female affected Epilepsy sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: MTTK

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Presented at 13 years of age with mild action myoclonus;mitochondrial myopathy;and mild proximal muscle weakness;patient has an A to G transition mutation at nucleotide pair 8344 of mtDNA which results in a mutant tRNA-Lys/wt

characteristic: description

text: MTTK

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: MERFF

text: MTTK

text: Transfer rna, mitochondrial, lysine

text: Myoclonus epilepsy associated with ragged-red fibers

text: GM11906 female affected MTTK sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 41 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND21967 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: MTTK

text: 22 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Onset of spont myoclonic jerking in midteens;progressed over 10 years to debilitating myoclonus;neurosensory hearing loss;dementia;hypoventilation;and mild cardiomyopathy;mutant tRNA-Lys;A>G transition at mtDNA nucleotide pair 8344/wt

text: MTTK

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: MERFF

characteristic: tag

text: MTTK

text: Transfer rna, mitochondrial, lysine

text: GM11907 female affected MTTK sample


text: Coriell

text: live

text: Generic

text: 42 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND21968 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son. This cell line may be monoclonal as indicated by the very high proportion of IgL kappa (96%) compared to total lgL expression determined by cDNA microarray (see PMID: 14583597).

text: UTAH/MORMON

characteristic: ethnicity

text: son

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Ceph/utah pedigree 1423

text: GM11909 male unaffected Ceph/utah pedigree 1423 sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Tourette syndrome

text: 6 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Tourette syndrome

text: ND21969 male affected Tourette syndrome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Daughter. This cell line may be monoclonal as indicated by the very high proportion of IgL kappa (99.5%) compared to total lgL expression determined by cDNA microarray (see PMID: 14583597).

characteristic: description

text: UTAH/MORMON

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/utah pedigree 1423

text: GM11910 female unaffected Ceph/utah pedigree 1423 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Progressive supranuclear palsy

text: 63 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Progressive supranuclear palsy

text: ND21970 female affected Progressive supranuclear palsy sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Daughter

text: UTAH/MORMON

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Ceph/utah pedigree 1423

characteristic: tag

text: GM11911 female unaffected Ceph/utah pedigree 1423 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 65 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: ND21971 male unaffected Population/convenience control sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son

text: UTAH/MORMON

characteristic: ethnicity

text: son

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Ceph/utah pedigree 1423

text: GM11912 male unaffected Ceph/utah pedigree 1423 sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 66 YR

text: B-Lymphocyte

text: NINDS Repository

text: cousin-in-law

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Population/convenience control

text: ND21972 female unaffected Population/convenience control sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son

characteristic: description

text: UTAH/MORMON

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 1423

text: GM11913 male unaffected Ceph/utah pedigree 1423 sample


text: Coriell

text: live

text: Generic

text: 82 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: ND21973 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Daughter

text: UTAH/MORMON

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/utah pedigree 1423

characteristic: tag

text: GM11914 female unaffected Ceph/utah pedigree 1423 sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 45 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: ND21974 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Daughter. This cell line may be monoclonal as indicated by the very high proportion of IgL kappa (99%) compared to total lgL expression determined by cDNA microarray (see PMID: 14583597).

text: UTAH/MORMON

characteristic: ethnicity

text: daughter

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Ceph/utah pedigree 1423

text: GM11915 female unaffected Ceph/utah pedigree 1423 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 52 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Unrelated condition upon exam

text: ND21975 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Son

characteristic: description

text: UTAH/MORMON

text: son

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Ceph/utah pedigree 1423

text: GM11916 male unaffected Ceph/utah pedigree 1423 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 46 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: both Black and White are endorsed

text: mother

text: Homo sapiens

text: More than one race

text: Female

text: ND21980 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

characteristic: INSDC secondary accession

text: live

text: Generic

characteristic: SRA accession

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Paternal Grandfather. This cell line many be polyclonal as indicated by the proportion of IgL kappa (65%) compared to total IgL expression determined by cDNA microarray (see PMID: 14583597). This proportion is within the range observed for peripheral blood lymphocytes (60-70%) and is similar to that (60%) seen in polyclonal B-cells (see PMID: 404386).

text: UTAH/MORMON

text: paternal grandfather

text: Homo sapiens

text: Caucasian

text: Male

text: International hapmap project - ceph utah residents with ancestry from northern and western europe

characteristic: tag

text: Ceph/utah pedigree 1423

text: International hapmap project - ceph (plate ii) utah residents with ancestry from northern and western europe

text: GM11917 male unaffected Ceph/utah pedigree 1423 sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Tourette syndrome

text: 18 YR

text: B-Lymphocyte

text: NINDS Repository

text: both Black and White are endorsed

characteristic: ethnicity

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: More than one race

text: Female

text: Tourette syndrome

text: ND21981 female affected Tourette syndrome sample

characteristic: title


characteristic: Coriell plate

characteristic: External Id

characteristic: HapMap sample ID

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Utah Residents (CEPH) with Northern and Western European ancestry

characteristic: Population Description

text: EUR

characteristic: Super Population Code

text: European

characteristic: Super Population Description

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: culture collection

text: Paternal Grandmother

characteristic: description

text: UTAH/MORMON

text: paternal grandmother

text: Homo sapiens

text: CEU

characteristic: population

text: Caucasian

characteristic: race

text: female

text: Coriell GM11918


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Tourette syndrome

text: 9 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Tourette syndrome

characteristic: tag

text: ND21988 male affected Tourette syndrome sample


characteristic: Coriell plate

characteristic: DNA id

characteristic: External Id

characteristic: HapMap sample ID

text: Coriell

characteristic: INSDC secondary accession

text: live

text: Generic

characteristic: NCBI submission package

characteristic: Population Description

characteristic: SRA accession

text: EUR

characteristic: Super Population Code

text: European

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Maternal Grandfather

text: UTAH/MORMON

characteristic: ethnicity

characteristic: family id

text: maternal grandfather

text: Homo sapiens

characteristic: organism

text: CEU

text: Caucasian

text: male

text: Coriell GM11919

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 42 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: ND21989 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: Coriell plate

characteristic: DNA id

characteristic: External Id

characteristic: HapMap sample ID

text: Coriell

characteristic: INSDC secondary accession

text: live

text: Generic

characteristic: NCBI submission package

text: EUR

text: European

characteristic: Super Population Description

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

characteristic: culture collection

text: Maternal Grandmother

characteristic: description

text: UTAH/MORMON

text: maternal grandmother

text: Homo sapiens

text: CEU

characteristic: population

text: Caucasian

text: female

characteristic: sex

characteristic: tag

text: Coriell GM11920


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 41 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND21990 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Daughter

text: UTAH/MORMON

characteristic: ethnicity

text: daughter

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Ceph/utah pedigree 1423

text: GM11921 female unaffected Ceph/utah pedigree 1423 sample


text: Coriell

text: live

text: Generic

text: 7 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: brother

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

characteristic: tag

text: ND21991 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son. This cell line may be monoclonal as indicated by the very high proportion of IgL kappa (99%) compared to total lgL expression determined by cDNA microarray (see PMID: 14583597).

characteristic: description

text: UTAH/MORMON

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 1424

text: GM11922 male unaffected Ceph/utah pedigree 1424 sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 43 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND21998 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son

text: UTAH/MORMON

text: son

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Ceph/utah pedigree 1424

text: GM11923 male unaffected Ceph/utah pedigree 1424 sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Tourette syndrome

text: 8 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Tourette syndrome

text: ND21999 female affected Tourette syndrome sample


text: Coriell

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Daughter

text: UTAH/MORMON

characteristic: ethnicity

text: daughter

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Ceph/utah pedigree 1424

text: GM11924 female unaffected Ceph/utah pedigree 1424 sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Tourette syndrome

text: 35 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Tourette syndrome

characteristic: tag

text: ND22000 female affected Tourette syndrome sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son

characteristic: description

text: UTAH/MORMON

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 1424

text: GM11925 male unaffected Ceph/utah pedigree 1424 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 16 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Tourette syndrome

text: ND22001 female affected Tourette syndrome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Daughter

text: UTAH/MORMON

text: daughter

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Ceph/utah pedigree 1424

text: GM11926 female unaffected Ceph/utah pedigree 1424 sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 12 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: ND22002 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son

text: UTAH/MORMON

characteristic: ethnicity

text: son

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Ceph/utah pedigree 1424

text: GM11927 male unaffected Ceph/utah pedigree 1424 sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Tourette syndrome

text: 7 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

characteristic: tag

text: ND22018 male affected Tourette syndrome sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son

characteristic: description

text: UTAH/MORMON

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 1424

text: GM11928 male unaffected Ceph/utah pedigree 1424 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 60 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND22023 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Son. This cell line may be monoclonal as indicated by the very high proportion of IgL lambda (99%) compared to total lgL expression determined by cDNA microarray (see PMID: 14583597).

text: UTAH/MORMON

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 1424

text: GM11929 male unaffected Ceph/utah pedigree 1424 sample

characteristic: title


text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 22 YR

text: B-Lymphocyte

text: NINDS Repository

text: Ashkanazy Jewish Poland;Russia

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Tourette syndrome

text: ND22024 male affected Tourette syndrome sample


characteristic: Coriell plate

characteristic: DNA id

characteristic: HapMap sample ID

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

characteristic: INSDC secondary accession

text: live

text: Generic

text: Utah Residents (CEPH) with Northern and Western European ancestry

characteristic: Population Description

characteristic: SRA accession

text: EUR

characteristic: Super Population Code

text: European

characteristic: Super Population Description

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: culture collection

text: Paternal Grandfather

text: UTAH/MORMON

text: paternal grandfather

text: Homo sapiens

text: CEU

characteristic: population

text: Caucasian

text: male

text: Ceph/utah pedigree 1424

text: Coriell GM11930


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 66 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

characteristic: family id

text: unaffected spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Population/convenience control

characteristic: tag

text: ND22027 male unaffected Population/convenience control sample

characteristic: title


characteristic: Coriell plate

characteristic: DNA id

characteristic: HapMap sample ID

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

characteristic: INSDC secondary accession

text: live

text: Generic

characteristic: Population Description

characteristic: SRA accession

text: EUR

text: European

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Paternal Grandmother

characteristic: description

text: UTAH/MORMON

characteristic: ethnicity

text: paternal grandmother

text: Homo sapiens

text: CEU

text: Caucasian

characteristic: race

text: female

characteristic: sex

text: Ceph/utah pedigree 1424

text: Coriell GM11931


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Epilepsy

text: 36 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

characteristic: family id

text: proband

text: Homo sapiens

text: More than one race

text: Male

text: Epilepsy

text: ND22030 male affected Epilepsy sample


characteristic: DNA id

characteristic: HapMap sample ID

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: EUR

characteristic: Super Population Code

text: European

characteristic: Super Population Description

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: culture collection

text: Maternal Grandfather. This cell line may be monoclonal as indicated by the very high proportion of IgL kappa (99%) compared to total lgL expression determined by cDNA microarray (see PMID: 14583597).

text: UTAH/MORMON

text: maternal grandfather

text: Homo sapiens

characteristic: organism

text: CEU

characteristic: population

text: Caucasian

text: male

text: Ceph/utah pedigree 1424

characteristic: tag

text: Coriell GM11932

characteristic: title


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Epilepsy

text: 52 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: sibling

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Epilepsy

text: ND22032 male affected Epilepsy sample


characteristic: DNA id

characteristic: HapMap sample ID

text: Coriell

characteristic: INSDC center name

characteristic: INSDC secondary accession

text: live

text: Generic

characteristic: Population Description

characteristic: SRA accession

text: EUR

text: European

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Maternal Grandmother

characteristic: description

text: UTAH/MORMON

characteristic: ethnicity

characteristic: family id

text: maternal grandmother

text: Homo sapiens

text: CEU

text: Caucasian

text: female

text: Ceph/utah pedigree 1424

text: Coriell GM11933


characteristic: External Id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 40 YR

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

characteristic: tag

text: ND22048 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: Myasthenia gravis

text: 72 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Onset of muscle weakness at age 71;mild fatigue on upward gaze followed by brief ptosis of both eyelids;neck and arm weakness;asymptomatic on Mestinon therapy;elevated acetylcholine antibody titers;has thyroid disease

text: sister

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Myasthenia gravis

text: MG

text: GM11947 female affected Myasthenia gravis sample


text: Coriell

text: live

text: Generic

text: 39 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND22049 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 1 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: 18q- syndrome;mental retardation;abnormal hands;hypotonia;abnormal genital development;midface hypoplasia;carp-mouth;first-arch abnormalities;abnormal feet;visceral anomalies;umbilical hernia;ASD;15 Mb deletion

characteristic: description

characteristic: karyotype

text: Homo sapiens

text: Black

text: Female

text: Chromosome deletion

text: GM11951 female unaffected Chromosome deletion sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Tourette syndrome

text: 8 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND22050 male affected Tourette syndrome sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 1 MO

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: 18q- syndrome;first-arch abnormalities;abnormal feet;visceral anomalies;single left kidney;vertebral anomalies;15 Mb deletion

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Chromosome deletion

characteristic: tag

text: GM11953 female unaffected Chromosome deletion sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 28 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: ND22054 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 5 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: 18q- syndrome;mental retardation;abnormal hands;hypotonia;midface hypoplasia;carp-mouth;first-arch abnormalities;abnormal feet;ocular abnormalities;visceral anomalies;VSD;20 Mb deletion

text: 46;XX;del(18)(pter>q21.3:);46;XX;del(18)(pter>q21.3::q23>qter).ish del(18)(D18S522+;D18S1390+);46;XX;del(18)(pter>q21.3::q23>qter).ish del(18)(D18S522+;D18S1390+;VIJyRM2050+;D18Z1+)

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Chromosome deletion

text: GM11957 female unaffected Chromosome deletion sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 82 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Parkinson disease

text: ND22056 female affected Parkinson disease sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: 19 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: 18q- syndrome;mental retardation;abnormal hands;midface hypoplasia;carpmouth;first-arch abnormalities;abnormal feet;13 Mb deletion

characteristic: description

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Chromosome deletion

text: GM11958 male unaffected Chromosome deletion sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 80 YR

text: B-Lymphocyte

text: NINDS Repository

text: Lebanese

characteristic: ethnicity

characteristic: family id

text: spouse

text: Homo sapiens

text: Other

text: Male

text: Population/convenience control

text: ND22057 male unaffected Population/convenience control sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 3 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: 18q- syndrome;mental retardation;abnormal genital development;midface hypoplasia;carp-mouth;ocular abnormalities;28 Mb deletion

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Chromosome deletion

characteristic: tag

text: GM11959 male unaffected Chromosome deletion sample


text: Coriell

text: live

text: Generic

text: 43 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: ND22061 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 33 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Phenotypically normal;wife has had 3 spontaneous abortions

characteristic: description

text: 46;XY;t(9;18)(9pter>9q32::18q21.1> 18qter;18pter>18q21.1::9q32>9qter)

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Translocated chromosome

text: GM11960 male unaffected Translocated chromosome sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 39 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND22062 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 19 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: 18q- syndrome;mental retardation;abnormal hands;hypotonia;abnormal genital development;midface hypoplasia;carp-mouth;first-arch abnormalities;abnormal feet;ocular abnormalities;22 Mb deletion;20% of cells are 46;XY

text: 46;XY;del(18)(pter>q21.3:) 40 /46;XY 10

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Chromosome deletion

text: GM11963 male unaffected Chromosome deletion sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Tourette syndrome

text: 10 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND22063 male affected Tourette syndrome sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 24 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: 18q- syndrome;ment retard;midface hypoplasia;carp-mouth;first-arch abnormalities;abnormal feet;visceral anomalies;umbilical hernia;cleft palate/uvula;vertebral anomalies;diabetes mellitus;pulmonary valve insuff;19 Mb del

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Chromosome deletion

characteristic: tag

text: GM11964 male unaffected Chromosome deletion sample


text: Coriell

text: live

text: Generic

text: Progressive supranuclear palsy

text: 56 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Progressive supranuclear palsy

text: ND22071 male affected Progressive supranuclear palsy sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 6 MO

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: 18q- syndrome;mental retardation;hypotonia;midface hypoplasia;carp-mouth;first-arch abnormalities;cleft palate/ uvula;sacral dimple;12 Mb deletion

characteristic: description

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Chromosome deletion

text: GM11965 male unaffected Chromosome deletion sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 57 YR

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: ND22072 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 3 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: 18q- syndrome;mental retardation;abnormal hands;hypotonia;midface hypoplasia;carp-mouth;first-arch abnormalities;abnormal feet;visceral anomalies;thickened heart valve;cleft palate/uvula;22 Mb deletion

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Chromosome deletion

text: GM11967 female unaffected Chromosome deletion sample


text: Coriell

text: live

text: Generic

text: 38 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Mexican

characteristic: ethnicity

characteristic: family id

text: wife

text: Homo sapiens

characteristic: organism

text: Other

text: Female

text: Control

text: Population/convenience control

text: ND22077 female unaffected Control sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: Chromosome deletion

text: 4 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Mexican American;esotropia;skull defects (wormian bones and biparietal foramina);borderline hypothyroidism;brachycephaly;epicanthus tarsalis;telecanthus;mild brachydactyly;same subject as GM22622

text: MEXICAN-AMERICAN

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Potocki-shaffer syndrome

characteristic: tag

text: Chromosome deletion

text: GM11970 female affected Chromosome deletion sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Progressive supranuclear palsy

text: 71 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Progressive supranuclear palsy

text: ND22082 female affected Progressive supranuclear palsy sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 13 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically asymptomatic;carrier level of uroporphyrinogen decarboxylase activity in RBC;son of GM08668

characteristic: description

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Porphyria cutanea tarda

text: GM11971 male unaffected Porphyria cutanea tarda sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 73 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: ND22083 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 11 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically asymptomatic;carrier level of uroporphyrinogen decarboxylase activity in RBC;daughter of GM08668

characteristic: family id

text: daughter

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Porphyria cutanea tarda

text: GM11972 female unaffected Porphyria cutanea tarda sample


text: Coriell

text: live

text: Generic

text: 50 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND22089 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 7 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: son

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Porphyria cutanea tarda

characteristic: tag

text: GM11973 male unaffected Porphyria cutanea tarda sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 52 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: ND22090 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Daughter

text: UTAH/MORMON

characteristic: ethnicity

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/utah pedigree 1362

text: GM11982 female unaffected Ceph/utah pedigree 1362 sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 34 YR

text: B-Lymphocyte

text: NINDS Repository

text: Middle Eastern

text: parent

text: Homo sapiens

text: Caucasian

text: Male

text: ND22097 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Daughter

characteristic: description

text: UTAH/MORMON

characteristic: family id

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/utah pedigree 1362

text: GM11983 female unaffected Ceph/utah pedigree 1362 sample


text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 31 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Tourette syndrome

text: ND22101 male affected Tourette syndrome sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son

text: UTAH/MORMON

text: son

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Ceph/utah pedigree 1362

characteristic: tag

text: GM11984 male unaffected Ceph/utah pedigree 1362 sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 61 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: wife

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Control

text: Population/convenience control

text: ND22106 female unaffected Control sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Daughter

text: UTAH/MORMON

characteristic: ethnicity

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/utah pedigree 1362

text: GM11985 female unaffected Ceph/utah pedigree 1362 sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 52 YR

text: B-Lymphocyte

text: NINDS Repository

text: Ashkenazi Jewish

characteristic: family id

text: mother

text: Homo sapiens

text: Other

text: Female

text: ND22112 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Daughter

characteristic: description

text: UTAH/MORMON

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/utah pedigree 1362

text: GM11986 female unaffected Ceph/utah pedigree 1362 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 20 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Ashkenazi Jewish

text: proband

text: Homo sapiens

characteristic: organism

text: Other

text: Female

text: Tourette syndrome

text: ND22113 female affected Tourette syndrome sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son

text: UTAH/MORMON

text: son

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Ceph/utah pedigree 1362

characteristic: tag

text: GM11987 male unaffected Ceph/utah pedigree 1362 sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 41 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: ND22117 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Daughter

text: UTAH/MORMON

characteristic: ethnicity

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/utah pedigree 1362

text: GM11988 female unaffected Ceph/utah pedigree 1362 sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Tourette syndrome

text: 46 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: family id

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND22118 male affected Tourette syndrome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Daughter

characteristic: description

text: UTAH/MORMON

text: daughter

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Ceph/utah pedigree 1362

text: GM11989 female unaffected Ceph/utah pedigree 1362 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Tourette syndrome

text: 39 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Tourette syndrome

text: ND22119 female affected Tourette syndrome sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son

text: UTAH/MORMON

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 1362

characteristic: tag

text: GM11990 male unaffected Ceph/utah pedigree 1362 sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Tourette syndrome

text: 12 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Tourette syndrome

text: ND22120 male affected Tourette syndrome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Daughter

text: UTAH/MORMON

characteristic: ethnicity

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/utah pedigree 1362

text: GM11991 female unaffected Ceph/utah pedigree 1362 sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 58 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: family id

text: sister-in-law

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND22121 female unaffected Population/convenience control sample


characteristic: Coriell plate

characteristic: HapMap sample ID

text: Coriell

characteristic: INSDC center name

characteristic: INSDC secondary accession

text: live

text: Generic

text: Utah Residents (CEPH) with Northern and Western European ancestry

characteristic: Population Description

characteristic: SRA accession

text: EUR

characteristic: Super Population Code

text: European

characteristic: Super Population Description

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: culture collection

text: Paternal Grandfather

characteristic: description

text: UTAH/MORMON

text: paternal grandfather

text: Homo sapiens

characteristic: organism

text: CEU

characteristic: population

text: Caucasian

text: male

text: International hapmap project - ceph (plate i) utah residents with ancestry from northern and western europe

text: Coriell GM11992


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 60 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Population/convenience control

characteristic: tag

text: ND22124 female unaffected Population/convenience control sample


characteristic: Coriell plate

characteristic: DNA id

characteristic: External Id

characteristic: HapMap sample ID

text: Coriell

characteristic: INSDC center name

characteristic: INSDC secondary accession

text: live

text: Generic

characteristic: Population Description

characteristic: SRA accession

text: EUR

characteristic: Super Population Code

text: European

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Paternal Grandmother

text: UTAH/MORMON

characteristic: ethnicity

characteristic: family id

text: paternal grandmother

text: Homo sapiens

text: CEU

text: Caucasian

text: female

text: Cytochrome p450, subfamily iic, polypeptide 19

text: International hapmap project - ceph utah residents with ancestry from northern and western europe

text: Snp500 panel

text: Ceph/utah pedigree 1362

text: Coriell GM11993

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Tourette syndrome

text: 10 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Tourette syndrome

text: ND22137 male affected Tourette syndrome sample


characteristic: Coriell plate

characteristic: DNA id

characteristic: External Id

characteristic: HapMap sample ID

text: Coriell

characteristic: INSDC center name

characteristic: INSDC secondary accession

text: live

text: Generic

text: EUR

text: European

characteristic: Super Population Description

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: culture collection

text: Maternal Grandfather

characteristic: description

text: UTAH/MORMON

text: maternal grandfather

text: Homo sapiens

text: CEU

characteristic: population

text: Caucasian

characteristic: race

text: male

characteristic: sex

characteristic: tag

text: Coriell GM11994


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Progressive supranuclear palsy

text: 80 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Japanese

characteristic: ethnicity

characteristic: family id

text: proband

text: Homo sapiens

text: Asian

text: Male

text: Progressive supranuclear palsy

text: ND22149 male affected Progressive supranuclear palsy sample

characteristic: title


characteristic: Coriell plate

characteristic: DNA id

characteristic: External Id

characteristic: HapMap sample ID

text: Coriell

characteristic: INSDC center name

characteristic: INSDC secondary accession

text: live

text: Generic

characteristic: Population Description

characteristic: SRA accession

text: EUR

characteristic: Super Population Code

text: European

characteristic: Super Population Description

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Maternal Grandmother;donor subject is heterozygous for an A>C change at nucleotide 1061 (1061A>C) in exon 7 of the CYP2C9 gene (CYP2C9*3) which results in a substitution of leucine for isoleucine at codon 359 Ile359Leu (I359L)

text: UTAH/MORMON

text: maternal grandmother

text: Homo sapiens

characteristic: organism

text: CEU

text: Caucasian

text: female

text: Cytochrome p450, subfamily iic, polypeptide 9

text: Ceph/utah pedigree 1362

text: Coriell GM11995


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 74 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Japanese

text: spouse

text: Homo sapiens

text: Asian

characteristic: race

text: Female

characteristic: sex

characteristic: tag

text: ND22150 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son

characteristic: description

text: UTAH/MORMON

characteristic: ethnicity

characteristic: family id

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 1362

text: GM11996 male unaffected Ceph/utah pedigree 1362 sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 44 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: ND22154 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

characteristic: INSDC secondary accession

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

characteristic: SRA accession

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Daughter

text: UTAH/MORMON

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/utah pedigree 1420

text: GM11997 female unaffected Ceph/utah pedigree 1420 sample


text: Coriell

text: live

text: Generic

text: 41 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

characteristic: tag

text: ND22155 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Daughter

characteristic: description

text: UTAH/MORMON

characteristic: ethnicity

characteristic: family id

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/utah pedigree 1420

text: GM11998 female unaffected Ceph/utah pedigree 1420 sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Tourette syndrome

text: 12 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Tourette syndrome

text: ND22156 male affected Tourette syndrome sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Daughter

text: UTAH/MORMON

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/utah pedigree 1420

text: GM11999 female unaffected Ceph/utah pedigree 1420 sample


text: Coriell

text: live

text: Generic

text: 29 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: ND22157 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Daughter

text: UTAH/MORMON

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/utah pedigree 1420

characteristic: tag

text: GM12000 female unaffected Ceph/utah pedigree 1420 sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Tourette syndrome

text: 8 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND22158 male affected Tourette syndrome sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Daughter

characteristic: description

text: UTAH/MORMON

characteristic: ethnicity

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/utah pedigree 1420

text: GM12001 female unaffected Ceph/utah pedigree 1420 sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 46 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND22159 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Daughter. This cell line may be monoclonal as indicated by the very high proportion of IgL kappa (99%) compared to total lgL expression determined by cDNA microarray (see PMID: 14583597).

text: UTAH/MORMON

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/utah pedigree 1420

text: GM12002 female unaffected Ceph/utah pedigree 1420 sample


text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 17 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Tourette syndrome

text: ND22160 male affected Tourette syndrome sample


characteristic: Coriell plate

characteristic: DNA id

characteristic: External Id

characteristic: HapMap sample ID

text: Coriell

characteristic: INSDC center name

characteristic: INSDC secondary accession

text: live

text: Generic

text: Utah Residents (CEPH) with Northern and Western European ancestry

characteristic: Population Description

characteristic: SRA accession

text: EUR

characteristic: Super Population Code

text: European

characteristic: Super Population Description

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: culture collection

text: Paternal Grandfather. This cell line may be monoclonal as indicated by the very high proportion of IgL kappa (99%) compared to total lgL expression determined by cDNA microarray (see PMID: 14583597)

text: UTAH/MORMON

text: paternal grandfather

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: CEU

characteristic: population

text: Caucasian

text: male

text: International hapmap project - ceph (plate i) utah residents with ancestry from northern and western europe

characteristic: tag

text: Coriell GM12003


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Tourette syndrome

text: 8 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

characteristic: family id

text: sister

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Tourette syndrome

text: ND22161 female affected Tourette syndrome sample

characteristic: title


characteristic: Coriell plate

characteristic: DNA id

characteristic: External Id

characteristic: HapMap sample ID

text: Coriell

characteristic: INSDC center name

characteristic: INSDC secondary accession

text: live

text: Generic

characteristic: Population Description

characteristic: SRA accession

text: EUR

characteristic: Super Population Code

text: European

characteristic: Super Population Description

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: culture collection

text: Paternal Grandmother. This cell line many be polyclonal as indicated by the proportion of IgL kappa (63%) compared to total IgL expression determined by cDNA microarray (see PMID: 14583597). This proportion is within the range observed for peripheral blood lymphocytes (60-70%) and is similar to that (60%) seen in polyclonal B-cells (see PMID: 404386)

characteristic: description

text: UTAH/MORMON

characteristic: ethnicity

text: paternal grandmother

text: Homo sapiens

text: CEU

text: Caucasian

text: female

characteristic: sex

text: Coriell GM12004


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Epilepsy

text: 4 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: FAMILY HISTORY: ALZHEIMERS

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Epilepsy

characteristic: tag

text: ND22176 female affected Epilepsy sample


characteristic: Coriell plate

characteristic: DNA id

characteristic: External Id

characteristic: HapMap sample ID

text: Coriell

characteristic: INSDC center name

characteristic: INSDC secondary accession

text: live

text: Generic

characteristic: Population Description

characteristic: SRA accession

text: EUR

characteristic: Super Population Code

text: European

characteristic: Super Population Description

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Maternal Grandfather. Same as 1477-12. This cell line may be monoclonal as indicated by the very high proportion of IgL lambda (99.7%) compared to total lgL expression determined by cDNA microarray (see PMID: 14583597);donor subject is heterozygous for an A>C change at nucleotide 1061 (1061A>C) in exon 7 of the CYP2C9 gene (CYP2C9*3) which results in a substitution of leucine for isoleucine at codon 359 Ile359Leu (I359L)

text: UTAH/MORMON

text: maternal grandfather

text: Homo sapiens

text: CEU

characteristic: population

text: Caucasian

characteristic: race

text: male

text: Coriell GM12005

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 32 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: ND22177 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: Coriell plate

characteristic: DNA id

characteristic: External Id

characteristic: HapMap sample ID

text: Coriell

characteristic: INSDC center name

characteristic: INSDC secondary accession

text: live

text: Generic

characteristic: Population Description

text: EUR

text: European

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: culture collection

text: Maternal Grandmother Same as 1477-13

characteristic: description

text: UTAH/MORMON

characteristic: ethnicity

characteristic: family id

text: maternal grandmother

text: Homo sapiens

characteristic: organism

text: CEU

text: Caucasian

text: female

characteristic: tag

text: Coriell GM12006


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 33 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: ND22178 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Son. This cell line may be monoclonal as indicated by the very high proportion of IgL lambda (98%) compared to total lgL expression determined by cDNA microarray (see PMID: 14583597).

text: UTAH/MORMON

text: son

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Ceph/utah pedigree 1420

text: GM12007 male unaffected Ceph/utah pedigree 1420 sample


text: Coriell

text: live

text: Generic

text: 52 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: ND22183 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Lesch-nyhan syndrome

text: 9 MO

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Line RJK2163;17% of control HPRT activity in erythrocyte hemolysate;HPRT1 gene shows a single base mutation;G>A;in exon 2 resulting in substitution of Lys for Arg in codon 44 {Arg44Lys (R44K)}

characteristic: description

text: ITALIAN

characteristic: ethnicity

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: LNS

characteristic: tag

text: Hypoxanthine guanine phosphoribosyltransferase 1

text: Lesch-nyhan syndrome

text: HPRT

text: GM12010 male affected Lesch-nyhan syndrome sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 53 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND22184 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Lesch-nyhan syndrome

text: 17 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Line RJK2256;6% of control HPRT activity in RBC;self mutilation;HPRT1 gene shows a single base mutation;A>G;in exon 9 resulting in substitution of Arg for His in codon 203 {His203Arg (H203R)}

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: LNS

text: Lesch-nyhan syndrome

text: HPRT

text: GM12011 male affected Lesch-nyhan syndrome sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Tourette syndrome

text: 15 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

characteristic: sex

text: Tourette syndrome

text: ND22185 male affected Tourette syndrome sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: Lesch-nyhan syndrome

text: 4 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Line RJK2397;deficient HPRT activity in RBC;HPRT1 gene shows a single base mutation: G>A;in exon 2 resulting in substitution of Glu for Gly in codon 39 Gly39Glu (G39E)

characteristic: description

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Black

text: Male

text: LNS

characteristic: tag

text: Lesch-nyhan syndrome

text: HPRT

text: GM12012 male affected Lesch-nyhan syndrome sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 60 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Male

text: Unrelated condition upon exam

text: ND22197 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 19 FW

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: karyotype

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: GM12013 male unaffected Aneuploid chromosome number - non-trisomic sample