characteristic: Coriell plate

characteristic: HapMap sample ID

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

characteristic: Population Description

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: culture collection

text: Mother;donor subject has a single bp (G-to-A) transition at nucleotide 681 in exon 5 of the CYP2C19 gene (CYP2C19*2) which creates an aberrant splice site. The change altered the reading frame of the mRNA starting with amino acid 215 and produced a premature stop codon 20 amino acids downstream;resulting in a truncated;nonfunctional protein. Because of the aberrant splice site;a 40-bp deletion occurred at the beginning of exon 5 (from bp 643 to bp 682);resulting in deletion of amino acids 215 to 227. The truncated protein had 234 amino acids and would be catalytically inactive because it lacked the heme-binding region.

text: UTAH/MORMON

characteristic: ethnicity

text: mother

text: Homo sapiens

text: CEU

characteristic: population

text: Caucasian

characteristic: race

text: female

characteristic: sex

text: Ceph/utah pedigree 1463

text: Coriell GM12878


status: PUBLIC

characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Epilepsy

tag: attribute

text: 26 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

characteristic: family id

text: sibling

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Epilepsy

characteristic: tag

text: ND23530 female affected Epilepsy sample

characteristic: title


characteristic: DNA id

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: Daughter

characteristic: description

text: UTAH/MORMON

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/utah pedigree 1463

text: GM12879 female unaffected Ceph/utah pedigree 1463 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Epilepsy

text: 18 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Epilepsy

text: ND23531 female affected Epilepsy 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: Daughter

text: UTAH/MORMON

characteristic: ethnicity

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/utah pedigree 1463

text: GM12880 female unaffected Ceph/utah pedigree 1463 sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Epilepsy

text: 32 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy

text: ND23543 male affected Epilepsy sample


text: Coriell

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Daughter

text: UTAH/MORMON

characteristic: family id

text: daughter

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Ceph/utah pedigree 1463

characteristic: tag

text: GM12881 female unaffected Ceph/utah pedigree 1463 sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Tourette syndrome

text: 6 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Ashkenazi Jewish (paternal side)

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Tourette syndrome

text: ND23548 female affected Tourette syndrome sample


characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC secondary accession

text: live

text: Generic

characteristic: SRA accession

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son

characteristic: description

text: UTAH/MORMON

text: son

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Ceph/utah pedigree 1463

text: GM12882 male unaffected Ceph/utah pedigree 1463 sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Tourette syndrome

text: 41 YR

text: B-Lymphocyte

text: NINDS Repository

text: Ashkenazi Jewish

characteristic: ethnicity

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Tourette syndrome

text: ND23549 male affected Tourette syndrome sample


text: Coriell

text: live

text: Generic

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Son

text: UTAH/MORMON

characteristic: family id

text: son

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Ceph/utah pedigree 1463

characteristic: tag

text: GM12883 male unaffected Ceph/utah pedigree 1463 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 40 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND23550 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

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son

characteristic: description

text: UTAH/MORMON

text: son

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Ceph/utah pedigree 1463

text: GM12884 male unaffected Ceph/utah pedigree 1463 sample


text: Coriell

characteristic: INSDC center name

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 1463

text: GM12885 female unaffected Ceph/utah pedigree 1463 sample


text: Coriell

text: live

text: Generic

text: 52 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: ND23551 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son

text: UTAH/MORMON

characteristic: ethnicity

characteristic: family id

text: son

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Ceph/utah pedigree 1463

characteristic: tag

text: GM12886 male unaffected Ceph/utah pedigree 1463 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: Daughter

text: UTAH/MORMON

text: daughter

text: 47;XXX 14 /46;XX 174

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/utah pedigree 1463

text: GM12887 female unaffected Ceph/utah pedigree 1463 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 45 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND23552 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son

characteristic: description

text: UTAH/MORMON

text: son

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Ceph/utah pedigree 1463

text: GM12888 male unaffected Ceph/utah pedigree 1463 sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Tourette syndrome

text: 18 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Tourette syndrome

text: ND23553 male affected Tourette syndrome sample


characteristic: Coriell plate

characteristic: HapMap sample ID

text: Coriell

characteristic: INSDC secondary accession

text: live

text: Generic

characteristic: NCBI submission model

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

characteristic: ethnicity

characteristic: family id

text: paternal grandfather

text: Homo sapiens

characteristic: organism

text: CEU

characteristic: population

text: Caucasian

text: male

text: Ceph/utah pedigree 1463

characteristic: tag

text: Coriell GM12889


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: Tourette syndrome

text: 16 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Tourette syndrome

text: ND23554 female affected Tourette syndrome sample

characteristic: title


characteristic: Coriell plate

characteristic: DNA id

characteristic: HapMap sample ID

text: Coriell

characteristic: INSDC secondary accession

text: live

text: Generic

characteristic: NCBI submission model

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: Paternal Grandmother

characteristic: description

text: UTAH/MORMON

text: paternal grandmother

text: Homo sapiens

text: CEU

text: Caucasian

text: female

characteristic: sex

text: Ceph/utah pedigree 1463

text: Coriell GM12890


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: 50 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Ashkenazi Jewish

characteristic: ethnicity

characteristic: family id

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

characteristic: tag

text: ND23555 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: Coriell plate

characteristic: DNA id

characteristic: HapMap sample ID

text: Coriell

characteristic: INSDC secondary accession

text: live

text: Generic

characteristic: NCBI submission model

characteristic: Population Description

characteristic: SRA accession

text: EUR

characteristic: Super Population Code

text: European

characteristic: Super Population Description

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Maternal Grandfather;donor subject is homozygous for a single bp (G-to-A) transition at nucleotide 681 in exon 5 of the CYP2C19 gene (CYP2C19*2) which creates an aberrant splice site. The change altered the reading frame of the mRNA starting with amino acid 215 and produced a premature stop codon 20 amino acids downstream;resulting in a truncated;nonfunctional protein. Because of the aberrant splice site;a 40-bp deletion occurred at the beginning of exon 5 (from bp 643 to bp 682);resulting in deletion of amino acids 215 to 227. The truncated protein had 234 amino acids and would be catalytically inactive because it lacked the heme-binding region.

text: UTAH/MORMON

text: maternal grandfather

text: Homo sapiens

text: CEU

characteristic: population

text: Caucasian

characteristic: race

text: male

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 1463

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

text: Coriell GM12891

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: 48 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Ashkenazi Jewish

characteristic: ethnicity

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: ND23556 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: Coriell plate

characteristic: DNA id

characteristic: HapMap sample ID

text: Coriell

characteristic: INSDC secondary accession

text: live

text: Generic

characteristic: NCBI submission model

characteristic: Population Description

characteristic: SRA accession

text: EUR

characteristic: Super Population Code

text: European

text: B-Lymphocyte

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

text: Caucasian

text: female

characteristic: tag

text: Ceph/utah pedigree 1463

text: Coriell GM12892


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

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

text: son

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Ceph/utah pedigree 1463

text: GM12893 male unaffected Ceph/utah pedigree 1463 sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Tourette syndrome

text: 19 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Ashkenazi Jew

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Tourette syndrome

text: ND23557 male affected Tourette syndrome sample


text: Coriell

text: live

text: Generic

text: 36 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

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

characteristic: description

characteristic: family id

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Cirrhosis, familial, with pulmonary hypertension included

text: Cirrhosis familial

text: GM12894 male unaffected Cirrhosis familial sample


characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 41 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Congenital absence of vas deferens;1 allele has the F508 deletion mutation (PHE508DEL);the other allele tested negative for 16 CF mutations in the ABCC7 (CFTR) gene: deltaF508;G542X;W1282X;G551D;N1303K;R117H;1717-1G>A;3849+10C>T;deltaI507;R347P;R553X;R560T;S549N;621+1G>T;M1101K;3905insT.

text: JEWISH

text: CFTR

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Vas deferens, congenital bilateral aplasia of

characteristic: tag

text: Cystic fibrosis transmembrane conductance regulator

text: CFTR

text: CBAVD

text: GM12895 male unaffected CBAVD sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: 48 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND23558 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: De novo translocation;46;XY;-9;+der(9) t(2;9)(p21;p24);sex reversal;female external genitalia with a uterus;passage 10 at CCR

text: 46;XY;-9;+der(9)t(2;9)(2pter>2p21::9p24> 9qter)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Sex reversal autosomal, 2

text: Translocated chromosome

text: GM12896 female unaffected Sex reversal autosomal, 2 sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 52 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: sex

text: ND23559 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: Father

characteristic: description

text: UTAH/MORMON

characteristic: ethnicity

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 1477

text: GM12897 male unaffected Ceph/utah pedigree 1477 sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: 54 YR

text: B-Lymphocyte

text: NINDS Repository

text: Ashkenazi Jewish

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: ND23562 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Mother

text: UTAH/MORMON

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/utah pedigree 1477

text: GM12898 female unaffected Ceph/utah pedigree 1477 sample


text: Coriell

text: live

text: Generic

text: 52 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: ND23563 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

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

characteristic: sex

text: Ceph/utah pedigree 1477

text: GM12899 female unaffected Ceph/utah pedigree 1477 sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 17 YR

text: B-Lymphocyte

text: NINDS Repository

text: Ashkenazi Jewish (paternal side)

characteristic: ethnicity

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: ND23564 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: B-Lymphocyte

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 1477

text: GM12900 female unaffected Ceph/utah pedigree 1477 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Tourette syndrome

text: 17 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

characteristic: tag

text: ND23565 male 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: family id

text: daughter

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Ceph/utah pedigree 1477

text: GM12901 female unaffected Ceph/utah pedigree 1477 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 56 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND23566 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


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

characteristic: organism

text: Caucasian

text: Male

characteristic: sex

text: Ceph/utah pedigree 1477

text: GM12902 male unaffected Ceph/utah pedigree 1477 sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 54 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND23567 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: 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

text: Ceph/utah pedigree 1477

text: GM12903 male unaffected Ceph/utah pedigree 1477 sample


text: Coriell

text: live

text: Generic

text: Progressive supranuclear palsy

text: 67 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Progressive supranuclear palsy

characteristic: tag

text: ND23569 female affected Progressive supranuclear palsy sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Daughter

text: UTAH/MORMON

characteristic: family id

text: daughter

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Ceph/utah pedigree 1477

text: GM12904 female unaffected Ceph/utah pedigree 1477 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 68 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: husband

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: ND23570 male unaffected Population/convenience control sample

characteristic: title


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

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

characteristic: sex

text: Ceph/utah pedigree 1477

text: GM12905 male unaffected Ceph/utah pedigree 1477 sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 33 YR

text: B-Lymphocyte

text: NINDS Repository

text: Romanian

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND23572 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

characteristic: ethnicity

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/utah pedigree 1477

text: GM12906 female unaffected Ceph/utah pedigree 1477 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 10 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: sister

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND23573 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: Daughter

text: UTAH/MORMON

text: daughter

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Ceph/utah pedigree 1477

text: GM12907 female unaffected Ceph/utah pedigree 1477 sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Tourette syndrome

text: 14 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Ashkenazi Jewish

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Tourette syndrome

text: ND23574 female affected Tourette syndrome sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Paternal Grandfather Same as 1420-11

text: UTAH/MORMON

text: paternal grandfather

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Ceph/utah pedigree 1477

text: GM12908 male unaffected Ceph/utah pedigree 1477 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 49 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Ashkenazi Jewish

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND23575 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Paternal Grandmother Same as 1420-12

characteristic: description

text: UTAH/MORMON

characteristic: ethnicity

text: paternal grandmother

text: Homo sapiens

text: Caucasian

text: Female

text: Snp500 panel

text: Ceph/utah pedigree 1477

text: GM12909 female unaffected Ceph/utah pedigree 1477 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 50 YR

text: B-Lymphocyte

text: NINDS Repository

text: Ashkenazi Jewish

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: tag

text: ND23576 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Maternal Grandmother

text: UTAH/MORMON

text: maternal grandmother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Ceph/utah pedigree 1477

text: GM12910 female unaffected Ceph/utah pedigree 1477 sample

characteristic: title


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Father

text: UTAH/MORMON

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Snp500 panel

text: Ceph/utah pedigree 1582

text: GM12911 male unaffected Ceph/utah pedigree 1582 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 18 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Ashkenazi Jewish

text: sister

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: ND23577 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Mother;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)

text: UTAH/MORMON

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Cytochrome p450, subfamily iic, polypeptide 9

text: Snp500 panel

text: Ceph/utah pedigree 1582

text: GM12912 female unaffected Snp500 panel sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Epilepsy

text: 3 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: sibling

text: Homo sapiens

text: More than one race

text: Female

text: Epilepsy

text: ND23578 female affected Epilepsy sample


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

characteristic: race

text: Female

text: Ceph/utah pedigree 1582

characteristic: tag

text: GM12913 female unaffected Ceph/utah pedigree 1582 sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

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 1582

text: GM12914 male unaffected Ceph/utah pedigree 1582 sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Epilepsy

text: 5 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: More than one race

text: Female

text: Epilepsy

text: ND23579 female affected Epilepsy sample


characteristic: External Id

text: Coriell

text: live

text: Generic

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

characteristic: sex

text: Ceph/utah pedigree 1582

text: GM12915 male unaffected Ceph/utah pedigree 1582 sample


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

text: UTAH/MORMON

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 1582

text: GM12916 male unaffected Ceph/utah pedigree 1582 sample


text: Coriell

text: live

text: Generic

text: 50 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND23581 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual 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

characteristic: race

text: Male

text: Ceph/utah pedigree 1582

characteristic: tag

text: GM12917 male unaffected Ceph/utah pedigree 1582 sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 47 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND23582 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

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

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/utah pedigree 1582

text: GM12918 female unaffected Ceph/utah pedigree 1582 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

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

characteristic: sex

text: Ceph/utah pedigree 1582

text: GM12919 male unaffected Ceph/utah pedigree 1582 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Tourette syndrome

text: 20 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND23583 male affected Tourette syndrome sample


text: Coriell

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

characteristic: race

text: Female

text: Ceph/utah pedigree 1582

text: GM12920 female unaffected Ceph/utah pedigree 1582 sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 44 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: tag

text: ND23584 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

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 1582

text: GM12921 male unaffected Ceph/utah pedigree 1582 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Tourette syndrome

text: 17 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Tourette syndrome

text: ND23585 male affected Tourette syndrome sample


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: Paternal Grandmother

text: UTAH/MORMON

text: paternal grandmother

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/utah pedigree 1582

text: GM12922 female unaffected Ceph/utah pedigree 1582 sample


text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 11 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Ashkenazi Jewish

characteristic: ethnicity

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND23586 male affected Tourette syndrome sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Maternal Grandfather

characteristic: description

text: UTAH/MORMON

text: maternal grandfather

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Ceph/utah pedigree 1582

text: GM12923 male unaffected Ceph/utah pedigree 1582 sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 50 YR

text: B-Lymphocyte

text: NINDS Repository

text: Ashkenazi Jewish

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: ND23587 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: DNA id

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: Maternal Grandmother

text: UTAH/MORMON

text: maternal grandmother

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/utah pedigree 1582

text: GM12924 female unaffected Ceph/utah pedigree 1582 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 49 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Ashkenazi Jewish

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: ND23588 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

characteristic: collection

text: Clinically unaffected;mother of a child with F508/?;donor subject carries a C-to-T substitution at nucleotide 1609 (1609C>T) which converts the gln-493 codon (CAG) to a stop codon (TAG);resulting in a nonsense mutation in exon 10 in the CFTR gene GLN493TER (Q493X)

text: IRISH

characteristic: ethnicity

text: CFTR

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: CF

text: Cystic fibrosis

text: Cystic fibrosis transmembrane conductance regulator

text: CFTR

text: GM12926 female unaffected CF sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 49 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: ND23602 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 35 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Puerto Rican;oculocutaneous albinism;pulmonary fibrosis;prolonged bleeding time;easy bruisability;multiple lentigines;pale yellow hair;defective platelet aggregation;2 affected sibs and a paternal uncle who was an albino;homozygous 16 bp duplication within exon 15 of the HPS gene (codons 491_496)

characteristic: description

text: PUERTO RICAN

text: 16-BP DUP

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: HPS

text: Hermansky-pudlak syndrome

text: Hps1 gene

text: GM12928 female affected HPS1 sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 48 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND23603 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 9 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Interuterine grwth rtrd;low birth wght;lngth;& head circumf;hypertelorism;ptosis;microphthalm;microceph;lowset & dysplast ears;hyperopia;shrt phalanges & metatarsals;ductus Botalli;seizures;sev ment rtrdtn;see GM12721 Lym

text: proband

text: 46;XX;der(8)(6pter>6p22::8p23>8qter).ish der(8)(6p48+;D8S504-;RP11-666I19-;RP11-90O17+;RP11-89M8+;RP11-138J2+);46;XX;der(8)t(6;8)(6pter>6p22::8p23>8qter).ish der(8)(6p48+;D8S504-)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Derivative chromosome

text: GM12929 female unaffected Derivative chromosome sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Tourette syndrome

text: 23 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND23604 male affected Tourette syndrome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 30 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;1 affected child;affected daughter is GM12932 Fibroblast

text: AFRICAN-AMERICAN

characteristic: ethnicity

text: mother

text: Homo sapiens

characteristic: organism

text: Black

characteristic: race

text: Female

text: Glycogen storage disease ii

text: GM12930 female unaffected Glycogen storage disease ii sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Tourette syndrome

text: 56 YR

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

characteristic: tag

text: ND23605 male affected Tourette syndrome sample

characteristic: title


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 36 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: description

text: AFRICAN-AMERICAN

text: father

text: Homo sapiens

text: Black

text: Male

text: Glycogen storage disease ii

text: GM12931 male unaffected Glycogen storage disease ii sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 53 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: ND23606 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Glucosidase acid alpha

text: 9 MO

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Cardiomegaly;muscle biopsy showed vacuolar myopathy with glycogen storage and deficient acid maltase activity;EM ultrastructure studies consistent with diagnosis;parents are GM12930 (mother) and GM12931 (father);expired at age 9 months;donor subject is a compound heterozygote: allele one has missense mutation caused by a T>C transition at nucleotide 1441 (1441T>C) in exon 10 of the GAA gene which results in a substitution of arginine for tryptophan at codon 481 Trp481Arg (W481R);allele two contains a G>A transition at the first nucleotide of intron 8 (IVS8+1G>A) of the GAA gene which results in a splicing defect at the 5 donor site;this rare allele was also found in GM03329 and 18 polymorphisms in the GAA gene were identical in both lines suggesting common ancestry (Raben et al. Hum. Mutat. 13:83-84 (1999)

characteristic: family id

text: proband

text: GAA

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Black

text: Female

characteristic: sex

text: Glucosidase acid alpha

text: GAA

text: Glycogen storage disease ii

text: GM12932 female affected Glucosidase acid alpha sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Tourette syndrome

text: 30 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Tourette syndrome

characteristic: tag

text: ND23607 male affected Tourette syndrome sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 10 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Microcephaly;brachycephaly;hypertelorism;short;broad nose;thin;down-turned mouth;bifid uvula;short neck;agenesis corpus callosum;scrotal hypoplasia;camptodactyly;growth and psychomotor retardation

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Chromosome deletion

text: GM12959 male unaffected Chromosome deletion sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: Tourette syndrome

text: 32 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Ashkenazi Jewish

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND23618 male affected Tourette syndrome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: CF

text: 10 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Meconium ileus;elevated sweat chloride;the donor subject is a compound heterozygote: one allele of the CFTR gene carries a C-to-T substitution at nucleotide 1132 (1132C>T) in exon 7 of the CFTR gene which changes an arginine codon to a tryptophan at position 334 of the putative first transmembrane domain of the protein ARG334TRP (R334W);the mutation in the other allele is unknown;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

characteristic: description

text: HISPANIC

text: CFTR

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

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

text: CF

text: Cystic fibrosis

text: Cystic fibrosis transmembrane conductance regulator

text: CFTR

text: GM12960 male affected CF sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: 26 YR

text: B-Lymphocyte

text: NINDS Repository

text: Ashkenazi Jewish

characteristic: family id

text: brother

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

characteristic: tag

text: ND23619 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 27 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;heterozygous for CFTR VAL520PHE (V520F) mutation

text: CFTR

text: Homo sapiens

text: Caucasian

text: Female

text: CF

text: Cystic fibrosis

text: CFTR

text: GM12961 female unaffected CF sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 15 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND23622 male affected Tourette syndrome sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Father

characteristic: description

text: UTAH/MORMON

characteristic: ethnicity

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Ceph/utah pedigree 1427

text: GM12968 male unaffected Ceph/utah pedigree 1427 sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 34 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: ND23623 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Mother

text: UTAH/MORMON

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/utah pedigree 1427

characteristic: tag

text: GM12969 female unaffected Ceph/utah pedigree 1427 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Tourette syndrome

text: 8 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND23624 male affected Tourette syndrome sample

characteristic: title


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

text: UTAH/MORMON

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 1427

text: GM12971 male unaffected Ceph/utah pedigree 1427 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 38 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND23625 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

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 1427

text: GM12972 female unaffected Ceph/utah pedigree 1427 sample


text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 10 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Tourette syndrome

text: ND23626 male affected Tourette syndrome sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

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 1427

characteristic: tag

text: GM12974 female unaffected Ceph/utah pedigree 1427 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 42 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND23627 female 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: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Son

text: UTAH/MORMON

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 1427

text: GM12975 male unaffected Ceph/utah pedigree 1427 sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 43 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND23628 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

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

characteristic: sex

text: Ceph/utah pedigree 1427

text: GM12976 female unaffected Ceph/utah pedigree 1427 sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Tourette syndrome

text: 22 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Tourette syndrome

text: ND23635 female affected Tourette syndrome sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Maternal Grandfather

text: UTAH/MORMON

text: maternal grandfather

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 1427

characteristic: tag

text: GM12977 male unaffected Ceph/utah pedigree 1427 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Tourette syndrome

text: 40 YR

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND23641 male affected Tourette syndrome sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Maternal Grandmother

text: UTAH/MORMON

text: maternal grandmother

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/utah pedigree 1427

text: GM12978 female unaffected Ceph/utah pedigree 1427 sample


text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 38 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Tourette syndrome

text: ND23642 female affected Tourette syndrome sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Paternal Grandfather

characteristic: description

text: UTAH/MORMON

characteristic: ethnicity

text: paternal grandfather

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Ceph/utah pedigree 1427

text: GM12979 male unaffected Ceph/utah pedigree 1427 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 7 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Tourette syndrome

text: ND23643 male affected Tourette syndrome sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: B-Lymphocyte

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 1427

characteristic: tag

text: GM12980 female unaffected Ceph/utah pedigree 1427 sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 36 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND23644 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

text: live

text: Generic

text: Fanconi anemia, complementation group c

text: 5 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;line HSC536;complementation group C;increased spontaneous chromosome breakage;increased sensitivity to DNA cross-linking agents;donor subject has a T>C transition at nucleotide 1916 in exon 14 of the FANCC gene 1916T>C resulting in a substitution of proline for leucine at codon 554 Leu554Pro (L554P);same patient as GM13021.

text: proband

text: FANCC

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Fanconi anemia, complementation group c

text: FANCC

text: GM13020 male affected Fanconi anemia, complementation group c sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Tourette syndrome

text: 10 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Tourette syndrome

text: ND23645 female affected Tourette syndrome sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Fanconi anemia, complementation group c

text: 5 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;line HSC536N;complementation group C;increased spontaneous chromosome breakage;increased sensitivity to DNA cross-linking agents;lipofected with the plasmid psv2neo and selected in medium with G418 (0.4mg/ml);donor subject has a T>C transition at nucleotide 1916 in exon 14 of the FANCC gene 1916T>C resulting in a substitution of proline for leucine at codon 554 Leu554Pro (L554P);same patient as GM13020.

characteristic: description

text: proband

text: FANCC

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Fanconi anemia, complementation group c

text: FANCC

text: GM13021 male affected Fanconi anemia, complementation group c sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Epilepsy

text: 24 YR

text: B-Lymphocyte

text: NINDS Repository

text: AGES OF DX/ONSET ARE UNKNOWN.

text: proband

text: Homo sapiens

text: More than one race

text: Female

text: Epilepsy

characteristic: tag

text: ND23646 female affected Epilepsy sample


text: Coriell

text: live

text: Generic

text: Fanconi anemia, complementation group a

text: 10 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;complementation group A;increased spontaneous chromosome breakage;increased sensitivity to DNA cross-linking agents.

text: Homo sapiens

text: Caucasian

text: Female

text: Fanconi anemia, complementation group a

text: FANCA

text: GM13022 female affected Fanconi anemia, complementation group a sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Epilepsy

text: 23 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: sibling

text: Homo sapiens

text: More than one race

text: Male

text: Epilepsy

text: ND23647 male affected Epilepsy sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 2 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;complementation group D1;increased spontaneous chromosome breakage;increased sensitivity to DNA cross-linking agents.

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: GM13023 male affected Fanconi anemia, complementation group d1 sample


text: Coriell

text: live

text: Generic

text: 40 YR

text: B-Lymphocyte

text: NINDS Repository

text: 1/2 Puerto Rican

characteristic: ethnicity

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: ND23652 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: XPB

text: 39 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: XPCS1BA;also has features of Cockayne syndrome;no evidence of malignancy;bilateral sensorineural hearing loss;dry skin;numerous freckles;hyperpigmented macules;broad-based choreoathetotic gait;brother of GM13026;donor subject is homozygous for a T>C transversion in the ERCC3 gene which results in a phenylalanine-99-to-serine missense mutation PHE99SER (F99S) .

characteristic: description

text: proband

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Xeroderma pigmentosum, complementation group b

text: XPB

text: Excision-repair: complementing defective in chinese hamster 3

text: GM13025 male affected XPB sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 36 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Ashkenazi Jewish (100%)

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND23653 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: XPB

text: 36 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: XPCS2BA;also has features of Cockayne syndrome;no evidence of malignancy;bilateral sensorineural hearing loss;dry skin;numerous freckles;hyperpigmented macules;broad-based choreoathetotic gait;brother of GM13025;donor subject is homozygous for a T>C transversion in the ERCC3 gene which results in a phenylalanine-99-to-serine missense mutation PHE99SER (F99S) .

characteristic: family id

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: XPB

text: GM13026 male affected XPB sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Tourette syndrome

text: 9 YR

text: B-Lymphocyte

text: NINDS Repository

text: Puerto Rican / Ashkenazi Jewish

characteristic: ethnicity

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Tourette syndrome

text: ND23658 male affected Tourette syndrome sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 63 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: XPCSH4BA;clinically unaffected mother of two sons with Xeroderma pigmentosum and features of Cockayne syndrome (GM13025 and GM13026);normal UV-induced unscheduled DNA synthesis;donor subject is presumed to be heterozygous for a T>C transversion in the ERCC3 gene which results in a phenylalanine-99-to-serine missense mutation PHE99SER (F99S) .

characteristic: description

text: mother

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: XPB

text: GM13027 female unaffected XPB sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Tourette syndrome

text: 42 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

text: Tourette syndrome

text: ND23675 female affected Tourette syndrome sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 71 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: XPCSH5BA;clinically unaffected father of two sons with Xeroderma pigmentosum and features of Cockayne syndrome (GM13025 and GM13026);normal UV-induced unscheduled DNA synthesis;donor subject is presumed to be heterozygous for a T>C transversion in the ERCC3 gene which results in a phenylalanine-99-to-serine missense mutation PHE99SER (F99S) .

characteristic: family id

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: XPB

text: GM13028 male unaffected XPB sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Tourette syndrome

text: 12 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Tourette syndrome

text: ND23676 male affected Tourette syndrome sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 31 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: XP44RO(MEL);culture established from a melanoma shows UV sensitivity & reduced unscheduled DNA synthesis;pt has had many skin tumors including basal cell carcinomas & a squamous cell carcinoma;no neurologic abnorms;passage 2 at CCR

characteristic: description

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: XPC

text: GM13030 male affected Xeroderma pigmentosum, complementation group c sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Epilepsy

text: 22 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: sibling

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

text: ND23683 female affected Epilepsy sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 44 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;benign missense variation;PHE508CYS (F508C);in CFTR;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: Male

text: CF

text: Cystic fibrosis

text: Cystic fibrosis transmembrane conductance regulator

text: CFTR

text: GM13033 male unaffected CF sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Epilepsy

text: 25 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

text: ND23684 female affected Epilepsy sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 6 DA

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;elevated birth weight & length;postaxial polydactyly;supernumerary nipples;macrostomia;midline groove in tongue;vertebral anomalies;intestinal malrotation;dilated ventricles diagnosed prenatally;at birth there was hypoglycemia;abdominal distension;bilious vomiting and poor feeding;donor subject has a G>T transversion at nucleotide IVS5+1 (IVS5+1G>T) of the GPC3 gene note: currently at nucleotide IVS7+1 (GenBank Build July;2006) that mutates the splice donor site and causes a silent change of Arg431 (AGA>AGT) and read through to a stop codon and premature termination

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Glypican 3

characteristic: tag

text: Simpson-golabi-behmel syndrome type 1

text: GM13034 male affected SGBS1 sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Progressive supranuclear palsy

text: 64 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Progressive supranuclear palsy

text: ND23690 male affected Progressive supranuclear palsy sample


text: Coriell

text: live

text: Generic

text: 31 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: XP33BE;sun sensitivity;freckling;2 skin cancers;hearing loss;diminished deep tendon reflexes;cerebellar dysfunction;microcephaly;affected brother has severe neurologic abnormalities;see GM13036 Fibroblast

characteristic: description

text: ENGLISH/IRISH

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: XPD

text: GM13035 female affected Xeroderma pigmentosum, complementation group d sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 54 YR

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND23691 female unaffected Population/convenience control sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 31 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: XP33BE;sun sensitivity;freckling;2 skin cancers;hearing loss;diminished deep tendon reflexes;cerebellar dysfunction;microcephaly;affected brother has severe neurologic abnormalities;see GM13035 Lymphoid

text: ENGLISH/IRISH

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: XPD

text: GM13036 female affected Xeroderma pigmentosum, complementation group d sample


text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 12 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Tourette syndrome

characteristic: tag

text: ND23697 male affected Tourette syndrome sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 67 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: XPH137BE;clinically unaffected;2 affected children

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: XPD

text: GM13037 female unaffected Xeroderma pigmentosum, complementation group d sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 63 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Romanian

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: ND23698 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 72 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: XPH136BE;clinically unaffected;2 affected children

characteristic: description

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: XPD

text: GM13038 male unaffected Xeroderma pigmentosum, complementation group d sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 42 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND23711 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

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Maternal Grandfather Same as 1328-01 and 13293-12

text: UTAH/MORMON

characteristic: ethnicity

text: maternal grandfather

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 13281

text: GM13041 male unaffected Ceph/utah pedigree 13281 sample


text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 11 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Tourette syndrome

text: ND23712 male 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: Maternal Grandfather Same as 1328-01 and 13281-08

text: UTAH/MORMON

text: maternal grandfather

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 13293

characteristic: tag

text: GM13042 male unaffected Ceph/utah pedigree 13293 sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 42 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: ND23713 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: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Maternal Grandmother Same as 1328-02 and 13293-13

characteristic: description

text: UTAH/MORMON

text: maternal grandmother

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/utah pedigree 13281

text: GM13043 female unaffected Ceph/utah pedigree 13281 sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 42 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND23714 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Maternal Grandmother Same as 1328-02 and 13281-09

text: UTAH/MORMON

characteristic: ethnicity

characteristic: family id

text: maternal grandmother

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/utah pedigree 13293

text: GM13044 female unaffected Ceph/utah pedigree 13293 sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Tourette syndrome

text: 11 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Tourette syndrome

text: ND23715 male affected Tourette syndrome sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Paternal Grandfather Same as 13292-12

text: UTAH/MORMON

text: paternal grandfather

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 13294

characteristic: tag

text: GM13045 male unaffected Ceph/utah pedigree 13294 sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Tourette syndrome

text: 17 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Tourette syndrome

text: ND23716 male affected Tourette syndrome sample


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

text: Paternal Grandmother Same as 13292-13

characteristic: description

text: UTAH/MORMON

text: paternal grandmother

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/utah pedigree 13294

text: GM13046 female unaffected Ceph/utah pedigree 13294 sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Progressive supranuclear palsy

text: 59 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Progressive supranuclear palsy

text: ND23723 female affected Progressive supranuclear palsy sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Paternal Grandfather Same as 13291-10;13293-10;& 13294-11

text: UTAH/MORMON

characteristic: ethnicity

characteristic: family id

text: paternal grandfather

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Ceph/utah pedigree 13292

text: GM13047 male unaffected Ceph/utah pedigree 13292 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 62 YR

text: B-Lymphocyte

text: NINDS Repository

text: father with stroke- sample not in Repository

text: spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: tag

text: ND23724 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: Paternal Grandfather Same as 13291-10;13292-10;& 13294-11

text: UTAH/MORMON

text: paternal grandfather

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 13293

text: GM13048 male unaffected Ceph/utah pedigree 13293 sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 51 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: ND23725 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

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Maternal Grandfather Same as 13291-10;13292-10;& 13293-10

text: UTAH/MORMON

text: maternal grandfather

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 13294

text: GM13049 male unaffected Ceph/utah pedigree 13294 sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Tourette syndrome

text: 14 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND23726 male affected Tourette syndrome sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Paternal Grandmother Same as 13291-11;13293-11;& 13294-12

characteristic: description

text: UTAH/MORMON

characteristic: ethnicity

characteristic: family id

text: paternal grandmother

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/utah pedigree 13292

text: GM13050 female unaffected Ceph/utah pedigree 13292 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 44 YR

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

characteristic: tag

text: ND23732 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Paternal Grandmother Same as 13291-11;13292-11;& 13294-12

text: UTAH/MORMON

text: paternal grandmother

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/utah pedigree 13293

text: GM13051 female unaffected Ceph/utah pedigree 13293 sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 42 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Tourette syndrome

text: ND23733 female affected Tourette syndrome sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Maternal Grandmother Same as 13291-11;13292-11;& 13293-11

text: UTAH/MORMON

text: maternal grandmother

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/utah pedigree 13294

text: GM13052 female unaffected Ceph/utah pedigree 13294 sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Tourette syndrome

text: 16 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND23734 male affected Tourette syndrome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Mother Same as 1328-03

characteristic: description

text: UTAH/MORMON

characteristic: ethnicity

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/utah pedigree 13293

text: GM13053 female unaffected Ceph/utah pedigree 13293 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 80 YR

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Population/convenience control

characteristic: tag

text: ND23737 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: Mother Same as 1328-04

text: UTAH/MORMON

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/utah pedigree 13281

text: GM13054 female unaffected Ceph/utah pedigree 13281 sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Parkinson disease

text: 82 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Parkinson disease

text: ND23738 male affected Parkinson disease sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Maternal Grandfather Same as 102-01

text: VENEZUELAN

text: maternal grandfather

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/venezuelan pedigree 104

text: GM13055 male unaffected Ceph/venezuelan pedigree 104 sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Tourette syndrome

text: 37 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND23748 male affected Tourette syndrome sample


text: Coriell

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Mother Same as 102-05

characteristic: description

text: VENEZUELAN

characteristic: ethnicity

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/venezuelan pedigree 104

text: GM13056 female unaffected Ceph/venezuelan pedigree 104 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 36 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: ND23749 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

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Maternal Grandmother Same as 102-02. This cell line may be monoclonal as indicated by the very high proportion of IgL lambda (99.8%) compared to total lgL expression determined by cDNA microarray (see PMID: 14583597).

text: VENEZUELAN

text: maternal grandmother

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/venezuelan pedigree 104

characteristic: tag

text: GM13057 female unaffected Ceph/venezuelan pedigree 104 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Paternal Grandmother Same as 1344-15

text: UTAH/MORMON

text: paternal grandmother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Ceph/utah pedigree 1375

text: GM13060 female unaffected Ceph/utah pedigree 1375 sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Tourette syndrome

text: 8 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND23750 male affected Tourette syndrome sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 56 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Phenotypically normal

characteristic: description

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Apparently healthy non-fetal tissue

text: GM13068 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Tourette syndrome

text: 13 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Tourette syndrome

text: ND23751 male affected Tourette syndrome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 27 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: 46;XX;the mean number of SCEs observed was 8 exchanges per cell examined

text: Homo sapiens

text: Caucasian

text: Female

text: Apparently healthy non-fetal tissue

characteristic: tag

text: GM13069 female unaffected Apparently healthy non-fetal tissue sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 40 YR

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: ND23752 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 60 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Phenotypically normal

text: Homo sapiens

text: Caucasian

text: Male

text: Apparently healthy non-fetal tissue

text: GM13070 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Ischemic stroke

text: 50 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Other

text: Female

text: Ischemic stroke

text: ND23759 female affected Ischemic stroke sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Fanconi anemia, complementation group b

text: 3 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;complementation group B;increased spontaneous chromosome breakage;increased sensitivity to DNA cross-linking agents.

characteristic: description

text: Homo sapiens

text: Caucasian

text: Male

text: Fanconi anemia, complementation group b

text: FANCB

text: GM13071 male affected Fanconi anemia, complementation group b sample


text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 30 YR

text: B-Lymphocyte

text: NINDS Repository

text: Irish mom;jewish father

characteristic: ethnicity

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Tourette syndrome

text: ND23763 male affected Tourette syndrome sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 4 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Line HSC93;congenital dislocated hip

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Apparently healthy non-fetal tissue

characteristic: tag

text: GM13072 female unaffected Apparently healthy non-fetal tissue sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 66 YR

text: B-Lymphocyte

text: NINDS Repository

text: Irish

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: ND23764 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: Glycogen storage disease i

text: 6 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Type 1a;hispanic;lactic acidemia;hyperlipidemia;hypoglycemia;hepatomegaly;glucose-6-phosphatase deficiency confirmed by liver biopsy

text: HISPANIC

text: Homo sapiens

text: Caucasian

text: Female

text: Glycogen storage disease i

text: GM13073 female affected Glycogen storage disease i sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Tourette syndrome

text: 10 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: More than one race

text: Male

text: Tourette syndrome

text: ND23780 male affected Tourette syndrome sample


text: Coriell

text: live

text: Generic

text: 5 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;mother noted unusual tremor-like fetal movements in utero 3-4 weeks before delivery;at birth: large head;jittery;stiff;with poor suck;at age 2 weeks: stiffening seizure;duskiness;auditory startle and bradycardia;since then: recurring stiffening seizures;bradycardia;myoclonus;jitteriness;and abnormal EEG (central apneas present);BAER revealed only waveforms I and III suggestive of upper pontine dysfunction;regular seizures from 1 to 5 per day;poor oral motor skills;will not follow with gaze;on phenobarbital and Klonopin

characteristic: description

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: GM13078 female affected Myoclonic epilepsy neonatal with suppression-burst pattern sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 48 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: father

text: Homo sapiens

text: More than one race

characteristic: race

text: Male

text: ND23781 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 51 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Apparently healthy non-fetal tissue

text: GM13079 female unaffected Apparently healthy non-fetal tissue sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Tourette syndrome

text: 21 YR

text: B-Lymphocyte

text: NINDS Repository

text: Ashkenazi Jewish

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

characteristic: tag

text: ND23803 male affected Tourette syndrome sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Immunoosseous dysplasia

text: 5 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Dwarfism;T-cell dysfunction;seizures;bone dysplasia;lethargic;irritable;extreme light sensitivity;kidney disease with renal failure

text: ENGLISH

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Immunoosseous dysplasia

text: GM13085 male affected Immunoosseous dysplasia sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Epilepsy

text: 20 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Other

text: Female

text: Epilepsy

text: ND23807 female affected Epilepsy sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Paternal Grandfather

characteristic: description

text: AMISH

characteristic: family id

text: paternal grandfather

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Ceph/amish pedigree 884

text: GM13111 male unaffected Ceph/amish pedigree 884 sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Epilepsy

text: 18 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: sibling

text: Homo sapiens

text: Other

characteristic: race

text: Male

text: Epilepsy

text: ND23809 male affected Epilepsy sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Paternal Grandmother

text: AMISH

characteristic: ethnicity

text: paternal grandmother

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/amish pedigree 884

characteristic: tag

text: GM13112 female unaffected Ceph/amish pedigree 884 sample