text: Coriell

text: live

text: Generic

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

characteristic: sex

text: Ceph/utah pedigree 1354

text: GM12397 male unaffected Ceph/utah pedigree 1354 sample


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

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 30 YR

tag: attribute

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: unaffected spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Control

characteristic: tag

text: Population/convenience control

text: ND22775 male unaffected Control sample

characteristic: title


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Paternal Grandmother

characteristic: description

text: UTAH/MORMON

characteristic: ethnicity

text: paternal grandmother

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/utah pedigree 1354

text: GM12398 female unaffected Ceph/utah pedigree 1354 sample


characteristic: Coriell plate

characteristic: External Id

characteristic: HapMap sample ID

text: Coriell

characteristic: INSDC secondary accession

text: live

text: Generic

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

characteristic: Population Description

characteristic: SRA accession

text: EUR

characteristic: Super Population Code

text: European

characteristic: Super Population Description

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: culture collection

text: Maternal Grandfather

text: UTAH/MORMON

text: maternal grandfather

text: Homo sapiens

text: CEU

characteristic: population

text: Caucasian

characteristic: race

text: male

characteristic: sex

text: Ceph/utah pedigree 1354

text: Coriell GM12399


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 40 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Tourette syndrome

characteristic: tag

text: ND22782 male unaffected Tourette syndrome sample

characteristic: title


characteristic: Coriell plate

characteristic: DNA id

characteristic: External Id

characteristic: HapMap sample ID

text: Coriell

characteristic: INSDC secondary accession

text: live

text: Generic

characteristic: Population Description

characteristic: SRA accession

text: EUR

characteristic: Super Population Code

text: European

characteristic: Super Population Description

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Maternal Grandmother

characteristic: description

text: UTAH/MORMON

characteristic: ethnicity

text: maternal grandmother

text: Homo sapiens

text: CEU

text: Caucasian

text: female

text: Ceph/utah pedigree 1354

text: Coriell GM12400


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Tourette syndrome

text: 39 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Tourette syndrome

text: ND22783 female affected Tourette syndrome sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Mother

text: UTAH/MORMON

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Ceph/utah pedigree 1355

characteristic: tag

text: GM12401 female unaffected Ceph/utah pedigree 1355 sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

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 1355

text: GM12403 male unaffected Ceph/utah pedigree 1355 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: 10 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND22784 male affected Tourette syndrome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Son

text: UTAH/MORMON

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 1355

text: GM12404 male unaffected Ceph/utah pedigree 1355 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

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Ceph/utah pedigree 1355

text: GM12405 female unaffected Ceph/utah pedigree 1355 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Epilepsy

text: 8 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: FAMILY HISTORY OF ALZHEIMERS

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Epilepsy

text: ND22800 female affected Epilepsy sample


characteristic: DNA 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

text: Ceph/utah pedigree 1355

characteristic: tag

text: GM12406 male unaffected Ceph/utah pedigree 1355 sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Epilepsy

text: 24 MO

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Mexican

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

text: ND22801 female affected Epilepsy sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son

characteristic: description

text: UTAH/MORMON

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 1355

text: GM12407 male unaffected Ceph/utah pedigree 1355 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 28 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND22802 female 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

text: Son

text: UTAH/MORMON

text: son

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Ceph/utah pedigree 1355

text: GM12408 male unaffected Ceph/utah pedigree 1355 sample


text: Coriell

text: live

text: Generic

text: 30 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: ND22803 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son

text: UTAH/MORMON

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 1355

characteristic: tag

text: GM12409 male unaffected Ceph/utah pedigree 1355 sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 31 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND22804 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Daughter

characteristic: description

text: UTAH/MORMON

characteristic: ethnicity

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/utah pedigree 1355

text: GM12410 female unaffected Ceph/utah pedigree 1355 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Epilepsy

text: 36 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: FAMILY HISTORY OF ALZHEIMERS.

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

text: ND22805 female affected Epilepsy sample


text: Coriell

text: live

text: Generic

characteristic: cell line

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

characteristic: sex

text: Ceph/utah pedigree 1355

text: GM12411 female unaffected Ceph/utah pedigree 1355 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Parkinson disease

text: 64 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Parkinson disease

text: ND22814 female affected Parkinson disease sample


characteristic: Coriell plate

characteristic: DNA id

characteristic: HapMap sample ID

text: Coriell

characteristic: INSDC first public

characteristic: INSDC secondary accession

text: live

text: Generic

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

characteristic: Population Description

characteristic: SRA accession

text: EUR

characteristic: Super Population Code

text: European

characteristic: Super Population Description

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: culture collection

text: Paternal Grandfather

text: UTAH/MORMON

text: paternal grandfather

text: Homo sapiens

text: CEU

characteristic: population

text: Caucasian

text: male

text: Ceph/utah pedigree 1355

characteristic: tag

text: Coriell GM12413

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Tourette syndrome

text: 8 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Tourette syndrome

text: ND22826 male affected Tourette syndrome sample


characteristic: Coriell plate

characteristic: DNA id

characteristic: HapMap sample ID

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC secondary accession

text: live

text: Generic

characteristic: Population Description

characteristic: SRA accession

text: EUR

characteristic: Super Population Code

text: European

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Paternal Grandmother

characteristic: description

text: UTAH/MORMON

characteristic: ethnicity

text: paternal grandmother

text: Homo sapiens

characteristic: organism

text: CEU

text: Caucasian

text: female

text: Ceph/utah pedigree 1355

text: Coriell GM12414


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 42 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND22827 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

characteristic: collection

text: Daughter

text: UTAH/MORMON

characteristic: family id

text: daughter

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Ceph/utah pedigree 1355

text: GM12415 female unaffected Ceph/utah pedigree 1355 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Epilepsy

text: 22 YR

text: B-Lymphocyte

text: NINDS Repository

text: sibling

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Epilepsy

text: ND22834 female affected Epilepsy sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 37 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected parent of an affected child;heterozygous for 1717-1G>A IVS10AS;G>A;-1 mutation;proband not in repository;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: CFTR

characteristic: gene

characteristic: mutation

text: -1 (1717-1G>A)

text: G>A

text: Homo sapiens

text: Caucasian

text: Male

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

text: CF

text: Cystic fibrosis

text: Cystic fibrosis transmembrane conductance regulator

text: CFTR

text: GM12444 male unaffected CF sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Epilepsy

text: 15 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy

text: ND22835 male affected Epilepsy sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Protease inhibitor 1

text: 3 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Liver biopsy fibroblast culture from hilar connective tissue;biliary cirrhosis with hepatocellular deposits consistent with the diagnosis;acute and chronic cholangitis;fibroblast DNA Pi type ZZ confirmed by allele specific amplification

text: Homo sapiens

text: Caucasian

text: Male

text: PI

characteristic: tag

text: Protease inhibitor 1

text: GM12445 male affected Protease inhibitor 1 sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 58 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Control

text: Population/convenience control

text: ND22897 female unaffected Control sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 29 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Phenotypically normal;multiple miscarriages

characteristic: description

text: 46;XX;t(1;6)(1qter>1p36.1::6q15> 6qter;6pter>6q15::1p36.1>1pter)

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Translocated chromosome

text: GM12446 female unaffected Translocated chromosome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 59 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Control

text: Population/convenience control

text: ND22898 male unaffected Control sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Apert syndrome

text: 6 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Acrocephalosyndactyly;syndactyly of all 4 extremities including partial bony fusion in phalanges and fusion of thumb and 1st 2 fingers bilaterally (atypical);facial anomalies with hypertelorism;cleft palate and large mandible;46;XY in PBL

text: Homo sapiens

text: Caucasian

text: Male

text: Apert syndrome

text: GM12451 male affected Apert syndrome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 57 YR

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Control

characteristic: tag

text: Population/convenience control

text: ND22920 female unaffected Control sample

characteristic: title


text: Coriell

text: live

text: Generic

text: Amniotic fluid-derived cell line

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: De novo;47;XY;+psu dic(15)(q13)

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Dicentric chromosome

text: GM12452 male unaffected Dicentric chromosome sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 57 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Control

text: Population/convenience control

text: ND22921 male unaffected Control sample


characteristic: DNA id

text: Coriell

text: live

characteristic: INSDC status

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 1356

text: GM12455 male unaffected Ceph/utah pedigree 1356 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 68 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Control

text: Population/convenience control

text: ND22943 female unaffected Control sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Mother

text: UTAH/MORMON

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/utah pedigree 1356

text: GM12456 female unaffected Ceph/utah pedigree 1356 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 61 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Control

characteristic: tag

text: Population/convenience control

text: ND22944 male unaffected Control sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son

text: UTAH/MORMON

characteristic: family id

text: son

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Ceph/utah pedigree 1356

text: GM12457 male unaffected Ceph/utah pedigree 1356 sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Tourette syndrome

text: 48 YR

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND22960 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: Daughter

characteristic: description

text: UTAH/MORMON

characteristic: ethnicity

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/utah pedigree 1356

text: GM12458 female unaffected Ceph/utah pedigree 1356 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Daughter

text: UTAH/MORMON

text: daughter

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Ceph/utah pedigree 1356

text: GM12459 female unaffected Ceph/utah pedigree 1356 sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 37 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND22961 female 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: Daughter

text: UTAH/MORMON

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/utah pedigree 1356

characteristic: tag

text: GM12460 female unaffected Ceph/utah pedigree 1356 sample

characteristic: title


text: Coriell

characteristic: INSDC last update

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

characteristic: sex

text: Ceph/utah pedigree 1356

text: GM12461 female unaffected Ceph/utah pedigree 1356 sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Tourette syndrome

text: 12 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND22962 male affected Tourette syndrome sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son

characteristic: description

text: UTAH/MORMON

characteristic: ethnicity

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 1356

text: GM12462 male unaffected Ceph/utah pedigree 1356 sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

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 1356

text: GM12463 male unaffected Ceph/utah pedigree 1356 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Epilepsy

text: 1 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

text: ND22963 female affected Epilepsy sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Daughter

text: UTAH/MORMON

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/utah pedigree 1356

characteristic: tag

text: GM12464 female unaffected Ceph/utah pedigree 1356 sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 35 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: father

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: ND22964 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Paternal Grandmother

characteristic: description

text: UTAH/MORMON

text: paternal grandmother

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/utah pedigree 1356

text: GM12465 female unaffected Ceph/utah pedigree 1356 sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: 40 YR

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: ND22965 male 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

text: NIGMS Human Genetic Cell Repository

text: Maternal Grandmother

text: UTAH/MORMON

characteristic: ethnicity

text: maternal grandmother

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/utah pedigree 1356

text: GM12466 female unaffected Ceph/utah pedigree 1356 sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 41 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND22966 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

characteristic: INSDC status

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

text: Female

text: Ceph/utah pedigree 1356

characteristic: tag

text: GM12467 female unaffected Ceph/utah pedigree 1356 sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Tourette syndrome

text: 12 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Tourette syndrome

text: ND22967 female affected Tourette syndrome sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Father

characteristic: description

text: UTAH/MORMON

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 1357

text: GM12470 male unaffected Ceph/utah pedigree 1357 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 36 YR

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

characteristic: organism

text: Asian

text: Male

text: Tourette syndrome

text: ND22970 male unaffected Tourette syndrome sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Mother

text: UTAH/MORMON

characteristic: ethnicity

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/utah pedigree 1357

text: GM12471 female unaffected Ceph/utah pedigree 1357 sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 37 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Tourette syndrome

text: ND22971 female unaffected Tourette syndrome 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

characteristic: family id

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/utah pedigree 1357

characteristic: tag

text: GM12472 female unaffected Ceph/utah pedigree 1357 sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

text: Tourette syndrome

text: 7 YR

text: B-Lymphocyte

text: NINDS Repository

text: Asian and White both endorsed

text: proband

text: Homo sapiens

text: Asian

characteristic: race

text: Male

characteristic: sex

text: Tourette syndrome

text: ND22972 male affected Tourette syndrome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son

characteristic: description

text: UTAH/MORMON

text: son

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Ceph/utah pedigree 1357

text: GM12473 male unaffected Ceph/utah pedigree 1357 sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 40 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND22973 male unaffected Tourette syndrome sample


characteristic: DNA id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son

text: UTAH/MORMON

characteristic: ethnicity

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 1357

text: GM12474 male unaffected Ceph/utah pedigree 1357 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 44 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Tourette syndrome

text: ND22974 female unaffected Tourette syndrome sample


text: Coriell

characteristic: INSDC first public

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

text: Female

text: Ceph/utah pedigree 1357

characteristic: tag

text: GM12475 female unaffected Ceph/utah pedigree 1357 sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Tourette syndrome

text: 10 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Tourette syndrome

text: ND22975 female affected Tourette syndrome sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son

characteristic: description

text: UTAH/MORMON

text: son

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Ceph/utah pedigree 1357

text: GM12476 male unaffected Ceph/utah pedigree 1357 sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 26 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: ND22977 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Daughter

text: UTAH/MORMON

characteristic: ethnicity

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/utah pedigree 1357

text: GM12477 female unaffected Ceph/utah pedigree 1357 sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 20 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: ND22978 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

text: Son

text: UTAH/MORMON

characteristic: family id

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 1357

characteristic: tag

text: GM12478 male unaffected Ceph/utah pedigree 1357 sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

text: 18 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: ND22979 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

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

characteristic: organism

text: Caucasian

text: Female

text: Ceph/utah pedigree 1357

text: GM12479 female unaffected Ceph/utah pedigree 1357 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Epilepsy

text: 44 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Asian

text: Female

text: Epilepsy

text: ND22980 female affected Epilepsy 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

characteristic: ethnicity

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 1357

text: GM12480 male unaffected Ceph/utah pedigree 1357 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 66 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Ashkenazi Jewish or Eastern European Jewish

text: parent

text: Homo sapiens

text: More than one race

text: Male

text: ND22981 male 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: Paternal Grandmother

text: UTAH/MORMON

characteristic: family id

text: paternal grandmother

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/utah pedigree 1357

characteristic: tag

text: GM12481 female unaffected Ceph/utah pedigree 1357 sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Epilepsy

text: 2 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Epilepsy

text: ND22993 male affected Epilepsy sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Maternal Grandmother

characteristic: description

text: UTAH/MORMON

text: maternal grandmother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Ceph/utah pedigree 1357

text: GM12482 female unaffected Ceph/utah pedigree 1357 sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 36 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: ethnicity

text: parent

text: Homo sapiens

text: More than one race

text: Male

text: ND22994 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Daughter

text: UTAH/MORMON

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/utah pedigree 1357

text: GM12483 female unaffected Ceph/utah pedigree 1357 sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Son

text: UTAH/MORMON

characteristic: family id

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 1357

text: GM12484 male unaffected Ceph/utah pedigree 1357 sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 65 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: parent

text: Homo sapiens

text: More than one race

text: Female

characteristic: tag

text: ND22995 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: NCBI submission model

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Father

text: UTAH/MORMON

text: father

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

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

text: Ceph/utah pedigree 1355

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

text: GM12485 male unaffected Ceph/utah pedigree 1355 sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son

characteristic: description

text: UTAH/MORMON

text: son

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Ceph/utah pedigree 1355

text: GM12486 male unaffected Ceph/utah pedigree 1355 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 62 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND23031 male 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

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Son

text: UTAH/MORMON

characteristic: ethnicity

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 1355

text: GM12487 male unaffected Ceph/utah pedigree 1355 sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 29 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: German/Scottish/Dutch

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND23032 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Daughter

text: UTAH/MORMON

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/utah pedigree 1353

characteristic: tag

text: GM12488 female unaffected Ceph/utah pedigree 1353 sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: Tourette syndrome

text: 9 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Tourette syndrome

text: ND23033 female affected Tourette syndrome sample


characteristic: Coriell plate

characteristic: HapMap sample ID

text: Coriell

characteristic: INSDC first public

characteristic: INSDC secondary accession

text: live

text: Generic

characteristic: NCBI submission package

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: Maternal Grandmother

characteristic: description

text: UTAH/MORMON

text: maternal grandmother

text: Homo sapiens

text: CEU

characteristic: population

text: Caucasian

text: female

characteristic: sex

text: Ceph/utah pedigree 1353

text: Coriell GM12489


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 35 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Ashkenazi Jewish or Eastern European Jewish

characteristic: ethnicity

characteristic: family id

text: parent

text: Homo sapiens

characteristic: organism

text: More than one race

text: Female

characteristic: tag

text: ND23034 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son

text: UTAH/MORMON

text: son

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Ceph/utah pedigree 1328

text: GM12490 male unaffected Ceph/utah pedigree 1328 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 36 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: ND23131 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Daughter

characteristic: description

text: UTAH/MORMON

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/utah pedigree 1330

text: GM12491 female unaffected Ceph/utah pedigree 1330 sample


text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 11 YR

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: ND23132 male affected Tourette syndrome sample


text: Coriell

text: live

text: Generic

text: 78 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Ptosis;full eye movements;trouble with vision;slurred speech;recent history of proximal arm and leg muscle weakness;difficulty rising to stand;has IDDM;in 1992;acetylcholine receptor antibody titers were normal;diagnosis uncertain

text: ITALIAN

characteristic: ethnicity

characteristic: family id

text: brother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Myasthenia gravis

characteristic: tag

text: MG

text: GM12492 male unaffected Myasthenia gravis sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

text: 54 YR

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND23133 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 27 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;one affected child

text: mother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: GM12494 female unaffected Cockayne syndrome type a - 216400 or type iii - 216411 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 46 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: ND23134 female 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

text: 29 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: description

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: GM12495 male unaffected Cockayne syndrome type a - 216400 or type iii - 216411 sample


text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 15 YR

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: ND23135 male affected Tourette syndrome sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 3 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Sun sensitivity;microcephaly;mental retardation;growth retardation;ataxia;typical facies

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: GM12496 male affected Cockayne syndrome type a - 216400 or type iii - 216411 sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

text: Tourette syndrome

text: 8 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

characteristic: tag

text: ND23136 male affected Tourette syndrome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 7 MO

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;1 affected sib;small for age;see GM12583 Fibroblast

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: GM12497 female unaffected Cockayne syndrome type a - 216400 or type iii - 216411 sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 37 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: ND23137 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

text: 48 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Amish;clinically unaffected mother of GM13301;3 cousins died in childhood with liver disease;spouse & 2nd cousin of GM12499

text: AMISH

characteristic: ethnicity

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: GM12498 female unaffected Cholestasis, progressive familial intrahepatic 1 sample


text: Coriell

text: live

text: Generic

text: 49 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: ND23138 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 45 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Amish;clinically unaffected father of GM13301;spouse & 2nd cousin of GM12498A

characteristic: description

text: AMISH

characteristic: family id

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: GM12499 male unaffected Cholestasis, progressive familial intrahepatic 1 sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

text: 45 YR

text: B-Lymphocyte

text: NINDS Repository

text: Ashkenazi Jewish

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: ND23139 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: Coriell plate

characteristic: DNA id

characteristic: External Id

characteristic: HapMap sample ID

text: Coriell

characteristic: INSDC secondary accession

text: live

text: Generic

characteristic: NCBI submission package

text: 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: Maternal Grandfather

text: UTAH/MORMON

text: maternal grandfather

text: Homo sapiens

text: CEU

characteristic: population

text: Caucasian

text: male

text: Ceph/utah pedigree 1353

text: Coriell GM12546

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 42 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Ashkenazi Jew

characteristic: ethnicity

characteristic: family id

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: ND23140 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Father

characteristic: description

text: FRENCH

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Human variation panel - european caucasian panel of 24

characteristic: tag

text: Ceph/french pedigree 66

text: GM12547 male unaffected Ceph/french pedigree 66 sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: Tourette syndrome

text: 11 YR

text: B-Lymphocyte

text: NINDS Repository

text: Ashkenazi Jewish

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND23141 male affected Tourette syndrome sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Mother

text: FRENCH

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/french pedigree 66

text: GM12548 female unaffected Ceph/french pedigree 66 sample


text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 18 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: ND23142 male affected Tourette syndrome sample


text: Coriell

text: live

text: Generic

text: 25 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Secondary amenorrhea

text: 46;X;der(X)(Xpter>Xq13::3p12>3pter);der(3)(3qter >3q10::Xq13>Xqter);der(3)(:p10>p12:).ish der(3))(3qter >3q10::Xq13>Xqter)(D3Z1+);der(3)(:p10>p12:)(D3Z1+);47;X;der(X)(Xpter>Xq13::3p12>3pter);der(3)(3qter >3q10::Xq13>Xqter);+der(3)(:p12>p10:).ish der(3)(3qter >3q10::Xq13>Xqter)(D3Z1+);der(3)(:p12>p10:)(D3Z1+)

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Asiatic Indian

text: Female

text: Translocated chromosome

text: GM12573 female unaffected Translocated chromosome sample


text: Coriell

text: live

text: Generic

text: 49 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: ND23143 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;small for age;1 affected sib;see GM12497 Lymphoid;affected brother is GM12496 Lymphoid;parents are GM12494 & 12495 Lymphoid

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: GM12583 female unaffected Cockayne syndrome type a - 216400 or type iii - 216411 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Parkinson disease

text: 75 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinson disease

characteristic: tag

text: ND23160 male affected Parkinson disease sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: 34 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Phenotypically normal;46;XX;fetus had a balanced;46;XY;t(3;15)(q22;q25);karyotype;proband not in Repository

characteristic: description

text: parent

text: Homo sapiens

text: Caucasian

text: Female

text: Apparently healthy non-fetal tissue

text: GM12593 female unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 44 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND23163 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

text: live

text: Generic

text: Hypoplastic left heart syndrome

text: 10 DA

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Mild facial dysmorphism;bilateral hip dislocation;hypoplastic fingernails;mild microcephaly;aortic atresia;mitral atresia;expired at age 10 days

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Hypoplastic left heart syndrome

text: GM12601 male affected Hypoplastic left heart syndrome sample


text: Coriell

text: live

text: Generic

text: 37 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: ND23164 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

text: OTC

text: 7 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Liver biopsy fibroblast culture;episodes of confusion;disorientation;and altered environmental contact due to intermittent hyperammonemia (ammonia 263);elevated levels of transaminases (SGPT 110;SGOT 83);slight prolongation of her prothrombin time and partial thromboplastin time;subject is heterozygous for a GAT to GTT point mutation in exon 5 of the OTC gene resulting in a substitution of valine for aspartic acid at codon 175 Asp175Val (D175V);the subject also has two polymorphisms: K46R in exon 2 and Q270R in exon 8

text: OTC

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Ornithine transcarbamylase deficiency, hyperammonemia due to

text: OTC

text: Ornithine carbamoyltransferase

text: GM12604 female affected OTC sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: 44 YR

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: ND23166 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 9 MO

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Cleft palate;bilateral hydronephrosis & hydroureter;congenital heart defect

characteristic: description

text: 47;XY;+del(13)(pter->q21.2:).arr 13q11q21.2(17943628-59139422)x3;47;XY;+del(13)(pter>q21.1:)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Copy number variation (cnv) reference panel

text: Chromosome deletion

text: GM12606 male unaffected Aneuploid chromosome number - non-trisomic sample


text: Coriell

text: live

text: Generic

text: 43 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

characteristic: family id

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: ND23167 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

text: Reticulosis

text: 2 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Lung fibroblast culture;generalized angiocentric malignant T-lympho-proliferative process involving almost all organs;with massive involvement of the brain;lungs;liver;G I tract;spleen;and kidneys;Cushinoid body habitus and marked vascular change in adrenal cortex;renal tubular injury with calcinosis;severe thymic involution;bone marrow emboli in lungs;peri-pancreatic fat;and thyroid glands;similarly affected sister expired at age 9;46;XX in bone marrow

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Familial histiocytic

text: Reticulosis

text: GM12610 female affected Reticulosis sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: Tourette syndrome

text: 10 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

characteristic: tag

text: ND23168 male affected Tourette syndrome sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Epidermolysis bullosa letalis

text: 5 MO

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Slipping skin;blisters;sepsis;expired at age 5 mo;EM exam shows basement membrane was detached from the epidermal surface & was clearly attached to the dermal surface by several well-formed anchoring fibrils

text: Homo sapiens

text: Caucasian

text: Male

text: Epidermolysis bullosa letalis

text: GM12644 male affected Epidermolysis bullosa letalis sample


text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 20 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND23171 male affected Tourette syndrome sample


text: Coriell

text: live

text: Generic

text: Multiple sulfatase deficiency

text: 2 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Hepatosplenomegaly;mucopolysacchariduria;neurodegeneration;skeletal abnormalities;micropenis;polydactyly;less than 10% of control ASA;ASB;GalNAc6-S;ID-S;and STS activity;46;XY in PBL

characteristic: description

text: Homo sapiens

text: Caucasian

text: Male

text: Multiple sulfatase deficiency

text: GM12659 male affected Multiple sulfatase deficiency sample


text: Coriell

text: live

text: Generic

text: 49 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND23172 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 10 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Seizures;profound mental retardation

text: 46;dup(X)(pter->q28::q28->qter);del(Y)(pter->q11.223).ish del(Y)(DXYS129/DXYS153+;SRY+;DYZ3+;DYZ1+;Z43206+).arr Xq28(151659961-154582680)x2;Yq11.223q11.23(22769319-27097245)x0;46;dup(X)(pter>q28::q28>qter);del(Y)(pter>q11.223::q11.23>qter) . ish del(Y)( DXYS129;DXYS153 +;SRY+;DYZ3+;DYZ1+;Z43206+).arr Xq28(151659131-154582680)x2 Yq11.223q11.23(22769319-26966624)x0

characteristic: karyotype

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Chromosome deletion

text: GM12662 male unaffected Chromosome deletion sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

text: 49 YR

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: ND23173 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: 45 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Fatigable weakness since infancy;negative family history;clinical diagnosis of neuromuscular transmission defect established by electromyography;lab diagnosis based on absence of acetylcholinesterase cytochemically & immunocytochemically

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: EAD

text: GM12690 male affected Endplate acetylcholinesterase deficiency sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 58 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Control

text: Population/convenience control

text: ND23179 female unaffected Control sample


text: Coriell

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Father;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.

characteristic: description

text: UTAH/MORMON

characteristic: ethnicity

characteristic: family id

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

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 1358

text: GM12707 male unaffected International hapmap project - ceph (plate i) utah residents with ancestry from northern and western europe sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Mother

text: UTAH/MORMON

text: mother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Ceph/utah pedigree 1358

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

text: GM12708 female unaffected Ceph/utah pedigree 1358 sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

text: 46 YR

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: ND23186 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son

text: UTAH/MORMON

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 1358

text: GM12709 male unaffected Ceph/utah pedigree 1358 sample


text: Coriell

text: live

characteristic: INSDC status

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

text: Ceph/utah pedigree 1358

characteristic: tag

text: GM12710 male unaffected Ceph/utah pedigree 1358 sample


text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 13 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: ND23188 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

characteristic: organism

text: Caucasian

text: Female

text: Ceph/utah pedigree 1358

text: GM12711 female unaffected Ceph/utah pedigree 1358 sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Tourette syndrome

text: 46 YR

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Tourette syndrome

text: ND23189 male affected Tourette syndrome sample

characteristic: title


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son

text: UTAH/MORMON

text: son

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Ceph/utah pedigree 1358

text: GM12712 male unaffected Ceph/utah pedigree 1358 sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: 43 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND23190 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: Son

text: UTAH/MORMON

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 1358

characteristic: tag

text: GM12713 male unaffected Ceph/utah pedigree 1358 sample


text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 14 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: ND23191 male affected Tourette syndrome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Daughter

characteristic: description

text: UTAH/MORMON

characteristic: ethnicity

text: daughter

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Ceph/utah pedigree 1358

text: GM12714 female unaffected Ceph/utah pedigree 1358 sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Tourette syndrome

text: 52 YR

text: B-Lymphocyte

text: NINDS Repository

text: Italian

text: father

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Tourette syndrome

text: ND23192 male affected Tourette syndrome sample

characteristic: title


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

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

characteristic: sex

text: Ceph/utah pedigree 1358

text: GM12715 female unaffected Ceph/utah pedigree 1358 sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: 51 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Greek

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND23193 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: Coriell plate

characteristic: HapMap sample ID

text: Coriell

characteristic: INSDC secondary accession

text: live

text: Generic

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

characteristic: Population Description

characteristic: SRA accession

text: EUR

characteristic: Super Population Code

text: European

characteristic: Super Population Description

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

characteristic: culture collection

text: Paternal Grandfather;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

text: paternal grandfather

text: Homo sapiens

text: CEU

characteristic: population

text: Caucasian

text: male

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

characteristic: tag

text: Coriell GM12716


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

text: Tourette syndrome

text: 13 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Tourette syndrome

text: ND23194 male affected Tourette syndrome sample

characteristic: title


characteristic: Coriell plate

characteristic: DNA id

characteristic: HapMap sample ID

text: Coriell

characteristic: INSDC last update

characteristic: INSDC secondary accession

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

characteristic: Population Description

characteristic: SRA accession

text: EUR

characteristic: Super Population Code

text: European

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Paternal Grandmother;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.

characteristic: description

text: UTAH/MORMON

characteristic: ethnicity

text: paternal grandmother

text: Homo sapiens

text: CEU

text: Caucasian

text: female

text: Coriell GM12717


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

text: Tourette syndrome

text: 18 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Tourette syndrome

characteristic: tag

text: ND23195 male affected Tourette syndrome sample


characteristic: Coriell plate

characteristic: DNA id

characteristic: HapMap sample ID

text: Coriell

characteristic: INSDC last update

characteristic: INSDC secondary accession

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: EUR

text: European

characteristic: Super Population Description

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: culture collection

text: Maternal Grandmother

text: UTAH/MORMON

text: maternal grandmother

text: Homo sapiens

text: CEU

characteristic: population

text: Caucasian

characteristic: race

text: female

characteristic: sex

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

text: Coriell GM12718

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

text: Epilepsy

text: 34 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: Female

text: Epilepsy

text: ND23198 female affected Epilepsy sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son

characteristic: description

text: UTAH/MORMON

characteristic: ethnicity

characteristic: family id

text: son

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Ceph/utah pedigree 1358

characteristic: tag

text: GM12719 male unaffected Ceph/utah pedigree 1358 sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: 52 YR

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Population/convenience control

text: ND23215 male unaffected Population/convenience control sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Lactic acidosis

text: 4 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Ashkenazi;failure to thrive;lactic acidosis;renal tubular acidosis;pyloric stenosis;hypotonia with episodes of hypertonic posturing;elevated blood lactates;normal ophthalmological exam

text: ASHKENAZI

text: Homo sapiens

text: Caucasian

text: Male

text: Lactic acidosis

text: Congenital infantile

text: GM12720 male affected Lactic acidosis sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Tourette syndrome

text: 46 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND23217 male affected Tourette syndrome sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 9 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Intrauterine 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 GM12929 Fibr

characteristic: description

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

text: Derivative chromosome

text: GM12721 female unaffected Derivative chromosome sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Tourette syndrome

text: 13 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Tourette syndrome

characteristic: tag

text: ND23218 male affected Tourette syndrome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 2 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Global develop delay;recurrent fevers & infections;hght (50-75th %ile);wght (25th %ile);& head circumf (50-75th %ile);mild trigonoceph;intercanthal;interpupillary;& outercanth distances between 3rd & 10th %ile;de novo del

text: 46;XY;del(9)(9pter>p21::p12>qter) 25 /48;XY;+9;del(9)(9pter>p21::p12>qter);+18 16 /47;XY;del(9)(9pter>p21::p12>qter);+18 9

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Chromosome deletion

text: GM12722 male unaffected Chromosome deletion sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

text: 29 YR

text: B-Lymphocyte

text: NINDS Repository

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: ND23223 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: DNA id

text: Coriell

characteristic: INSDC secondary accession

text: live

text: Generic

characteristic: SRA accession

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

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

text: UTAH/MORMON

characteristic: ethnicity

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 1444

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

text: GM12739 male unaffected Ceph/utah pedigree 1444 sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Progressive supranuclear palsy

text: 66 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Progressive supranuclear palsy

text: ND23225 male affected Progressive supranuclear palsy sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

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.

characteristic: description

text: UTAH/MORMON

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Cytochrome p450, subfamily iic, polypeptide 19

characteristic: tag

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

text: Ceph/utah pedigree 1444

text: GM12740 female unaffected International hapmap project - ceph (plate i) utah residents with ancestry from northern and western europe sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

text: 63 YR

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Population/convenience control

text: ND23226 female unaffected Population/convenience control sample

characteristic: title


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Daughter

text: UTAH/MORMON

characteristic: ethnicity

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/utah pedigree 1444

text: GM12741 female unaffected Ceph/utah pedigree 1444 sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Epilepsy

text: 15 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: sibling

text: Homo sapiens

text: African American

text: Female

text: Epilepsy

text: ND23230 female affected Epilepsy sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son

characteristic: description

text: UTAH/MORMON

characteristic: family id

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 1444

text: GM12742 male unaffected Ceph/utah pedigree 1444 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Epilepsy

text: 4 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: More than one race

characteristic: race

text: Male

text: Epilepsy

characteristic: tag

text: ND23231 male affected Epilepsy sample


text: Coriell

characteristic: INSDC first public

text: live

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

characteristic: sex

text: Ceph/utah pedigree 1444

text: GM12743 female unaffected Ceph/utah pedigree 1444 sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 31 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: White/Caucasian|Native American

characteristic: ethnicity

text: parent

text: Homo sapiens

text: More than one race

text: Female

text: ND23232 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual 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: Daughter

text: UTAH/MORMON

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/utah pedigree 1444

text: GM12744 female unaffected Ceph/utah pedigree 1444 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 27 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: parent

text: Homo sapiens

text: Caucasian

text: Male

text: ND23233 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Daughter

characteristic: description

text: UTAH/MORMON

characteristic: family id

text: daughter

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Ceph/utah pedigree 1444

text: GM12745 female unaffected Ceph/utah pedigree 1444 sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

text: Parkinson disease

text: 56 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Asian

characteristic: race

text: Male

text: Parkinson disease

characteristic: tag

text: ND23234 male affected Parkinson disease sample


text: Coriell

text: live

text: Generic

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

text: Male

characteristic: sex

text: Ceph/utah pedigree 1444

text: GM12746 male unaffected Ceph/utah pedigree 1444 sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Parkinson disease

text: 58 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Asian

text: Female

text: Parkinson disease

text: ND23235 female affected Parkinson disease sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son

text: UTAH/MORMON

characteristic: ethnicity

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 1444

text: GM12747 male unaffected Ceph/utah pedigree 1444 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 44 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND23241 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: Coriell plate

characteristic: HapMap sample ID

text: Coriell

characteristic: INSDC first public

characteristic: INSDC secondary accession

text: live

text: Generic

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

characteristic: Population Description

characteristic: SRA accession

text: EUR

characteristic: Super Population Code

text: European

characteristic: Super Population Description

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: culture collection

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

characteristic: description

text: UTAH/MORMON

characteristic: family id

text: paternal grandfather

text: Homo sapiens

characteristic: organism

text: CEU

characteristic: population

text: Caucasian

text: male

text: Ceph/utah pedigree 1444

text: Coriell GM12748


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 41 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

characteristic: tag

text: ND23242 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: Coriell plate

characteristic: DNA id

characteristic: HapMap sample ID

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC secondary accession

text: live

text: Generic

characteristic: Population Description

characteristic: SRA accession

text: EUR

characteristic: Super Population Code

text: European

characteristic: Super Population Description

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Paternal Grandmother. This cell line may be monoclonal as indicated by the very high proportion of IgL lambda (97%) compared to total lgL expression determined by cDNA microarray (see PMID: 14583597)

text: UTAH/MORMON

characteristic: ethnicity

text: paternal grandmother

text: Homo sapiens

text: CEU

text: Caucasian

text: female

text: Ceph/utah pedigree 1444

text: Coriell GM12749


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Tourette syndrome

text: 17 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Tourette syndrome

text: ND23243 male affected Tourette syndrome sample


characteristic: Coriell plate

characteristic: DNA id

characteristic: HapMap sample ID

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC secondary accession

text: live

text: Generic

text: EUR

text: European

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: culture collection

text: Maternal Grandfather

characteristic: description

text: UTAH/MORMON

text: maternal grandfather

text: Homo sapiens

text: CEU

characteristic: population

text: Caucasian

characteristic: race

text: male

characteristic: sex

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

characteristic: tag

text: Coriell GM12750

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Epilepsy

text: 6 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy

text: ND23244 male affected Epilepsy sample


characteristic: Coriell plate

characteristic: DNA id

characteristic: HapMap sample ID

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

characteristic: Population Description

characteristic: SRA accession

text: EUR

characteristic: Super Population Code

text: European

characteristic: Super Population Description

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Maternal Grandmother;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

characteristic: family id

text: maternal grandmother

text: Homo sapiens

characteristic: organism

text: CEU

text: Caucasian

text: female

text: Coriell GM12751


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Epilepsy

text: 8 YR

text: B-Lymphocyte

text: NINDS Repository

text: sibling

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Epilepsy

characteristic: tag

text: ND23245 female affected Epilepsy sample

characteristic: title


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC secondary accession

text: live

text: Generic

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Father;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.

characteristic: description

text: UTAH/MORMON

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 1447

text: Cytochrome p450, subfamily iic, polypeptide 19

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

text: GM12752 male unaffected International hapmap project - ceph (plate i) utah residents with ancestry from northern and western europe sample


text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 45 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: family id

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Tourette syndrome

text: ND23249 female affected Tourette syndrome sample