characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: SRA accession

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.

text: UTAH/MORMON

characteristic: ethnicity

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/utah pedigree 1447

text: GM12753 female unaffected International hapmap project - ceph (plate i) utah residents with ancestry from northern and western europe sample


status: PUBLIC

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: 45 YR

tag: attribute

characteristic: age

characteristic: cell line

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

characteristic: sex

characteristic: tag

text: ND23251 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: DNA id

characteristic: External 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

characteristic: description

text: UTAH/MORMON

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/utah pedigree 1447

text: GM12754 female unaffected Ceph/utah pedigree 1447 sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

text: Tourette syndrome

text: 16 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND23252 male affected Tourette syndrome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son

text: UTAH/MORMON

characteristic: ethnicity

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 1447

text: GM12755 male unaffected Ceph/utah pedigree 1447 sample


text: Coriell

text: live

text: Generic

text: 57 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Honduras

characteristic: family id

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: ND23253 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son

text: UTAH/MORMON

text: son

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Ceph/utah pedigree 1447

characteristic: tag

text: GM12756 male unaffected Ceph/utah pedigree 1447 sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 31 YR

text: B-Lymphocyte

text: NINDS Repository

text: Honduras

text: nephew

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: ND23254 male unaffected Population/convenience control sample

characteristic: title


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Daughter

characteristic: description

text: UTAH/MORMON

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/utah pedigree 1447

text: GM12757 female unaffected Ceph/utah pedigree 1447 sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 59 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND23261 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: Daughter

text: UTAH/MORMON

characteristic: ethnicity

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/utah pedigree 1447

text: GM12758 female unaffected Ceph/utah pedigree 1447 sample


text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 17 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Tourette syndrome

text: ND23262 female affected Tourette syndrome sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

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

characteristic: sex

text: Ceph/utah pedigree 1447

characteristic: tag

text: GM12759 female unaffected Ceph/utah pedigree 1447 sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: 46 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND23263 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 first public

characteristic: INSDC secondary accession

text: live

text: Generic

characteristic: NCBI submission model

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

characteristic: Population Description

characteristic: SRA accession

text: EUR

characteristic: Super Population Code

text: European

characteristic: Super Population Description

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: culture collection

text: Paternal Grandfather

characteristic: description

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

text: Coriell GM12760


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: Tourette syndrome

text: 16 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Tourette syndrome

characteristic: tag

text: ND23264 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

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: Population Description

characteristic: SRA accession

text: EUR

characteristic: Super Population Code

text: European

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Paternal 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

text: paternal grandmother

text: Homo sapiens

text: CEU

text: Caucasian

text: female

text: Coriell GM12761

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: Parkinson disease

text: 63 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Parkinson disease

text: ND23273 male affected Parkinson disease 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

characteristic: Super Population Description

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: culture collection

text: Maternal Grandfather

characteristic: description

text: UTAH/MORMON

text: maternal grandfather

text: Homo sapiens

text: CEU

characteristic: population

text: Caucasian

characteristic: race

text: male

characteristic: sex

characteristic: tag

text: Coriell GM12762


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: 44 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: ND23282 male 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

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

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 GM12763


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: 7 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

characteristic: tag

text: ND23283 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

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: Son

characteristic: description

text: UTAH/MORMON

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 1447

text: GM12764 male unaffected Ceph/utah pedigree 1447 sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 43 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: ND23284 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

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 1447

text: GM12765 male unaffected Ceph/utah pedigree 1447 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Tourette syndrome

text: 43 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Tourette syndrome

text: ND23285 female affected Tourette syndrome sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC secondary accession

text: live

text: Generic

characteristic: SRA accession

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Father

text: UTAH/MORMON

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

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

characteristic: tag

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

text: Ceph/utah pedigree 1451

text: GM12766 male unaffected Ceph/utah pedigree 1451 sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 37 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND23286 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Mother

characteristic: description

text: UTAH/MORMON

characteristic: family id

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Ceph/utah pedigree 1451

text: GM12767 female unaffected Ceph/utah pedigree 1451 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Tourette syndrome

text: 10 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Tourette syndrome

text: ND23287 male affected Tourette syndrome sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son

text: UTAH/MORMON

characteristic: ethnicity

text: son

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Ceph/utah pedigree 1451

text: GM12768 male unaffected Ceph/utah pedigree 1451 sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Tourette syndrome

text: 26 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Tourette syndrome

characteristic: tag

text: ND23288 female affected Tourette syndrome sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: B-Lymphocyte

characteristic: cell type

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 1451

text: GM12769 female unaffected Ceph/utah pedigree 1451 sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Tourette syndrome

text: 7 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND23289 male affected Tourette syndrome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Daughter

characteristic: description

text: UTAH/MORMON

characteristic: family id

text: daughter

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Ceph/utah pedigree 1451

text: GM12770 female unaffected Ceph/utah pedigree 1451 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: Tourette syndrome

text: 27 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Other

characteristic: race

text: Male

text: Tourette syndrome

text: ND23297 male affected Tourette syndrome sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: cell line

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

characteristic: sex

text: Ceph/utah pedigree 1451

text: GM12771 male unaffected Ceph/utah pedigree 1451 sample


text: Coriell

text: live

text: Generic

text: 52 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: father

text: Homo sapiens

text: More than one race

text: Male

characteristic: tag

text: ND23298 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC last update

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 1451

text: GM12772 female unaffected Ceph/utah pedigree 1451 sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 51 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: mother

text: Homo sapiens

text: More than one race

text: Female

text: ND23299 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual 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

characteristic: description

text: UTAH/MORMON

text: daughter

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Ceph/utah pedigree 1451

text: GM12773 female unaffected Ceph/utah pedigree 1451 sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Tourette syndrome

text: 15 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Tourette syndrome

text: ND23301 male affected Tourette syndrome sample


text: Coriell

text: live

text: Generic

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Son

text: UTAH/MORMON

characteristic: ethnicity

text: son

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Ceph/utah pedigree 1451

text: GM12774 male unaffected Ceph/utah pedigree 1451 sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 46 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND23302 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: Coriell plate

characteristic: DNA id

characteristic: HapMap sample ID

text: Coriell

characteristic: INSDC secondary accession

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

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

characteristic: Population Description

characteristic: SRA accession

text: EUR

characteristic: Super Population Code

text: European

characteristic: Super Population Description

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: culture collection

text: Paternal Grandfather

text: UTAH/MORMON

text: paternal grandfather

text: Homo sapiens

text: CEU

characteristic: population

text: Caucasian

text: male

text: Ceph/utah pedigree 1451

text: Coriell GM12775

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: 50 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: BORN IN CANADA

characteristic: ethnicity

characteristic: family id

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: ND23303 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 last update

characteristic: INSDC secondary accession

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: Population Description

characteristic: SRA accession

text: EUR

characteristic: Super Population Code

text: European

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Paternal Grandmother

characteristic: description

text: UTAH/MORMON

text: paternal grandmother

text: Homo sapiens

text: CEU

text: Caucasian

text: female

text: Ceph/utah pedigree 1451

characteristic: tag

text: Coriell GM12776


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: Parkinson disease

text: 67 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Parkinson disease

text: ND23313 female affected Parkinson disease sample

characteristic: title


characteristic: Coriell plate

characteristic: DNA id

characteristic: External Id

characteristic: HapMap sample ID

text: Coriell

characteristic: INSDC last update

characteristic: INSDC secondary accession

text: live

text: Generic

text: EUR

text: European

characteristic: Super Population Description

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: culture collection

text: Maternal Grandfather

text: UTAH/MORMON

characteristic: ethnicity

text: maternal grandfather

text: Homo sapiens

characteristic: organism

text: CEU

characteristic: population

text: Caucasian

characteristic: race

text: male

characteristic: sex

text: Ceph/utah pedigree 1451

text: Coriell GM12777


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Parkinsonism

text: 74 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: OTHER

characteristic: tag

text: Parkinsonism

text: ND23314 female affected Parkinsonism sample


characteristic: Coriell plate

characteristic: DNA id

characteristic: External Id

characteristic: HapMap sample ID

text: Coriell

characteristic: INSDC last update

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

characteristic: collection

text: Maternal Grandmother

characteristic: description

text: UTAH/MORMON

characteristic: family id

text: maternal grandmother

text: Homo sapiens

text: CEU

text: Caucasian

text: female

text: Ceph/utah pedigree 1451

text: Coriell GM12778

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Tourette syndrome

text: 21 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Asian

characteristic: race

text: Male

characteristic: sex

text: Tourette syndrome

text: ND23318 male affected Tourette syndrome sample


characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: CF

text: 11 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;compound heterozygote;GLY551ASP (G551D)/ARG347PRO (R347P);analysis of a DNA variant in a noncoding region of the CFTR gene (polypyrimidine tract in intron 8) showed this donor has alleles 7T/7T

text: CFTR

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

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

characteristic: tag

text: CF

text: Cystic fibrosis

text: Cystic fibrosis transmembrane conductance regulator

text: CFTR

text: GM12785 male affected CF sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Epilepsy

text: 33 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: proband

text: Homo sapiens

text: Other

text: Male

text: Epilepsy

text: ND23319 male affected Epilepsy sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 2 WK

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Small for gestational age;macrocephaly;hypertelorism;bilat cleft lip & palate;post rotated ears;micrognathia;camptodactyly;valgus deform of rt foot;duodenal atresia;secund atrial septal def;Dandy-Walker malform;hydronephrosis

characteristic: description

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Chromosome deletion

text: GM12787 female unaffected Chromosome deletion sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 62 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: parent

text: Homo sapiens

characteristic: organism

text: Hispanic/Latino

characteristic: race

text: Female

characteristic: sex

text: ND23320 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Fanconi anemia, complementation group c

text: 19 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;complementation group C;pancytopenia;thrombocytopenia;short stature;congestive heart failure;ptosis;nephroptotic kidney;chromosome breakage induced by DEB and MMC;on oxymetholone treatment;donor subject has one allele with a 1-bp deletion at nucleotide 322 in exon 1 of the FANCC gene 322delG which results in a frameshift;2 affected sisters.

text: FANCC

characteristic: gene

characteristic: mutation

text: 1-BP DEL

text: Homo sapiens

text: Caucasian

text: Female

text: Fanconi anemia, complementation group c

text: FANCC

text: GM12794 female affected Fanconi anemia, complementation group c sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 78 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: parent

text: Homo sapiens

text: Hispanic/Latino

text: Male

characteristic: tag

text: ND23321 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC secondary accession

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

characteristic: SRA accession

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Father

characteristic: description

text: UTAH/MORMON

characteristic: ethnicity

text: father

text: Homo sapiens

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 1454

text: GM12801 male unaffected International hapmap project - ceph (plate i) utah residents with ancestry from northern and western europe sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Parkinson disease

text: 72 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: sister

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Parkinson disease

text: ND23327 female affected Parkinson disease sample


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: Mother

text: UTAH/MORMON

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: Ceph/utah pedigree 1454

text: GM12802 female unaffected International hapmap project - ceph (plate i) utah residents with ancestry from northern and western europe sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Tourette syndrome

text: 9 YR

text: B-Lymphocyte

text: NINDS Repository

text: Ashkenazi Jewish;palestinian (maternal side)

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND23330 male affected Tourette syndrome sample

characteristic: title


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Daughter

characteristic: description

text: UTAH/MORMON

characteristic: ethnicity

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/utah pedigree 1454

text: GM12803 female unaffected Ceph/utah pedigree 1454 sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 45 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Ashkenazi Jewish

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND23331 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

text: UTAH/MORMON

text: daughter

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Ceph/utah pedigree 1454

text: GM12804 female unaffected Ceph/utah pedigree 1454 sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 41 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Ashkenazi Jewish;Palestinian

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND23332 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son

text: UTAH/MORMON

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 1454

text: GM12805 male unaffected Ceph/utah pedigree 1454 sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Tourette syndrome

text: 20 YR

text: B-Lymphocyte

text: NINDS Repository

text: partly French Canadian (paternal side)

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND23333 male affected Tourette syndrome 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

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 1454

text: GM12806 male unaffected Ceph/utah pedigree 1454 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 51 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: part French-Canadian

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND23334 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Daughter

text: UTAH/MORMON

text: daughter

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Ceph/utah pedigree 1454

text: GM12807 female unaffected Ceph/utah pedigree 1454 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 53 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND23335 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 model

characteristic: NCBI submission package

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Daughter

text: UTAH/MORMON

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/utah pedigree 1454

text: GM12808 female unaffected Ceph/utah pedigree 1454 sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 64 YR

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: ND23353 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: Daughter

characteristic: description

text: UTAH/MORMON

characteristic: ethnicity

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/utah pedigree 1454

text: GM12809 female unaffected Ceph/utah pedigree 1454 sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 28 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: ND23354 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

characteristic: organism

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Ceph/utah pedigree 1454

text: GM12810 male unaffected Ceph/utah pedigree 1454 sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 52 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: wife

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

characteristic: tag

text: ND23355 female unaffected Population/convenience control sample


text: Coriell

characteristic: INSDC last update

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

text: Male

text: Ceph/utah pedigree 1454

text: GM12811 male unaffected Ceph/utah pedigree 1454 sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 30 YR

text: B-Lymphocyte

text: NINDS Repository

text: son

text: Homo sapiens

text: More than one race

text: Male

text: ND23356 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: Coriell plate

characteristic: DNA id

characteristic: HapMap sample ID

text: Coriell

characteristic: INSDC 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

characteristic: description

text: UTAH/MORMON

characteristic: ethnicity

text: paternal grandfather

text: Homo sapiens

text: CEU

characteristic: population

text: Caucasian

text: male

text: Ceph/utah pedigree 1454

text: Coriell GM12812


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 61 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Ashkenazi Jewish

characteristic: family id

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

characteristic: sex

characteristic: tag

text: ND23357 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: Coriell plate

characteristic: DNA id

characteristic: HapMap sample ID

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC secondary accession

text: live

text: Generic

characteristic: NCBI submission package

characteristic: Population Description

characteristic: SRA accession

text: EUR

characteristic: Super Population Code

text: European

characteristic: Super Population Description

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: culture collection

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

text: UTAH/MORMON

text: paternal grandmother

text: Homo sapiens

text: CEU

text: Caucasian

text: female

text: Ceph/utah pedigree 1454

text: Coriell GM12813

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 49 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

characteristic: family id

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Tourette syndrome

text: ND23358 male unaffected 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: NCBI submission package

text: EUR

text: European

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Maternal Grandfather

characteristic: description

text: UTAH/MORMON

characteristic: ethnicity

text: maternal grandfather

text: Homo sapiens

text: CEU

characteristic: population

text: Caucasian

characteristic: race

text: male

characteristic: sex

text: Ceph/utah pedigree 1454

characteristic: tag

text: Coriell GM12814


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 49 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: Tourette syndrome

text: ND23359 female unaffected Tourette syndrome sample

characteristic: title


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

text: NIGMS Human Genetic Cell Repository

characteristic: collection

characteristic: culture collection

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: family id

text: maternal grandmother

text: Homo sapiens

characteristic: organism

text: CEU

text: Caucasian

text: female

text: Ceph/utah pedigree 1454

text: Coriell GM12815


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: 13 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Tourette syndrome

characteristic: tag

text: ND23360 male affected Tourette syndrome sample


characteristic: DNA id

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: Son

characteristic: description

text: UTAH/MORMON

characteristic: ethnicity

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 1454

text: GM12816 male unaffected Ceph/utah pedigree 1454 sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 37 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Ashkenazi Jewish;MOM FROM LITHUANIA;DAD POLAND

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Tourette syndrome

text: ND23371 male affected Tourette syndrome sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Father

text: UTAH/MORMON

text: father

text: Homo sapiens

text: Caucasian

text: Male

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

text: Ceph/utah pedigree 1456

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

text: GM12817 male unaffected Ceph/utah pedigree 1456 sample


text: Coriell

text: live

text: Generic

text: 64 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: NON-ASHKENAZI JEWISH

text: father

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

characteristic: tag

text: ND23374 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Mother

text: UTAH/MORMON

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/utah pedigree 1456

text: GM12818 female unaffected Ceph/utah pedigree 1456 sample


text: Coriell

text: live

text: Generic

text: 63 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Ashkenazi Jewish

characteristic: ethnicity

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND23375 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son

characteristic: description

text: UTAH/MORMON

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 1456

text: GM12819 male unaffected Ceph/utah pedigree 1456 sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Parkinson disease

text: 58 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: first cousin

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Parkinson disease

text: ND23379 male affected Parkinson disease sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son

text: UTAH/MORMON

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 1456

text: GM12820 male unaffected Ceph/utah pedigree 1456 sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 51 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Parkinson disease

characteristic: tag

text: ND23380 female affected Parkinson disease 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: Daughter

text: UTAH/MORMON

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/utah pedigree 1456

text: GM12821 female unaffected Ceph/utah pedigree 1456 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 58 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Parkinson disease

text: ND23381 female affected Parkinson disease sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son

characteristic: description

text: UTAH/MORMON

characteristic: ethnicity

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 1456

text: GM12822 male unaffected Ceph/utah pedigree 1456 sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Parkinson disease

text: 86 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Parkinson disease

text: ND23382 male affected Parkinson disease sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son

text: UTAH/MORMON

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 1456

text: GM12823 male unaffected Ceph/utah pedigree 1456 sample


text: Coriell

text: live

text: Generic

text: 54 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

characteristic: tag

text: ND23386 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

characteristic: cell line

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 1456

text: GM12824 female unaffected Ceph/utah pedigree 1456 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 29 YR

text: B-Lymphocyte

text: NINDS Repository

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: ND23387 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son

characteristic: description

text: UTAH/MORMON

characteristic: ethnicity

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 1456

text: GM12825 male unaffected Ceph/utah pedigree 1456 sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 32 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: daughter

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND23388 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 model

characteristic: NCBI submission package

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Daughter

text: UTAH/MORMON

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/utah pedigree 1456

text: GM12826 female unaffected Ceph/utah pedigree 1456 sample


text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 8 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: part French Canadian (paternal grandfather)

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Tourette syndrome

characteristic: tag

text: ND23405 male affected Tourette syndrome sample


characteristic: Coriell plate

characteristic: HapMap sample ID

text: Coriell

characteristic: INSDC center name

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

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

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

text: Coriell GM12827


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: 45 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: father is french canadian

characteristic: ethnicity

characteristic: family id

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: ND23406 male 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

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Paternal Grandmother

characteristic: description

text: UTAH/MORMON

text: paternal grandmother

text: Homo sapiens

text: CEU

text: Caucasian

characteristic: race

text: female

characteristic: sex

characteristic: tag

text: Coriell GM12828


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

characteristic: collection

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND23407 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: Coriell plate

characteristic: DNA id

characteristic: HapMap sample ID

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC secondary accession

text: live

text: Generic

text: EUR

text: European

characteristic: Super Population Description

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: culture collection

text: Maternal Grandfather

text: UTAH/MORMON

characteristic: ethnicity

characteristic: family id

text: maternal grandfather

text: Homo sapiens

characteristic: organism

text: CEU

characteristic: population

text: Caucasian

text: male

text: Coriell GM12829

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: 15 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: part french canadian (paternal grandfather)

text: brother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

characteristic: tag

text: ND23408 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: Coriell plate

characteristic: DNA id

characteristic: HapMap sample ID

text: Coriell

characteristic: INSDC 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: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Maternal Grandmother

characteristic: description

text: UTAH/MORMON

text: maternal grandmother

text: Homo sapiens

text: CEU

text: Caucasian

text: female

text: Coriell GM12830


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: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Tourette syndrome

text: ND23423 male affected Tourette syndrome sample

characteristic: title


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Father

text: UTAH/MORMON

characteristic: ethnicity

text: father

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Ceph/utah pedigree 1458

characteristic: tag

text: GM12831 male unaffected Ceph/utah pedigree 1458 sample


text: Coriell

text: live

text: Generic

text: 39 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND23424 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

characteristic: INSDC secondary accession

text: live

characteristic: INSDC status

text: Generic

characteristic: SRA accession

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Mother

characteristic: description

text: UTAH/MORMON

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/utah pedigree 1458

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

text: GM12832 female unaffected Ceph/utah pedigree 1458 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 39 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: this participant was ADOPTED

characteristic: family id

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND23425 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Daughter

text: UTAH/MORMON

characteristic: ethnicity

text: daughter

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Ceph/utah pedigree 1458

text: GM12833 female unaffected Ceph/utah pedigree 1458 sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 31 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND23432 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 model

characteristic: NCBI submission package

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Daughter

characteristic: description

text: UTAH/MORMON

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/utah pedigree 1458

text: GM12834 female unaffected Ceph/utah pedigree 1458 sample


text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 12 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Tourette syndrome

text: ND23433 male affected Tourette syndrome sample

characteristic: title


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son

text: UTAH/MORMON

characteristic: ethnicity

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 1458

text: GM12835 male unaffected Ceph/utah pedigree 1458 sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 76 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: ND23434 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Son

text: UTAH/MORMON

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 1458

characteristic: tag

text: GM12836 male unaffected Ceph/utah pedigree 1458 sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 76 YR

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND23435 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Daughter

characteristic: description

text: UTAH/MORMON

characteristic: family id

text: daughter

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Ceph/utah pedigree 1458

text: GM12837 female unaffected Ceph/utah pedigree 1458 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Tourette syndrome

text: 8 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Other

text: Male

text: Tourette syndrome

text: ND23439 male affected Tourette syndrome sample

characteristic: title


characteristic: DNA id

characteristic: External 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 1458

text: GM12838 male unaffected Ceph/utah pedigree 1458 sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 42 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Other

characteristic: race

text: Female

characteristic: sex

text: ND23441 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

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 1458

characteristic: tag

text: GM12839 male unaffected Ceph/utah pedigree 1458 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Tourette syndrome

text: 17 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Other

text: Male

text: Tourette syndrome

text: ND23442 male affected Tourette syndrome sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Paternal Grandfather Same as 1459-11

characteristic: description

text: UTAH/MORMON

text: paternal grandfather

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Ceph/utah pedigree 1458

text: GM12840 male unaffected Ceph/utah pedigree 1458 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 46 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Mexican

text: wife

text: Homo sapiens

text: Other

text: Female

text: Control

text: Population/convenience control

text: ND23451 female unaffected Control sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Paternal Grandmother Same as 1459-12

text: UTAH/MORMON

characteristic: ethnicity

text: paternal grandmother

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/utah pedigree 1458

text: Snp500 panel

text: GM12841 female unaffected Ceph/utah pedigree 1458 sample


text: Coriell

text: live

text: Generic

text: Epilepsy

text: 18 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Epilepsy

text: ND23460 female affected Epilepsy sample


characteristic: Coriell plate

characteristic: DNA id

characteristic: HapMap sample ID

text: Coriell

characteristic: INSDC secondary accession

text: live

characteristic: INSDC status

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: Maternal Grandfather

text: UTAH/MORMON

text: maternal grandfather

text: Homo sapiens

text: CEU

characteristic: population

text: Caucasian

text: male

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

text: Coriell GM12842


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 49 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: parent

text: Homo sapiens

characteristic: organism

text: More than one race

text: Male

characteristic: tag

text: ND23462 male 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 secondary accession

text: live

characteristic: INSDC status

text: Generic

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: Maternal Grandmother

characteristic: description

text: UTAH/MORMON

characteristic: ethnicity

text: maternal grandmother

text: Homo sapiens

text: CEU

text: Caucasian

characteristic: race

text: female

characteristic: sex

text: Coriell GM12843


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 43 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Middle Eastern|Ashkenazi Jewish or Eastern Europea

characteristic: family id

text: parent

text: Homo sapiens

text: Caucasian

text: Female

text: ND23463 female 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: 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 1458

characteristic: tag

text: GM12844 male unaffected Ceph/utah pedigree 1458 sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 52 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: parent

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: ND23464 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

characteristic: description

text: UTAH/MORMON

characteristic: ethnicity

text: son

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Ceph/utah pedigree 1444

text: GM12847 male unaffected Ceph/utah pedigree 1444 sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

text: Epilepsy

text: 14 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy

text: ND23465 male affected Epilepsy sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: B-Lymphocyte

characteristic: cell type

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 1451

text: GM12848 female unaffected Ceph/utah pedigree 1451 sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 73 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND23473 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: Father

text: UTAH/MORMON

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Ceph/utah pedigree 1400

characteristic: tag

text: GM12852 male unaffected Ceph/utah pedigree 1400 sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 48 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: ND23474 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Mother

characteristic: description

text: UTAH/MORMON

characteristic: ethnicity

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Ceph/utah pedigree 1400

text: GM12853 female unaffected Ceph/utah pedigree 1400 sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 43 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: ND23475 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

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 1400

text: GM12854 male unaffected Ceph/utah pedigree 1400 sample


text: Coriell

text: live

text: Generic

text: 44 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: brother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: ND23476 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

text: NIGMS Human Genetic Cell Repository

text: Son

text: UTAH/MORMON

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 1400

characteristic: tag

text: GM12855 male unaffected Ceph/utah pedigree 1400 sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 38 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: ND23477 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son

characteristic: description

text: UTAH/MORMON

characteristic: ethnicity

text: son

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Ceph/utah pedigree 1400

text: GM12856 male unaffected Ceph/utah pedigree 1400 sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 35 YR

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: ND23478 male 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

characteristic: family id

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 1400

text: GM12857 male unaffected Ceph/utah pedigree 1400 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Progressive supranuclear palsy

text: 65 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Progressive supranuclear palsy

text: ND23480 male affected Progressive supranuclear palsy 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

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/utah pedigree 1400

characteristic: tag

text: GM12858 female unaffected Ceph/utah pedigree 1400 sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 63 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Population/convenience control

text: ND23481 female unaffected Population/convenience control sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Daughter

characteristic: description

text: UTAH/MORMON

characteristic: ethnicity

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Ceph/utah pedigree 1400

text: GM12859 female unaffected Ceph/utah pedigree 1400 sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 57 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: born in Argentina;Ashkenazi Jewish & Sephardic

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND23483 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Maternal Grandfather

text: UTAH/MORMON

characteristic: family id

text: maternal grandfather

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 1400

text: GM12860 male unaffected Ceph/utah pedigree 1400 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 48 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: French-Canadian

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND23484 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Maternal Grandmother

text: UTAH/MORMON

text: maternal grandmother

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/utah pedigree 1400

characteristic: tag

text: GM12861 female unaffected Ceph/utah pedigree 1400 sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Tourette syndrome

text: 13 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: French-Canadian

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Tourette syndrome

text: ND23485 male affected Tourette syndrome sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Paternal Grandfather

characteristic: description

text: UTAH/MORMON

characteristic: ethnicity

text: paternal grandfather

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Ceph/utah pedigree 1400

text: GM12862 male unaffected Ceph/utah pedigree 1400 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Epilepsy

text: 14 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

text: ND23488 female affected Epilepsy sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC secondary accession

text: live

text: Generic

characteristic: SRA accession

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Father

text: UTAH/MORMON

characteristic: family id

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 1459

text: Cytochrome p450, subfamily iic, polypeptide 19

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

text: GM12864 male unaffected International hapmap project - ceph (plate i) utah residents with ancestry from northern and western europe sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 62 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: parent

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

characteristic: tag

text: ND23489 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: cell line

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: 45;X 7 /46;XX 43

characteristic: karyotype

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Ceph/utah pedigree 1459

text: GM12865 female unaffected International hapmap project - ceph (plate i) utah residents with ancestry from northern and western europe sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Parkinson disease

text: 84 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Parkinson disease

text: ND23493 male affected Parkinson disease sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Son

text: UTAH/MORMON

characteristic: ethnicity

characteristic: family id

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 1459

text: GM12866 male unaffected Ceph/utah pedigree 1459 sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 86 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Parkinson disease

characteristic: tag

text: ND23494 male affected Parkinson disease sample

characteristic: title


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Daughter

characteristic: description

text: UTAH/MORMON

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/utah pedigree 1459

text: GM12867 female unaffected Ceph/utah pedigree 1459 sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: Parkinson disease

text: 70 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Parkinson disease

text: ND23498 male affected Parkinson disease sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Daughter

text: UTAH/MORMON

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Ceph/utah pedigree 1459

text: GM12868 female unaffected Ceph/utah pedigree 1459 sample


text: Coriell

text: live

text: Generic

text: 48 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND23502 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Daughter

text: UTAH/MORMON

characteristic: ethnicity

text: daughter

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Ceph/utah pedigree 1459

characteristic: tag

text: GM12869 female unaffected Ceph/utah pedigree 1459 sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Tourette syndrome

text: 8 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND23503 male affected Tourette syndrome sample


characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son

characteristic: description

text: UTAH/MORMON

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 1459

text: GM12870 male unaffected Ceph/utah pedigree 1459 sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 47 YR

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: ND23504 male 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

characteristic: sex

text: Ceph/utah pedigree 1459

text: GM12871 male unaffected Ceph/utah pedigree 1459 sample


text: Coriell

text: live

text: Generic

text: 39 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND23506 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: Coriell plate

characteristic: HapMap sample ID

text: Coriell

characteristic: INSDC last update

characteristic: INSDC secondary accession

text: live

text: Generic

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

characteristic: Population Description

characteristic: SRA accession

text: EUR

characteristic: Super Population Code

text: European

characteristic: Super Population Description

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: culture collection

text: Paternal Grandfather

text: UTAH/MORMON

characteristic: ethnicity

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 GM12872

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Tourette syndrome

text: 12 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: mother is caucasian and dad is mexican

text: proband

text: Homo sapiens

text: More than one race

characteristic: race

text: Male

characteristic: sex

text: Tourette syndrome

text: ND23507 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

text: Generic

characteristic: Population Description

characteristic: SRA accession

text: EUR

characteristic: Super Population Code

text: European

characteristic: Super Population Description

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Paternal Grandmother

characteristic: description

text: UTAH/MORMON

characteristic: family id

text: paternal grandmother

text: Homo sapiens

characteristic: organism

text: CEU

text: Caucasian

text: female

text: Coriell GM12873


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 53 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Orthodox Jewish

characteristic: ethnicity

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND23510 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 last update

characteristic: INSDC secondary accession

text: live

text: Generic

characteristic: Population Description

characteristic: SRA accession

text: EUR

text: European

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

characteristic: culture collection

text: Maternal Grandfather;Same as 1458-10;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: maternal grandfather

characteristic: karyotype

text: Homo sapiens

text: CEU

characteristic: population

text: Caucasian

characteristic: race

text: male

characteristic: sex

text: Coriell GM12874


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Tourette syndrome

text: 16 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Orthodox Jewish: 75% Ashkenazi;25% Sephardic

characteristic: ethnicity

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Tourette syndrome

text: ND23511 male affected Tourette syndrome sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

characteristic: INSDC secondary accession

text: live

text: Generic

characteristic: SRA accession

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Maternal Grandmother;Same as 1458-11;donor subject is heterozygous for an A>C change at nucleotide 1061 (1061A>C) in exon 7 of the CYP2C9 gene (CYP2C9*3) which results in a substitution of leucine for isoleucine at codon 359 Ile359Leu (I359L)

characteristic: description

text: UTAH/MORMON

text: maternal grandmother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: Ceph/utah pedigree 1459

text: Cytochrome p450, subfamily iic, polypeptide 19

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

text: Cytochrome p450

text: Polypeptide 9

text: Subfamily iic

text: GM12875 female unaffected Cytochrome p450 sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: Parkinson disease

text: 57 YR

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Parkinson disease

text: ND23517 male affected Parkinson disease sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son

text: UTAH/MORMON

characteristic: ethnicity

characteristic: family id

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 1459

text: GM12876 male unaffected Ceph/utah pedigree 1459 sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Epilepsy

text: 21 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Epilepsy

text: ND23519 female affected Epilepsy sample


characteristic: DNA id

text: Coriell

characteristic: INSDC secondary accession

text: live

text: Generic

characteristic: SRA accession

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Father

characteristic: description

text: UTAH/MORMON

text: father

text: Homo sapiens

text: Caucasian

text: Male

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

text: Ceph/utah pedigree 1463

text: GM12877 male unaffected Ceph/utah pedigree 1463 sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: 23 YR

text: B-Lymphocyte

text: NINDS Repository

text: unaffected spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Control

characteristic: tag

text: Population/convenience control

text: ND23520 male unaffected Control sample

characteristic: title