text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Progressive supranuclear palsy

text: 55 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Progressive supranuclear palsy

text: ND19388 female affected Progressive supranuclear palsy sample

characteristic: title


status: PUBLIC

characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 28 YR

tag: attribute

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically unaffected;mother and 4 sibs are affected;daughter of GM09627

characteristic: description

characteristic: family id

text: niece

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Neurofibromatosis type i

characteristic: tag

text: GM09617 female unaffected Neurofibromatosis type i sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 60 YR

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: ND19389 male unaffected Population/convenience control sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: 31 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;spouse of GM09617

text: in-law

text: Homo sapiens

text: Caucasian

text: Male

text: Neurofibromatosis type i

text: GM09618 male unaffected Neurofibromatosis type i sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

text: Progressive supranuclear palsy

text: 69 YR

text: B-Lymphocyte

text: NINDS Repository

text: Korean

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Asian

text: Female

text: Progressive supranuclear palsy

text: ND19393 female affected Progressive supranuclear palsy sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Neurofibromatosis type i

text: 26 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Multiple neurofibromas;multiple cafe au lait spots;pseudoarthrosis;large spinal tumor;pathologically verified;son of GM09616;mother is also affected

text: nephew

text: Homo sapiens

text: Caucasian

text: Male

text: Neurofibromatosis type i

text: GM09619 male affected Neurofibromatosis type i sample


text: Coriell

text: live

text: Generic

text: 69 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: korean

characteristic: family id

text: spouse

text: Homo sapiens

characteristic: organism

text: Asian

text: Male

text: Population/convenience control

text: ND19394 male unaffected Population/convenience control sample


text: Coriell

text: live

text: Generic

text: 39 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;grandmother;3 maternal aunts & 2 maternal uncles are affected

characteristic: description

text: niece

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Neurofibromatosis type i

characteristic: tag

text: GM09620 female unaffected Neurofibromatosis type i sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Tourette syndrome

text: 14 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND19395 male affected Tourette syndrome sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 8 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;son of GM09617

text: great nephew

text: Homo sapiens

text: Caucasian

text: Male

text: Neurofibromatosis type i

text: GM09621 male unaffected Neurofibromatosis type i sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 51 YR

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND19396 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 7 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;son of GM09617

text: great nephew

text: Homo sapiens

text: Caucasian

text: Male

text: Neurofibromatosis type i

text: GM09622 male unaffected Neurofibromatosis type i sample


text: Coriell

text: live

text: Generic

text: 45 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND19397 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 1 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: 46;XX;der(18)t(10;18)(18pter>18q22.2::10p15.2>10pter)pat.ish der(18)(10PTEL006+)

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Derivative chromosome

text: Translocated chromosome

text: GM09623 female unaffected Derivative chromosome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 13 YR

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

characteristic: tag

text: ND19398 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 67 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;2 affected sibs;father was affected

characteristic: description

text: maternal uncle

text: Homo sapiens

text: Caucasian

text: Male

text: Neurofibromatosis type i

text: GM09625 male unaffected Neurofibromatosis type i sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 11 YR

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: ND19399 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 62 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;spouse of GM09625

text: in-law

text: Homo sapiens

text: Caucasian

text: Female

text: Neurofibromatosis type i

text: GM09626 female unaffected Neurofibromatosis type i sample


text: Coriell

text: live

text: Generic

text: 8 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: ND19400 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: Neurofibromatosis type i

text: 52 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Multiple neurofibromas;optic glioma;mother;4 sibs;and 4 children are affected

text: sister

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Neurofibromatosis type i

text: GM09627 female affected Neurofibromatosis type i sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 72 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Parkinson disease

text: ND19401 male affected Parkinson disease sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Neurofibromatosis type i

text: 41 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Multiple neurofibromas;multiple cafe au lait spots;3 affected children

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Neurofibromatosis type i

characteristic: tag

text: GM09628 male affected Neurofibromatosis type i sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 44 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: ND19404 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 32 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;spouse of GM09628;1 affected child

characteristic: description

text: in-law

text: Homo sapiens

text: Caucasian

text: Female

text: Neurofibromatosis type i

text: Apparently healthy non-fetal tissue

text: GM09629 female unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Parkinson disease

text: 81 YR

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinson disease

text: ND19427 male affected Parkinson disease sample


text: Coriell

text: live

text: Generic

text: 32 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;son of GM09625

text: maternal cousin

text: Homo sapiens

text: Caucasian

text: Male

text: Neurofibromatosis type i

text: GM09630 male unaffected Neurofibromatosis type i sample

characteristic: title


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 82 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinson disease

text: ND19428 male affected Parkinson disease sample


text: Coriell

text: live

text: Generic

text: 29 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically unaffected;daughter of GM09625

characteristic: family id

text: maternal cousin

text: Homo sapiens

text: Caucasian

text: Female

text: Neurofibromatosis type i

text: GM09631 female unaffected Neurofibromatosis type i sample


text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 12 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Tourette syndrome

text: ND19430 male affected Tourette syndrome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 33 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: maternal cousin

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Neurofibromatosis type i

text: GM09632 female unaffected Neurofibromatosis type i sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 51 YR

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: ND19431 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Neurofibromatosis type i

text: 16 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Multiple cafe au lait spots;daughter of GM09627

text: niece

text: Homo sapiens

text: Caucasian

text: Female

text: Neurofibromatosis type i

text: GM09633 female affected Neurofibromatosis type i sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 44 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND19432 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Neurofibromatosis type i

text: 15 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Multiple cafe au lait spots;son of GM09627

characteristic: description

text: nephew

text: Homo sapiens

text: Caucasian

text: Male

text: Neurofibromatosis type i

text: GM09634 male affected Neurofibromatosis type i sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 14 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: ND19433 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 35 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: 5 fatty nodules reportedly lipomas;son of GM09616;mother and brother are affected

text: nephew

text: Homo sapiens

text: Caucasian

text: Male

text: Neurofibromatosis type i

text: GM09635 male unaffected Neurofibromatosis type i sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 83 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Irish

characteristic: ethnicity

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND19434 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 35 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;spouse of GM09635

characteristic: family id

text: in-law

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Neurofibromatosis type i

text: GM09636 female unaffected Neurofibromatosis type i sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 82 YR

text: B-Lymphocyte

text: NINDS Repository

text: Irish

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: ND19435 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Neurofibromatosis type i

text: 7 MO

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Multiple cafe au lait spots;son of GM09628 and GM09629;father and 2 halfbrothers are also affected

text: nephew

text: Homo sapiens

text: Caucasian

text: Male

text: Neurofibromatosis type i

characteristic: tag

text: GM09637 male affected Neurofibromatosis type i sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 43 YR

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: ND19446 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 29 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;daughter of GM09537;paternal grandmother was affected

characteristic: description

text: niece

text: Homo sapiens

text: Caucasian

text: Female

text: Neurofibromatosis type i

text: GM09638 female unaffected Neurofibromatosis type i sample

characteristic: title


text: Coriell

text: live

text: Generic

text: Progressive supranuclear palsy

text: 66 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Progressive supranuclear palsy

text: ND19449 male affected Progressive supranuclear palsy sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 25 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: niece

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Neurofibromatosis type i

text: GM09639 female unaffected Neurofibromatosis type i sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 75 YR

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Population/convenience control

text: ND19450 female unaffected Population/convenience control sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 17 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;daughter of GM09635;pat grandmother is affected

text: grandniece

text: Homo sapiens

text: Caucasian

text: Female

text: Neurofibromatosis type i

text: GM09640 female unaffected Neurofibromatosis type i sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Parkinson disease

text: 75 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Parkinson disease

characteristic: tag

text: ND19459 female affected Parkinson disease sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 10 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: grandniece

text: Homo sapiens

text: Caucasian

text: Female

text: Neurofibromatosis type i

text: GM09641 female unaffected Neurofibromatosis type i sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 38 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinson disease

text: ND19471 male affected Parkinson disease sample


text: Coriell

text: live

text: Generic

text: 7 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;son of GM09635;paternal grandmother is affected

characteristic: description

text: great nephew

text: Homo sapiens

text: Caucasian

text: Male

text: Neurofibromatosis type i

text: GM09642 male unaffected Neurofibromatosis type i sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 64 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND19472 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 17 FW

text: Amniotic fluid-derived cell line

text: NIGMS Human Genetic Cell Repository

text: Pericentric inversion;46;XY;inv(6)(pter >p21.3::q25>p21.3::q25>qter);balanced

text: 46;XY;inv(6)(pter>p21.3::q25>p21.3:: q25>qter)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Inverted chromosome

text: GM09643 male unaffected Inverted chromosome sample


text: Coriell

text: live

text: Generic

text: 63 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: ND19473 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: 54 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: No motor or vocal tics or obsessive-compulsive behavior but;a daughter shows some moderate tics & father had motor tics

text: maternal uncle

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: GTS

text: Gilles de la tourette syndrome

text: GM09644 male unaffected Gilles de la tourette syndrome sample


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: 39 YR

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: ND19474 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 25 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;diabetes;daughter of GM09646

text: maternal cousin

text: Homo sapiens

text: Caucasian

text: Female

text: GTS

text: Gilles de la tourette syndrome

text: GM09645 female unaffected Gilles de la tourette syndrome sample


text: Coriell

text: live

text: Generic

text: 34 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: ND19475 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 52 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Motor tics but no vocal tics or obsessive compulsive behavior;mother of GM09645

characteristic: description

text: maternal aunt

text: Homo sapiens

text: Caucasian

text: Female

text: GTS

text: Gilles de la tourette syndrome

text: GM09646 female unaffected Gilles de la tourette syndrome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 25 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinson disease

text: ND19476 male affected Parkinson disease sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 24 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Hispanic;spontan bullae since birth;some hemorrhagic with mult erosions at open sites;deform hands & feet;esophageal strictures;severe anemia;chronic constipation;prob recessive dystrophic Hallopeau-Siemens type;see GM09648 Fibr

text: HISPANIC

characteristic: ethnicity

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: GM09647 female affected Epidermolysis bullosa: dystrophic junctional or simplex types sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 71 YR

text: B-Lymphocyte

text: NINDS Repository

text: aunt

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: ND19477 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: 24 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Hispanic;spontan bullae since birth;some hemorrhagic with mult erosions at open sites;deform hands & feet;esophageal strictures;severe anemia;chronic constipation;prob recessive dystrophic Hallopeau-Siemens type;see GM09647 Lym

text: HISPANIC

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: GM09648 female affected Epidermolysis bullosa: dystrophic junctional or simplex types sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 64 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: PD

text: Parkinson disease

text: ND19508 female affected Parkinson disease sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 67 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically unaffected;spouse was unaffected maternal uncle of proband

characteristic: description

characteristic: family id

text: in-law

text: Homo sapiens

text: Caucasian

text: Female

text: Neurofibromatosis type i

text: Apparently healthy non-fetal tissue

text: GM09649 female unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

text: Generic

text: Progressive supranuclear palsy

text: 75 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Progressive supranuclear palsy

text: ND19510 male affected Progressive supranuclear palsy sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 49 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;daughter of GM09649;pat grandfather was affected

text: maternal cousin

text: Homo sapiens

text: Caucasian

text: Female

text: Neurofibromatosis type i

text: GM09650 female unaffected Neurofibromatosis type i sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Parkinson disease

text: 67 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: PD

text: Parkinson disease

text: ND19513 male affected Parkinson disease sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 38 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;son of GM09649;paternal grandfather was affected

text: maternal cousin

text: Homo sapiens

text: Caucasian

text: Male

text: Neurofibromatosis type i

text: GM09651 male unaffected Neurofibromatosis type i sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Parkinson disease

text: 81 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: PD

characteristic: tag

text: Parkinson disease

text: ND19517 male affected Parkinson disease sample


text: Coriell

text: live

text: Generic

text: 39 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;daughter of GM09649;paternal grandfather was affected

text: maternal cousin

text: Homo sapiens

text: Caucasian

text: Female

text: Neurofibromatosis type i

text: GM09652 female unaffected Neurofibromatosis type i sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 74 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: ND19526 male affected Parkinson disease sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Phenotypically normal;son with an unbalanced inversion recombinant (16) is GM09687 Lymphoid

text: mother

text: 46;XX;inv(16)(pter>p13.3::q22.1>p13.3:: q22.1>qter)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Inverted chromosome

text: GM09654 female unaffected Inverted chromosome sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 66 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: second cousin

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: ND19527 male affected Parkinson disease sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 25 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;daughter of GM09567 & 09566A

characteristic: description

text: maternal cousin

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: GTS

text: Gilles de la tourette syndrome

text: GM09656 female unaffected Gilles de la tourette syndrome sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Parkinson disease

text: 76 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: PD

text: Parkinson disease

text: ND19528 female affected Parkinson disease sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 4 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;4 affected paternal cousins include GM05105;GM05106;and GM09790.

text: ASHKENAZI

characteristic: ethnicity

text: paternal cousin

text: Homo sapiens

text: Caucasian

text: Male

text: GM09659 male unaffected Neuropathy, hereditary sensory and autonomic type iii sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 47 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinson disease

characteristic: tag

text: ND19530 male affected Parkinson disease sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 41 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically unaffected;affected nieces and nephews are GM05105;GM05106;and GM09790.

text: ASHKENAZI

text: paternal aunt

text: Homo sapiens

text: Caucasian

text: Female

text: GM09660 female unaffected Neuropathy, hereditary sensory and autonomic type iii sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Parkinson disease

text: 73 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: PD

text: Parkinson disease

text: ND19538 female affected Parkinson disease sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 21 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: description

text: ASHKENAZI

text: paternal cousin

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: GM09661 female unaffected Neuropathy, hereditary sensory and autonomic type iii sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Parkinson disease

text: 74 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Parkinson disease

text: ND19539 male affected Parkinson disease sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 69 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;donor subject has one allele which has the 2507+6T>C mutation in the IKBKAP gene;this donor splice site mutation (IVS20+6T>C) leads to deletion of exon 20 from the mRNA;the second allele tested negative for the IVS20+6T>C and R696P mutations;affected grandchildren are GM05105;GM05106;and GM09790.

text: ASHKENAZI

characteristic: ethnicity

text: paternal grandmother

text: IKBKAP

characteristic: gene

characteristic: mutation

text: T>C

text: Homo sapiens

text: Caucasian

text: Female

text: Inhibitor of kappa light polypeptide gene enhancer in b cells

text: Kinase-complex associated protein

text: IKBKAP

text: GM09662 female unaffected Neuropathy, hereditary sensory and autonomic type iii sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 63 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinson disease

characteristic: tag

text: ND19548 male affected Parkinson disease sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 1 DA

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: French-Canadian;expired at age 14 hrs;abnormal endochondral ossification with shortening of tubular bones & flaring of epiphyses;stenosis of the foramen magnum & spinal canal;thoracic hypoplasia;shortening & curvature of long bones

characteristic: description

text: FRENCH CANADIAN

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: GM09663 male affected Thanatophoric dysplasia with kleeblattschaedel sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Epilepsy

text: 60 YR

text: B-Lymphocyte

text: NINDS Repository

text: English;Scottish;Irish;German;Israeli

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Epilepsy

text: ND19553 female affected Epilepsy sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Porphyria

text: 23 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Hemolytic anemia;splenomegaly;skin photosensitivity;marked cutaneous scarring and deformity;porphyrinuria;erythrodontia;hypertrichosis;4-10% of normal erythrocyte uroporphyrinogen III synthase activity

text: JEWISH

characteristic: ethnicity

text: Homo sapiens

text: Caucasian

text: Male

text: Porphyria

text: Congenital erythropoietic

text: GM09666 male affected Porphyria sample


text: Coriell

text: live

text: Generic

text: 59 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Control

text: Population/convenience control

text: ND19555 male unaffected Control sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC secondary accession

text: live

text: Generic

characteristic: SRA accession

text: Exostoses, multiple type i

text: 19 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Aff pat grandfather;father;and brother;prominent osteochondroma under right radial artery;diffuse involvement of greater trochanter with osteochondromatous change;2 osteochondromata at proximal medial border of both tibial metaphyses

characteristic: description

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: Exostoses, multiple type i

text: GM09667 female affected Exostoses, multiple type i sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Parkinson disease

text: 76 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: ND19560 male affected Parkinson disease sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 4 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Ataxia;dementia;& epilepsy;parents are 1st cous;nerve cell EM exam showed lipopigment;skin cells showed curvilinear bodies & Jansky-Bielschowsky incls;impaired vision;cerebellar atrophy;onset at age 3-4;elev urinary dolichol

text: Homo sapiens

text: Asian

characteristic: race

text: Male

characteristic: sex

text: GM09668 male affected Ceroid lipofuscinosis, neuronal 2, late infantile type sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 69 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: ND19561 male affected Parkinson disease sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 6 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Blindness;dementia;& seizures;EM exam of conjunctiva & liver showed lipopigments & curvilinear bodies;visual inattentiveness;spasticity;muscle wasting;dysphagia & malnutrition

text: Homo sapiens

text: Caucasian

text: Male

text: GM09669 male affected Ceroid lipofuscinosis, neuronal 2, late infantile type sample


text: Coriell

text: live

text: Generic

text: 74 YR

text: B-Lymphocyte

text: NINDS Repository

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

characteristic: tag

text: ND19584 male unaffected Population/convenience control sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Porphyria

text: 40 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Hemolytic anemia;splenomegaly;erythrodontia;skin photosensitivity;porphyrinuria;mild cutaneous lesions;similarly affected sister;10% of normal erythrocyte uroporphyrinogen III synthase activity

characteristic: description

text: SWEDISH

characteristic: ethnicity

text: Homo sapiens

text: Caucasian

text: Female

text: Porphyria

text: Congenital erythropoietic

text: GM09670 female affected Porphyria sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Parkinson disease

text: 64 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: sister

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: PD

text: Parkinson disease

text: ND19587 female affected Parkinson disease sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 7 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Blisters & erosions over trunk;nape;groin;& face;onset at birth;recurrent ear infections;astigmatism;hands & toes show loss of nails without webbing or contractures;neg fam hx;probably junctional Gravis-Herlitz type

text: proband

text: Homo sapiens

text: Black

characteristic: race

text: Male

text: GM09673 male affected Epidermolysis bullosa: dystrophic junctional or simplex types sample

characteristic: title


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 71 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: PD

text: Parkinson disease

text: ND19589 female affected Parkinson disease sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 32 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically unaffected;spouse is also unaffected;1 affected son

text: mother

text: Homo sapiens

text: Black

text: Female

characteristic: tag

text: GM09675 female unaffected Epidermolysis bullosa: dystrophic junctional or simplex types sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 75 YR

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Control

text: Population/convenience control

text: ND19590 male unaffected Control sample


characteristic: DNA id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Spinal muscular atrophy i

text: 2 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Hypotonia;decreased muscle bulk;absent deep tendon reflexes;possible fasciculations;normal CPK;abnormal EMG and muscle biopsy consistent with the diagnosis;expired at age 23 months;eye lens fibroblast culture;negative family history;donor subject has 2 copies of the SMN2 gene

characteristic: description

text: POLISH/GERMAN/?

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Spinal muscular atrophy i

text: GM09677 male affected Spinal muscular atrophy i sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Parkinson disease

text: 74 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: brother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: ND19592 male affected Parkinson disease sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 18 FW

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Abortus fibroblast culture;an aunt with a similar 9p+ unbalanced translocation has severe mental retardation

characteristic: karyotype

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Translocated chromosome

text: GM09679 male unaffected Translocated chromosome sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Parkinson disease

text: 79 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: PD

text: Parkinson disease

text: ND19593 female affected Parkinson disease sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 18 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Blistering since birth;extensive eroded areas on the nape of the neck;dystrophic fingernails & toenails;no fusion of digits;teeth are malformed;rt eye is amblyopic;left eye has ectropion;negative family hx;probably junctional type

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: GM09680 female affected Epidermolysis bullosa: dystrophic junctional or simplex types sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Parkinson disease

text: 72 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: PD

text: Parkinson disease

text: ND19596 female affected Parkinson disease sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: Porphyria

text: 7 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Mild clinical manifestations;porphyrinuria;17% of normal erythrocyte uroporphyrinogen III synthase activity

characteristic: description

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Porphyria

text: Congenital erythropoietic

text: GM09682 female affected Porphyria sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Parkinson disease

text: 76 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: ND19597 male affected Parkinson disease sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 11 MO

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Congenital heart disease;failure to thrive;developmental delay

text: proband

text: 46;XY;rec(16)(qter>p13.3::q22.1>qter)mat;46;XY;rec(16)(qter>p13.3::q22.1>qter)mat .ish rec(16)(16qtel48++)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Recombinant chromosome

text: GM09687 male unaffected Copy number variation (cnv) refernece panel 02 sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Parkinson disease

text: 68 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: PD

text: Parkinson disease

text: ND19612 male affected Parkinson disease sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically unaffected;father;brother (GM09692A);and niece (GM09690A) are affected;son of GM09691

text: maternal cousin

text: Homo sapiens

text: Caucasian

text: Male

text: Neurofibromatosis type i

characteristic: tag

text: GM09688 male unaffected Neurofibromatosis type i sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Parkinson disease

text: 72 YR

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: ND19613 male affected Parkinson disease sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Spouse of GM09692A;clinically unaffected;spouse & daughter (GM09690A) are affected

characteristic: description

text: in-law

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Neurofibromatosis type i

text: GM09689 female unaffected Neurofibromatosis type i sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 67 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Control

text: Population/convenience control

text: ND19616 female unaffected Control sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Neurofibromatosis type i

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Diagnosed at age 17 months;neurofibroma in throat at age 3;multiple neurofibromas;scoliosis surgery;malignancy in larynx;daughter of GM09689 and GM09692A

text: maternal cousin

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Neurofibromatosis type i

text: GM09690 female affected Neurofibromatosis type i sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 66 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Control

text: Population/convenience control

text: ND19617 male unaffected Control sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically unaffected mother of GM09692A and GM09688A

text: in-law

text: Homo sapiens

text: Caucasian

text: Female

text: Neurofibromatosis type i

text: GM09691 female unaffected Neurofibromatosis type i sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Parkinson disease

text: 72 YR

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: PD

characteristic: tag

text: Parkinson disease

text: ND19621 male affected Parkinson disease sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Neurofibromatosis type i

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Multiple neurofibromas;facial paralysis due to neurofibromas and surgery;father and daughter (GM09690A) are also affected;spouse of GM09689;son of GM09691

characteristic: description

text: maternal cousin

text: Homo sapiens

text: Caucasian

text: Male

text: Neurofibromatosis type i

text: GM09692 male affected Neurofibromatosis type i sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Parkinson disease

text: 74 YR

text: B-Lymphocyte

text: NINDS Repository

text: second cousin

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: PD

text: Parkinson disease

text: ND19622 female affected Parkinson disease sample


text: Coriell

text: live

text: Generic

text: Neurofibromatosis type i

text: 51 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Multiple neurofibromas;cafe au lait spots;grandfather;mother;and 4 sibs are also affected

characteristic: family id

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Neurofibromatosis type i

text: GM09693 male affected Neurofibromatosis type i sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Parkinson disease

text: 38 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Parkinson disease

text: ND19633 female affected Parkinson disease sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 8 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;father is affected;affected paternal grandmother is GM09616

text: grandniece

text: Homo sapiens

text: Caucasian

text: Female

text: Neurofibromatosis type i

text: GM09694 female unaffected Neurofibromatosis type i sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Parkinson disease

text: 42 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Parkinson disease

text: ND19695 female affected Parkinson disease sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Seckel syndrome

text: 14 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Extreme microcephaly;height and weight below the 5th percentile;limited elbow extension;severe mental retardation;easy bruisability;no secondary sexual development;see GM09812 Fibro;46;XX/47;XX;+12;72%/20%;+8% other aneuploidies;mitotic instability

text: JEWISH

characteristic: ethnicity

text: proband

text: 47;XX;+12 10 /46;XX 40

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Seckel syndrome

text: GM09703 female affected Seckel syndrome sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Parkinson disease

text: 81 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: PD

characteristic: tag

text: Parkinson disease

text: ND19703 male affected Parkinson disease sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Crigler-najjar syndrome

text: 1 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Jaundice;chronic unconjugated hyperbilirubinemia;Type 1: a liver biopsy showed an absence of glucuronyl transferase activity;parents exhibit a deficiency in the glucuronyl transferase responsiible for the conjugation of methanol

characteristic: description

text: HISPANIC

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Crigler-najjar syndrome

text: GM09705 female affected Crigler-najjar syndrome sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 72 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: sister

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: PD

text: Parkinson disease

text: ND19704 female affected Parkinson disease sample

characteristic: title


characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 4 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Hemifacial microsomia;bilateral microtia;left lateral cleft of lip commissure;micrognathia;absence of mandibular ramus bilaterally;both parents have normal karyotypes;90%/9%/1%;ring is stable

text: HISPANIC

text: 46;XX;r(21)(::p11.2>q22::) 90 /45;XX;-21 9 /46;XX;dic r(21) 1

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Ring chromosome

text: GM09706 female unaffected Ring chromosome sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: Parkinson disease

text: 66 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: ND19705 male affected Parkinson disease sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 63 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;2 affected grandchildren are GM09789 and GM09792.

text: ASHKENAZI

characteristic: ethnicity

text: paternal grandmother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: GM09707 female unaffected Neuropathy, hereditary sensory and autonomic type iii sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Parkinson disease

text: 69 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: ND19707 male affected Parkinson disease sample


text: Coriell

text: live

text: Generic

text: 39 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;affected niece is GM09792 and affected nephew is GM09789.

characteristic: description

text: ASHKENAZI

characteristic: family id

text: paternal aunt

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: GM09708 female unaffected Neuropathy, hereditary sensory and autonomic type iii sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Parkinson disease

text: 64 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: ND19715 male affected Parkinson disease sample

characteristic: title


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 23 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Aniridia;pseudohermaphroditism;Wilms tumor at age 2;mental retardation;46;XY;del(11)(pter>p15.1::p13>qter);normal catalase activity

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Wilms tumor 1

text: Chromosome deletion

text: GM09709 unknown unaffected Chromosome deletion sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Parkinson disease

text: 77 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: PD

text: Parkinson disease

text: ND19719 male affected Parkinson disease sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 10 DA

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Trisomy 13 syndrome features

text: 46;XX;idic(13)(pter>q34::q34>pter);46;XX;idic(13)(ter>q34::q34>pter)

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Dicentric chromosome

characteristic: tag

text: GM09711 female unaffected Dicentric chromosome sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 75 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: sister

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: PD

text: Parkinson disease

text: ND19744 female affected Parkinson disease sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Femoral duplication

text: 1 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Bilat duplication but only the rt duplicated femur is ossified;1 calcaneus with 3 metatarsals & 3 phalanges in each ft;hgt & head circumference <3rd %ile;ambig genitalia;sacral meningocele;abdom/genitourinary/vertebral anomalies

characteristic: description

text: Homo sapiens

text: Black

text: Female

text: Femoral duplication

text: GM09716 female affected Femoral duplication sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 64 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Ash Jewish

characteristic: ethnicity

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: ND19764 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: Usher syndrome type ia

text: 26 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Acadian;similarly affected sister & paternal aunt;retinitis pigmentosa;severe sensorineural auditory deficit;exhibits no speech;severely emotionally disturbed;son of GM10302 & 09722

text: ACADIAN

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Usher syndrome type ia

text: GM09719 male affected Usher syndrome type ia sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Parkinson disease

text: 58 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Parkinson disease

text: ND19765 male affected Parkinson disease sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 16 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;2 affected siblings and a paternal aunt;son of GM10302 and GM09722

text: ACADIAN

text: brother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Usher syndrome type ia

characteristic: tag

text: GM09720 male unaffected Usher syndrome type ia sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 66 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: ND19766 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: 27 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Acadian;clinically unaffected;2 affected sibs & a paternal aunt;daughter of GM10302 & 09722

characteristic: description

text: ACADIAN

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Usher syndrome type ia

text: GM09721 female unaffected Usher syndrome type ia sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Progressive supranuclear palsy

text: 66 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Progressive supranuclear palsy

text: ND19767 female affected Progressive supranuclear palsy sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: 53 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Acadian;clinically unaffected;two affected children;daughter of GM09723;spouse of GM10302

text: ACADIAN

characteristic: ethnicity

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Usher syndrome type ia

text: GM09722 female unaffected Usher syndrome type ia sample


text: Coriell

text: live

text: Generic

text: 49 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

characteristic: sex

text: ND19768 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: 74 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Acadian;clinically unaffected;2 affected grandchildren

text: ACADIAN

text: maternal grandmother

text: Homo sapiens

text: Caucasian

text: Female

text: Usher syndrome type ia

characteristic: tag

text: GM09723 female unaffected Usher syndrome type ia sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: 47 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Tourette syndrome

text: ND19769 female unaffected Tourette syndrome sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 2 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Blistering disorder since birth;mitten deformities beginning on hands;excessive scarring from blistering;complete absence of nails;EM studies are consistent with recess dystrophic HallopeauSiemens type;no fam hx of skin disorder

characteristic: description

text: proband

text: Homo sapiens

text: Black

text: Female

text: GM09726 female affected Epidermolysis bullosa: dystrophic junctional or simplex types sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: Tourette syndrome

text: 10 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND19770 male affected Tourette syndrome sample


text: Coriell

text: live

text: Generic

text: 7 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Born with blistering disorder;large blisters with areas of erosions & considerable scarring;dystrophic teeth;some nails are missing on hands & feet;see GM09735 Fibroblast;probably recessive dystrophic Mitis type

text: brother

text: Homo sapiens

characteristic: organism

text: Black

text: Male

characteristic: sex

text: GM09734 male affected Epidermolysis bullosa: dystrophic junctional or simplex types sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 83 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: ND19771 male affected Parkinson disease sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 7 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Born with blistering disorder;large blisters with areas of erosions & considerable scarring;dystrophic teeth;some nails are missing on hands & feet;see GM09734 Lymphoid;probably recessive dystrophic Mitis type

text: brother

text: Homo sapiens

text: Black

text: Male

characteristic: tag

text: GM09735 male affected Epidermolysis bullosa: dystrophic junctional or simplex types sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Parkinson disease

text: 74 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: PD

text: Parkinson disease

text: ND19782 female affected Parkinson disease sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 28 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;1 affected child;see GM09737 Fibroblast

text: father

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: GM09736 male unaffected Epidermolysis bullosa: dystrophic junctional or simplex types sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Parkinson disease

text: 63 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinson disease

text: ND19783 male affected Parkinson disease sample


text: Coriell

text: live

text: Generic

text: 28 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;1 affected child;see GM09736

characteristic: description

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: GM09737 male unaffected Epidermolysis bullosa: dystrophic junctional or simplex types sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: 71 YR

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Control

text: Population/convenience control

text: ND19787 female unaffected Control sample


text: Coriell

text: live

text: Generic

text: 9 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Prob junctional Gravis type;onset of blisters at age 10 da;1 lrg erosion on face as well as smaller areas of blisters followed by erosions on extremities;neck;& back;no family history of skin disorders;see GM09739 Fibroblast

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: GM09738 male affected Epidermolysis bullosa: dystrophic junctional or simplex types sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 75 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: ND19789 male affected Parkinson disease sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 9 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Prob junctional Gravis type;onset of blisters at age 10 da;1 lrg erosion on face as well as smaller areas of blisters followed by erosions on extremities;neck;& back;no family history of skin disorders;see GM09738 Lymphoid

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: GM09739 male affected Epidermolysis bullosa: dystrophic junctional or simplex types sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Parkinson disease

text: 58 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: ND19807 male affected Parkinson disease sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 30 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;affected child is GM09790;affected nephew is GM05105 and affected niece is GM05106.

text: JEWISH

characteristic: ethnicity

text: paternal uncle

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: GM09749 male unaffected Neuropathy, hereditary sensory and autonomic type iii sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Parkinson disease

text: 54 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: brother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: PD

text: Parkinson disease

text: ND19824 male affected Parkinson disease sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 64 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;3 affected grandchildren are GM08894;GM08895 and GM08896.

characteristic: description

text: JEWISH

text: maternal grandmother

text: Homo sapiens

text: Caucasian

text: Female

text: GM09752 female unaffected Neuropathy, hereditary sensory and autonomic type iii sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: 71 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: German;English;Scotish;Irish

text: sister-in-law

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND19830 female unaffected Population/convenience control sample


text: Coriell

text: live

text: Generic

text: 23 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically unaffected;2 affected nephews are GM08894 and GM08896 and 1 affected niece is GM08895;daughter of GM09752.

text: JEWISH

text: maternal aunt

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: GM09753 female unaffected Neuropathy, hereditary sensory and autonomic type iii sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Parkinson disease

text: 67 YR

text: B-Lymphocyte

text: NINDS Repository

text: Ash Jewish

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: PD

text: Parkinson disease

text: ND19835 female affected Parkinson disease sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 46 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: At risk;father is affected;children are GM10145;09784;& 09767;half-sibs (same father) are GM09769 & 08997;3 sibs are affected;but not shown in pedigree;last examined in 1989;donor subject does not carry the Arg677Ter (R677X) mutation in the RP1 gene.

text: paternal cousin

text: Homo sapiens

text: Caucasian

text: Male

text: Retinitis pigmentosa 1

text: GM09754 male unaffected Retinitis pigmentosa 1 sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 71 YR

text: B-Lymphocyte

text: NINDS Repository

text: Ash Jewish

characteristic: ethnicity

text: unaffected spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Control

characteristic: tag

text: Population/convenience control

text: ND19836 male unaffected Control sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 66 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;donor subject does not carry the Arg677Ter (R677X) mutation in the RP1 gene.

characteristic: family id

text: mother-in-law

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Retinitis pigmentosa 1

text: GM09755 female unaffected Retinitis pigmentosa 1 sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: Parkinson disease

text: 71 YR

text: B-Lymphocyte

text: NINDS Repository

text: Ash Jewish

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: PD

text: Parkinson disease

text: ND19837 female affected Parkinson disease sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 28 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: At risk;possibly affected;deceased father was affected;mother is GM09755;affected brothers are GM09782 & 08962;sister is GM09758;donor subject has a C>T transition at nucleotide 2029 in exon 4 of the RP1 gene 2029C>T resulting in a substitution of a stop codon for arginine at codon 677 Arg677Ter (R677X) .

characteristic: description

text: sister-in-law

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Retinitis pigmentosa 1 gene

text: Retinitis pigmentosa 1

text: GM09756 female unaffected RP1 sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: 53 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

characteristic: sex

text: ND19841 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 21 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;affected parents are GM09002 & 08962;affected sibs are GM08979;09763;& 10147;affected brother is GM09761;donor subject has a C>T transition at nucleotide 2029 in exon 4 of the RP1 gene 2029C>T resulting in a substitution of a stop codon for arginine at codon 677 Arg677Ter (R677X) .

characteristic: family id

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Retinitis pigmentosa 1 gene

characteristic: tag

text: Retinitis pigmentosa 1

text: GM09757 male affected RP1 sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: 52 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: ND19842 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 26 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: At risk;deceased father was affected;mother is GM09755;affected brothers are GM09782 and 08962;sister is GM09756;donor subject does not carry the Arg677Ter (R677X) mutation in the RP1 gene.

characteristic: description

text: sister-in-law

text: Homo sapiens

text: Caucasian

text: Female

text: Retinitis pigmentosa 1

text: GM09758 female unaffected Retinitis pigmentosa 1 sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: Tourette syndrome

text: 22 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND19843 male affected Tourette syndrome sample


text: Coriell

text: live

text: Generic

text: Retinitis pigmentosa 1

text: 68 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;maternal grandfather was affected;both parents were unaffected;donor subject has a C>T transition at nucleotide 2029 in exon 4 of the RP1 gene 2029C>T resulting in a substitution of a stop codon for arginine at codon 677 Arg677Ter (R677X) .

text: paternal cousin

characteristic: gene

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

characteristic: sex

text: Retinitis pigmentosa 1

text: GM09759 male affected Retinitis pigmentosa 1 sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Progressive supranuclear palsy

text: 74 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Progressive supranuclear palsy

characteristic: tag

text: ND19850 male affected Progressive supranuclear palsy sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: Retinitis pigmentosa 1

text: 35 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;father is affected;mother is GM09783;brother is GM09766;affected paternal grandfather was father of GM09002;donor subject has a C>T transition at nucleotide 2029 in exon 4 of the RP1 gene 2029C>T resulting in a substitution of a stop codon for arginine at codon 677 Arg677Ter (R677X) .

text: half niece

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Retinitis pigmentosa 1

text: GM09760 female affected Retinitis pigmentosa 1 sample


text: Coriell

text: live

text: Generic

text: 75 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND19851 female unaffected Population/convenience control sample

characteristic: title


characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: Retinitis pigmentosa 1

text: 15 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;affected parents are GM09002 & 08962;affected sibs are GM08979;09757;09763;& 10147;last examined in 1989;donor subject has a C>T transition at nucleotide 2029 in exon 4 of the RP1 gene 2029C>T resulting in a substitution of a stop codon for arginine at codon 677 Arg677Ter (R677X) .

characteristic: description

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Retinitis pigmentosa 1

text: GM09761 male affected Retinitis pigmentosa 1 sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 63 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: sex

text: PD

text: Parkinson disease

text: ND19860 female affected Parkinson disease sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 27 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: At risk;affected mother is GM08990A;brother is GM09765;donor subject does not carry the Arg677Ter (R677X) mutation in the RP1 gene.

characteristic: family id

text: paternal cousin

text: Homo sapiens

text: Caucasian

text: Male

text: Retinitis pigmentosa 1

text: GM09762 male unaffected Retinitis pigmentosa 1 sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: Parkinson disease

text: 53 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: PD

characteristic: tag

text: Parkinson disease

text: ND19875 male affected Parkinson disease sample


text: Coriell

text: live

text: Generic

text: 16 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;affected parents are GM09002 & 08962;affected sibs are GM08979;09757;09761;& 10147;last examined in 1989;donor subject has a C>T transition at nucleotide 2029 in exon 4 of the RP1 gene 2029C>T resulting in a substitution of a stop codon for arginine at codon 677 Arg677Ter (R677X) .

text: son

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Retinitis pigmentosa 1 gene

text: Retinitis pigmentosa 1

text: GM09763 male affected RP1 sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Parkinson disease

text: 78 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: ND19885 male affected Parkinson disease sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 51 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;2 affected children are GM09296 and GM09297.

characteristic: description

text: ASHKENAZI

characteristic: ethnicity

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: GM09764 female unaffected Neuropathy, hereditary sensory and autonomic type iii sample


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Parkinson disease

text: 67 YR

text: B-Lymphocyte

text: NINDS Repository

text: Ash Jewish

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Parkinson disease

text: ND19887 male affected Parkinson disease sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 34 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: At risk;affected mother is GM08990A;brother is GM09762;donor subject does not carry the Arg677Ter (R677X) mutation in the RP1 gene.

text: paternal cousin

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: Retinitis pigmentosa 1

text: GM09765 male unaffected Retinitis pigmentosa 1 sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 65 YR

text: B-Lymphocyte

text: NINDS Repository

text: Ash Jewish

text: unaffected spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: ND19888 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 33 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: At risk;father is affected;mother is GM09783;affected sister is GM09760;donor subject does not carry the Arg677Ter (R677X) mutation in the RP1 gene.

text: half-nephew

text: Homo sapiens

text: Caucasian

text: Male

text: Retinitis pigmentosa 1

text: GM09766 male unaffected Retinitis pigmentosa 1 sample

characteristic: title


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 74 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: PD

text: Parkinson disease

text: ND19894 female affected Parkinson disease sample


text: Coriell

text: live

text: Generic

text: 25 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: At risk;father is GM09754;mother is GM10144;brother of GM09784 & 10145;paternal grandfather was affected;donor subject does not carry the Arg677Ter (R677X) mutation in the RP1 gene.

characteristic: description

text: paternal cousin

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Retinitis pigmentosa 1

text: GM09767 male unaffected Retinitis pigmentosa 1 sample


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: Parkinson disease

text: 71 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: ND19902 male affected Parkinson disease sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 17 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: At risk;affected father is GM08993A;mother is GM09011A;sister is GM10521;last examined in 1989;donor subject does not carry the Arg677Ter (R677X) mutation in the RP1 gene.

characteristic: family id

text: paternal cousin

text: Homo sapiens

text: Caucasian

text: Male

text: Retinitis pigmentosa 1

text: GM09768 male unaffected Retinitis pigmentosa 1 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Parkinson disease

text: 69 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: PD

text: Parkinson disease

text: ND19904 male affected Parkinson disease sample


text: Coriell

text: live

text: Generic

text: 32 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: At risk;father is affected;mother is GM09772A;affected sister is GM08997;half-sib (same father) is GM09754;last examined in 1989

text: paternal cousin

text: Homo sapiens

text: Caucasian

text: Male

text: Retinitis pigmentosa 1

text: GM09769 male unaffected Retinitis pigmentosa 1 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 71 YR

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND19905 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Retinitis pigmentosa 1

text: 18 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;affected father is GM08947;mother is GM09773;sister is GM09774;last examined in 1989;donor subject has a C>T transition at nucleotide 2029 in exon 4 of the RP1 gene 2029C>T resulting in a substitution of a stop codon for arginine at codon 677 Arg677Ter (R677X) .

text: paternal cousin

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Retinitis pigmentosa 1

text: GM09770 male affected Retinitis pigmentosa 1 sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Parkinson disease

text: 51 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: ND19916 male affected Parkinson disease sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: 73 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;affected children are GM08967;08948A;08970;GM08978;& 08956;deceased;affected spouse was brother of GM08960C;08995;& 09012C;donor subject does not carry the Arg677Ter (R677X) mutation in the RP1 gene.

characteristic: description

text: in-law

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Retinitis pigmentosa 1

text: GM09771 female unaffected Retinitis pigmentosa 1 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Parkinson disease

text: 95 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: PD

text: Parkinson disease

text: ND19917 male affected Parkinson disease sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;deceased;spouse is affected;affected daughter is GM08997;son is GM09769;donor subject does not carry the Arg677Ter (R677X) mutation in the RP1 gene.

text: in-law

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: Retinitis pigmentosa 1

text: GM09772 female unaffected Retinitis pigmentosa 1 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Progressive supranuclear palsy

text: 58 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Progressive supranuclear palsy

text: ND19924 male affected Progressive supranuclear palsy sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 53 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;affected spouse is GM08947;children are GM09770 and 09774;last examined in 1989;donor subject does not carry the Arg677Ter (R677X) mutation in the RP1 gene.

text: in-law

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Retinitis pigmentosa 1

text: GM09773 female unaffected Retinitis pigmentosa 1 sample


text: Coriell

text: live

text: Generic

text: 52 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND19925 female unaffected Population/convenience control sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 30 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: At risk;possibly affected;affected father is GM08947;mother is GM09773;affected brother is GM09770;last examined in 1989;donor subject has a C>T transition at nucleotide 2029 in exon 4 of the RP1 gene 2029C>T resulting in a substitution of a stop codon for arginine at codon 677 Arg677Ter (R677X) .

text: paternal cousin

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Retinitis pigmentosa 1

text: GM09774 female unaffected Retinitis pigmentosa 1 sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Parkinson disease

text: 85 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: PD

text: Parkinson disease

text: ND19927 female affected Parkinson disease sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Retinitis pigmentosa 1

text: 40 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;father is affected;mother is GM10533;donor subject has a C>T transition at nucleotide 2029 in exon 4 of the RP1 gene 2029C>T resulting in a substitution of a stop codon for arginine at codon 677 Arg677Ter (R677X) .

characteristic: description

characteristic: family id

text: paternal cousin

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Retinitis pigmentosa 1

text: GM09775 female affected Retinitis pigmentosa 1 sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Parkinson disease

text: 64 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Ash Jewish

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: PD

characteristic: tag

text: Parkinson disease

text: ND19929 male affected Parkinson disease sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 31 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically unaffected;affected spouse is GM09782;questionably affected daughter is GM09777;donor subject does not carry the Arg677Ter (R677X) mutation in the RP1 gene.

text: in-law

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Retinitis pigmentosa 1

text: GM09776 female unaffected Retinitis pigmentosa 1 sample


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: 61 YR

text: B-Lymphocyte

text: NINDS Repository

text: Ash Jewish

text: unaffected spouse

text: Homo sapiens

text: Caucasian

text: Female

text: ND19930 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Retinitis pigmentosa 1

text: 11 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Probable affected;affected father is GM09782;mother is GM09776;donor subject has a C>T transition at nucleotide 2029 in exon 4 of the RP1 gene 2029C>T resulting in a substitution of a stop codon for arginine at codon 677 Arg677Ter (R677X) .

text: paternal cousin

characteristic: gene

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Retinitis pigmentosa 1

text: GM09777 female affected Retinitis pigmentosa 1 sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Epilepsy

text: 21 MO

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Epilepsy

text: ND19946 male affected Epilepsy sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 61 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: At risk;deceased mother was affected;unaffected sister is GM08966;affected sister is GM08958A;affected nephew is GM08965;donor subject does not carry the Arg677Ter (R677X) mutation in the RP1 gene.

characteristic: description

text: paternal cousin

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: Retinitis pigmentosa 1

text: GM09778 male unaffected Retinitis pigmentosa 1 sample


text: Coriell

text: live

text: Generic

text: 24 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: mother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: ND19947 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 43 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: At risk;father & 3 uncles are affected;affected brother is GM09001B;donor subject does not carry the Arg677Ter (R677X) mutation in the RP1 gene.

text: paternal cousin

text: Homo sapiens

text: Caucasian

text: Male

text: Retinitis pigmentosa 1

text: GM09779 male unaffected Retinitis pigmentosa 1 sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Amyotrophic lateral sclerosis 1

text: 64 YR

text: B-Lymphocyte

text: NINDS Repository

text: English;Irish;Scotish;Welch

characteristic: ethnicity

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Amyotrophic lateral sclerosis 1

text: ND19970 female affected Amyotrophic lateral sclerosis 1 sample