characteristic: External Id

text: Coriell

text: live

text: Generic

text: 11 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: 66%/24%/10% mosaic;formerly GM00069

text: proband

text: 47;XY;+21 12 /47;XY;+i(21) (qter>q10::q10>qter) 10 /46;XY 33

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Aneuploid chromosome number - trisomy

text: GM00260 male unaffected Aneuploid chromosome number - trisomy sample

characteristic: title


status: PUBLIC

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 75 YR

tag: attribute

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse of ND00082

characteristic: description

characteristic: family id

text: spouse

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Population/convenience control

characteristic: tag

text: ND00238 female unaffected Population/convenience control sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 36 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Proband not in Repository;35% of normal galactocerebroside beta-galactosidase activity;clinically unaffected

text: parent

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Krabbe disease

text: GM00267 female unaffected Krabbe disease sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Parkinsonism

text: 73 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse is ND00253

text: proband

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

text: Female

text: OTHER

text: Parkinsonism

text: ND00252 female affected Parkinsonism sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 41 YR

characteristic: age

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Proband not in Repository;45% of normal galactocerebroside beta-galactosidase activity;clinically unaffected

text: parent

text: Homo sapiens

text: Caucasian

text: Male

text: Krabbe disease

text: GM00268 male unaffected Krabbe disease sample


text: Coriell

text: live

text: Generic

text: 79 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse of ND00252

characteristic: description

characteristic: family id

text: spouse

characteristic: gene

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: ND00253 male unaffected Population/convenience control sample


text: Coriell

text: live

text: Generic

text: 30 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Possible carrier for fatal X-linked Schilder's disease with adrenal insufficiency;1 affected son

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Adrenoleukodystrophy

characteristic: tag

text: ALD

text: GM00269 female unaffected Adrenoleukodystrophy sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Parkinson disease

text: 74 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND00270

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Parkinsons panel: caucasian from the united states

text: PD

text: Parkinson disease

text: ND00267 male affected Parkinson disease sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 28 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Normal phenotype;1 spontaneous abortion and 1 stillborn with anomalies

text: 46;XX;t(17;19)(17pter>17q23::19p13> 19pter;19qter>19p13::17q23>17qter)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Translocated chromosome

text: GM00271 female unaffected Translocated chromosome sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 74 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse of ND00267

text: spouse

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND00270 female unaffected Population/convenience control sample


text: Coriell

text: live

text: Generic

text: 42 YR

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Skin biopsy (upper right arm)

characteristic: description

text: 46;XY;46;XY;add(1)(pter>q43 or 44::?) 10 / 47;XY;t(4;9)(4pter>4q12::9q32>9qter;9pter>9q32::4q12>4qter);del(17)(pter>q11::q23>qter);+iso(17)(qter>q10::q10>qter) 10 / 46;XY;der(1)t(1;3)(1pter>1q44::3p1>3pter) 4 /47;XY;del(7)?;del(17)(pter>q11::q23>qter);+iso(17)(qter>q10::q10>qter) 2 /46;XY 74

text: Homo sapiens

text: Caucasian

text: Male

text: Apparently healthy non-fetal tissue

text: GM00275 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 49 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse is ND00276

characteristic: family id

text: proband

characteristic: gene

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: PD

characteristic: tag

text: Parkinson disease

text: Young onset parkinsons disease: affected individuals

text: ND00273 male affected Parkinson disease sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Familial hypercholesterolemia

text: 28 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Formerly GM00102;elevated plasma cholesterol;mother of GM00376

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: FHC

text: Familial hypercholesterolemia

text: GM00283 female affected Familial hypercholesterolemia sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 63 YR

text: B-Lymphocyte

text: NINDS Repository

text: Affected spouse is ND00275;affected sister is ND00171;unaffected nieces are ND00169 and ND00172

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: ND00274 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 4 DA

characteristic: age

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Multiple congenital anomalies

characteristic: karyotype

text: Homo sapiens

text: Black

text: Male

text: Ring chromosome

text: GM00285 male unaffected Ring chromosome sample


text: Coriell

text: live

text: Generic

text: PD

text: 61 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected spouse is ND00274;affected sister-in-law is ND00171;unaffected nieces are ND00169 and ND00172.

characteristic: description

characteristic: family id

text: sister-in-law

text: Homo sapiens

text: Caucasian

text: Female

text: Parkinsons panel: caucasian from the united states

text: PD

text: Parkinson disease

text: ND00275 female affected PD sample


text: Coriell

text: live

text: Generic

text: 64 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Skin biopsy (right forearm) formerly GM00095;spouse is GM00305A (Huntington's disease fibroblast);46;XY;8% of cells show random chromosome loss

text: spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Apparently healthy non-fetal tissue

characteristic: tag

text: GM00288 male unaffected Apparently healthy non-fetal tissue sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 42 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse of ND00273

text: spouse

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND00276 female unaffected Population/convenience control sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 31 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: See GM01023 Lymphoid;low-normal alphaL-fucosidase activity;2 affected children;clinically unaffected father of GM00292 & 00291

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Fucosidosis

text: GM00289 male unaffected Fucosidosis sample


text: Coriell

text: live

text: Generic

text: 65 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse is ND00279;unaffected sister is ND00278

text: proband

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

text: Male

text: Young onset parkinsons panel: affected individuals

text: PD

text: Restless leg syndrome

text: Parkinson disease

text: ND00277 male affected Young onset parkinsons panel: caucasian subjects from north america sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 29 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: See GM01026 Lymphoid;low-normal alphaL-fucosidase activity;2 affected children;clinically unaffected mother of GM00292 and 00291

characteristic: description

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Fucosidosis

text: GM00290 female unaffected Fucosidosis sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 67 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected sister of ND00277

text: sister

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

characteristic: tag

text: ND00278 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Fucosidosis

text: 9 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Type II;deficient alpha-L-fucosidase;see GM01024 Lymphoid

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Fucosidosis

text: GM00291 male affected Fucosidosis sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 74 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse of ND00277

text: spouse

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND00279 female unaffected Population/convenience control sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Fucosidosis

text: 4 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Type II;deficient alpha-L-fucosidase;46;XY;similarly affected sib;see GM01025 Lymphoid

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Fucosidosis

text: GM00292 male affected Fucosidosis sample


text: Coriell

text: live

text: Generic

text: 40 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected father is ND00281

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Young onset parkinsons panel: caucasian subjects from north america

text: PD

text: Parkinson disease

text: ND00280 male affected Young onset parkinsons panel: affected individuals sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Sandhoff disease

text: 2 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Deficient hexosaminidase A and B;< 1% of normal fibroblast preB-chain mRNA;0.5% of normal fibroblast Hex A activity;Hex B gene shows a partial gene deletion localized to the 5' end

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Sandhoff disease

text: GM00294 male affected Sandhoff disease sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 69 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected father of ND00280

characteristic: family id

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

characteristic: tag

text: ND00281 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 5 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Quadriplegic and severely retarded;brother also has MSUD;2-5% of normal branched-chain amino acid decarboxylase activity;positive for cross-reactive material for BCKDH complex subunits E1A;E2;and E3

text: Homo sapiens

text: Black

text: Male

text: GM00296 male affected Maple syrup urine disease (msud) type ia sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Parkinson disease

text: 79 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND00284

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinsons panel: caucasian from the united states

text: PD

text: Parkinson disease

text: ND00283 male affected Parkinson disease sample


text: Coriell

text: live

text: Generic

text: 13 DA

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Deficient (1%) branched-chain keto-acid decarboxylase activity;high urinary leucine;isoleucine;and valine and their branched-chain alpha-keto acid derivatives

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: GM00297 female affected Maple syrup urine disease (msud) type ia sample


text: Coriell

text: live

text: Generic

text: 79 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected spouse of ND00283

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND00284 female unaffected Population/convenience control sample


text: Coriell

text: live

text: Generic

text: Mucopolysaccharidosis type ii

text: 2 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Similarly affected brother;excessive mucopolysaccharide accumulation correctable by Hunter factor

characteristic: description

text: Homo sapiens

text: Caucasian

text: Male

text: Mucopolysaccharidosis type ii

text: GM00298 male affected Mucopolysaccharidosis type ii sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Parkinson disease

text: 82 YR

text: B-Lymphocyte

text: NINDS Repository

text: Affected sister is ND00384

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: ND00289 male affected Parkinson disease sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Glycogen storage disease iii

text: 9 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Formerly GM00055;less than 10% of normal debrancher enzyme activity

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Glycogen storage disease iii

text: GM00303 female affected Glycogen storage disease iii sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 69 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND00294

characteristic: family id

text: proband

text: Homo sapiens

text: American Indian

text: Male

characteristic: sex

text: PD

text: Parkinson disease

text: ND00293 male affected Parkinson disease sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Cystinosis, nephropathic

text: 24 FW

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Skin fibroblasts;formerly GM00091;increased intracellular cystine in fibroblasts;same patient as GM00090A

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Cystinosis, nephropathic

characteristic: tag

text: CTNS

text: GM00304 male affected Cystinosis, nephropathic sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 67 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse of ND00293

text: spouse

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND00294 female unaffected Population/convenience control sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Huntington disease

text: 56 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Age at onset:46;uncertain family history;normal spouse is GM00288 Fibroblast;formerly GM00094

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Huntington disease

text: HD

text: GM00305 female affected Huntington disease sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 71 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected spouse is ND00296

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinsons panel: caucasian from the united states

text: PD

text: Parkinson disease

text: ND00295 male affected Parkinson disease sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Mucopolysaccharidosis type iiia

text: 3 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Deficient heparan sulfate sulfatase

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Mucopolysaccharidosis type iiia

text: GM00312 female affected Mucopolysaccharidosis type iiia sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 70 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND00295

characteristic: family id

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Population/convenience control

characteristic: tag

text: ND00296 female unaffected Population/convenience control sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 60 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Ovarian dysgenesis without Turner stigmata;70% of cells have the dicentric chromosome;dicentric X is late replicating

text: 46;X;idic(X)(qter>p22::p22>qter) 35 /45;X 15

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Dicentric chromosome

text: GM00314 female unaffected Aneuploid chromosome number - non-trisomic sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Restless leg syndrome

text: 53 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse is ND00309 Unaffected spouse is ND00309

text: ITALIAN

characteristic: ethnicity

text: proband

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Young onset parkinsons panel: caucasian subjects from north america

text: Young onset parkinsons panel: affected individuals

text: PD

text: Restless leg syndrome

text: Parkinson disease

text: Rem behavior disorder

text: ND00308 male affected Restless leg syndrome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 12 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: 46;XY;skin biopsy (arm);12% of cells show random chromosome loss and 6% are tetraploid

characteristic: description

text: 46;XY;46;XY;?t(8;10;11;15) 14 /46;XY 6;46;XY;t(8;10;11;15) 29 /46;XY 21

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Apparently healthy non-fetal tissue

text: GM00316 male unaffected Apparently healthy non-fetal tissue sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 54 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse of ND00308

characteristic: family id

text: spouse

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Population/convenience control

text: ND00309 female unaffected Population/convenience control sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Sandhoff disease

text: 1 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Deficient hexosaminidase A and B;< 1% of normal fibroblast pre B-chain mRNA;0.3% of normal fibroblast Hex A activity;Hex B gene shows a partial gene deletion localized to the 5' end

text: Homo sapiens

text: Black

text: Female

text: Sandhoff disease

characteristic: tag

text: GM00317 female affected Sandhoff disease sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 56 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse is ND00311

text: proband

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: ND00310 male affected Parkinson disease sample


text: Coriell

text: live

text: Generic

text: 40 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: HPRT+;G6PDB/HPRT-;G6PDA;formerly GM0134;three affected sons

characteristic: description

text: maternal aunt

text: Homo sapiens

characteristic: organism

text: Black

text: Female

text: LNS

text: Lesch-nyhan syndrome

text: GM00318 female unaffected Lesch-nyhan syndrome sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 56 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse of ND00310

text: spouse

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND00311 female unaffected Population/convenience control sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 40 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: 46;XX;skin biopsy (upper arm);Sardinian;normal RBC G6PD level;Xg(a) antigen positive;mother of GM00323A and 00326B (XXXXY)

characteristic: family id

text: mother

characteristic: karyotype

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Apparently healthy non-fetal tissue

text: GM00321 female unaffected Apparently healthy non-fetal tissue sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Parkinson disease

text: 67 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected daughter is ND00326

text: proband

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

text: Female

text: Parkinsons panel: caucasian from the united states

characteristic: tag

text: PD

text: Parkinson disease

text: ND00325 female affected Parkinson disease sample


text: Coriell

text: live

text: Generic

text: 11 YR

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: 46;XY;4% of cells show chromosome loss;skin biopsy (upper arm);Sardinian;normal RBC G6PD level;Xg(a) antigen positive;brother of GM00326B (XXXXY);mother is GM00321 Fibroblast

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Apparently healthy non-fetal tissue

text: GM00323 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 39 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected daughter of ND00325

characteristic: description

text: daughter

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Schizophrenia

text: ND00326 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 22 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Sardinian;homozygous for G6PD (med type);Xg(a) antigen present;47;XY;t(X;7)(Xpter>Xq24::7q32>7qter;7pter> 7q32::Xq24>Xqter);G6PD mutation is 563C>T (Ser188Phe{S188F})

text: 47;Y;t(X;7)(Xpter>Xq24::7q32>7qter;7pter>7q32::Xq24>Xqter);+X

text: Homo sapiens

text: Caucasian

text: Male

text: Glucose-6-phosphate dehydrogenase

text: GM00324 male unaffected Glucose-6-phosphate dehydrogenase sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 63 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse is ND00332

characteristic: family id

text: proband

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Young onset parkinsons dna panel: affected individuals

text: PD

text: Parkinson disease

text: ND00331 male affected Parkinson disease sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 30 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Sardinian;heterozygous for G6PD deficiency (med type);Xg(a) antigen present;47;XXY;G6PD mutation is 563C>T (Ser188Phe{S188F})

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: Glucose-6-phosphate dehydrogenase

text: GM00325 male unaffected Glucose-6-phosphate dehydrogenase sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 60 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse of ND00331

characteristic: description

text: spouse

characteristic: gene

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND00332 female unaffected Population/convenience control sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 6 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Normal RBC G6PD level;Xg(a) antigen positive;severe retardation;hypogonadism;mother is GM00321 Fibroblast

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Xxxy and xxxxy syndrome

text: GM00326 male unaffected Aneuploid chromosome number - non-trisomic sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 64 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse is ND00350

characteristic: family id

text: proband

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: PD

text: Parkinson disease

text: Young onset parkinsons disease: affected individuals

text: ND00348 female affected Parkinson disease sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 24 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;offspring had multiple congenital anomalies

text: 46;XY;t(2;8)(2pter>2q13::8q24>8qter;8pter>8q24::2q13>2qter)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Translocated chromosome

characteristic: tag

text: GM00327 male unaffected Translocated chromosome sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 65 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected spouse of ND00348

characteristic: description

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: ND00350 male unaffected Population/convenience control sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 2 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Line AUC;passage 2 at CCR;culture is moderately growth inhibited when medium lacks uridine;more severely inhibited when adenosine is added to uridine-deficient medium;< 2% of control fibro UMP synthase act;act increases with 6-azaU

text: IRISH/MAORI

characteristic: ethnicity

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: GM00328 male affected Oroticaciduria types i or ii - 258900 or 258920 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 54 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse is ND00356

characteristic: family id

text: proband

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Young onset parkinsons panel: caucasian subjects from north america

text: PD

text: Parkinson disease

text: ND00355 male affected Young onset parkinsons panel: affected individuals sample

characteristic: title


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 23 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: 46;XX;6% of cells show random chromosome loss;18% of cells have an attenuation of 16qh

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Apparently healthy non-fetal tissue

characteristic: tag

text: GM00333 female unaffected Apparently healthy non-fetal tissue sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 52 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected spouse of ND00355

characteristic: description

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND00356 female unaffected Population/convenience control sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Galactokinase deficiency

text: 22 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Cataracts;deficient galactokinase activity;passage 10 at CCR;slow growing culture

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Galactokinase deficiency

text: GM00334 female affected Galactokinase deficiency sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Restless leg syndrome

text: 51 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse is ND00358

text: proband

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: PD

text: Dementia with lewy bodies

text: Restless leg syndrome

text: Parkinson disease

text: ND00357 female affected Restless leg syndrome sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 53 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Passage 3 at CCR;58% of control galactokinase activity in fibroblasts;clinically unaffected mother of GM00334A

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Galactokinase deficiency

characteristic: tag

text: GM00335 female unaffected Galactokinase deficiency sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 53 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND00357

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: ND00358 male unaffected Population/convenience control sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 62 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Passage 4 at CCR;79% of control galactokinase activity in fibroblasts;clinically unaffected father of GM00334A

characteristic: description

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Galactokinase deficiency

text: GM00336 male unaffected Galactokinase deficiency sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Parkinson disease

text: 55 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse is ND00361

characteristic: family id

text: proband

text: WILDTYPE for GLY2019

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Young onset parkinsons dna panel: affected individuals

text: PD

text: Parkinson disease

text: ND00359 male affected Parkinson disease sample


text: Coriell

text: live

text: Generic

text: 35 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Mother of an affected child;proband not in Repository

text: parent

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Adrenoleukodystrophy

text: ALD

text: GM00337 female unaffected Adrenoleukodystrophy sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 55 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND00359

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND00361 female unaffected Population/convenience control sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: Glucosidase acid alpha

text: 1 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Infantile onset;Respiratory distress;cardiomegaly;and enlarged liver;a sib died at age 3 months with cardiomegaly;deficient acid-alpha-1;4 glucosidase activity (0.20%);low levels of GAA mRNA;no GAA protein detected by antibody;culture grows poorly;donor subject is homozygous for a C>T transition at nucleotide 2560 in exon 18 of the GAA gene (2560C>T) which results in a nonsense codon at amino acid 854 Arg854Ter (R854X)

text: GAA

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Black

text: Male

characteristic: sex

text: Glucosidase acid alpha

characteristic: tag

text: GAA

text: Glycogen storage disease ii

text: GM00338 male affected Glucosidase acid alpha sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 44 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected sister is ND00364

text: proband

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

text: Female

text: Young onset parkinsons panel: affected individuals

text: PD

text: Dementia with lewy bodies

text: Parkinson disease

text: ND00363 female affected Young onset parkinsons panel: caucasian subjects from north america sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 25 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: 60%/40% mosaic;83% of XO cells have additional t(2;4);a subline with two dic(X) is present in 4% of cells;Turner syndrome

characteristic: description

text: 45;X;t(2;4)(2qter>2p13::4q31>4qter;4pter>4q31::2p13>2pter) 28 /46;X;idic(X)(qter>p11::p11>qter) 15 /45;X 5}/47;X;idic(X)(p11);+idic(X)(p11) 2

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Isodicentric chromosome

text: Turner syndrome

text: GM00339 female unaffected Isodicentric chromosome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 52 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected sister of ND00363

characteristic: family id

text: sister

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: ND00364 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: Homocystinuria

text: 20 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Excessive urinary homocystine;low IQ;bone pain;seizures;ectopic lens;osteoporosis;spinal compression fractures;B6 responsive;deficient cystathionine synthetase activity

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Homocystinuria

characteristic: tag

text: GM00342 female affected Homocystinuria sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Parkinson disease

text: 68 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse is ND00366

text: proband

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: ND00365 male affected Parkinson disease sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 7 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Cri du Chat

characteristic: description

text: 45;XY;der(5)(5qter>5p14 ::15q11>15qter);t(9;11)(9qter>9p24:: 11q23>11qter;11pter>11q23::9p24>9pter);-15

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Translocated chromosome

text: GM00344 male unaffected Translocated chromosome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 50 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND00365

characteristic: family id

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Population/convenience control

text: ND00366 female unaffected Population/convenience control sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 3 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Carrier level of arylsulfatase A;clinically unaffected;cousin has infantile MLD;passage 4 at CCR

text: maternal first cousin

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Metachromatic leukodystrophy

characteristic: tag

text: GM00357 male unaffected Metachromatic leukodystrophy sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 13 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Son of ND00087 (ND00368) and ND00085

text: son

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Spasmodic torticollis-cervical dystonia

text: ND00369 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Beckwith-wiedemann syndrome

text: 8 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Negative family history;clinically affected

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Beckwith-wiedemann syndrome

text: BWS

text: GM00359 male affected Beckwith-wiedemann syndrome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 22 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected daughter of ND00136;unaffected brother is ND00372;unaffected maternal aunt is ND00375;unaffected maternal uncles are ND00373 and ND00374;unaffected grandmo

characteristic: family id

text: daughter

text: WILDTYPE for GLY2019

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: ND00371 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 21 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;46;XY in leukocytes and fibroblasts;normal RBC G6PD level;Xg(a) antigen positive

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: BTK

text: GM00362 male affected Bruton agammaglobulinemia tyrosine kinase sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 20 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected daughter of ND00136;unaffected sister is ND00371;unaffected maternal aunt is ND00375;unaffected maternal uncles are ND00373 and ND00374;unaffected grandmot

text: son

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: ND00372 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: Alzheimer disease

text: 53 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Pedigree contains many affected individuals;46;XY;clinically affected

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: AD

text: Alzheimer disease

text: GM00364 male affected Alzheimer disease sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 50 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected brother of ND00136;unaffected sister is ND00375;unaffected brother is ND00373;unaffected mother is ND00137;unaffected father is ND00135;unaffected niece i

characteristic: family id

text: brother

text: WILDTYPE for GLY2019

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: ND00374 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 4 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Multiple anomalies;mother has inv(3) (p25q21)

text: proband

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Recombinant chromosome

text: GM00366 male unaffected Recombinant chromosome sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 58 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected sister of ND00136;unaffected brothers are ND00373 and ND00374;unaffected mother is ND00137;unaffected father is ND00135;unaffected niece is ND00371;unaffe

text: sister

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: ND00375 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Ataxia-telangiectasia

text: 17 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Fibroblast culture (lung biopsy);a deceased sister had AT;more resistant to neocarzinostatin inhibition of DNA synthesis than normal fibroblasts

text: Homo sapiens

text: Caucasian

text: Male

text: AT

characteristic: tag

text: Ataxia-telangiectasia

text: GM00367 male affected Ataxia-telangiectasia sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Dementia with lewy bodies

text: 73 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse is ND00377

characteristic: description

characteristic: family id

text: proband

text: WILDTYPE for GLY2019

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Dementia with lewy bodies

text: ND00376 male affected Dementia with lewy bodies sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 8 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Multiple chromosome breaks;46;XY;increased chromosome aberrations following treatment with mitomycin-C;clinically affected

characteristic: karyotype

text: Homo sapiens

text: Black

characteristic: race

text: Male

characteristic: sex

text: GM00368 male affected Fanconi anemia complementation group undetermined sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 60 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND00376

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND00377 female unaffected Population/convenience control sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Fanconi anemia, complementation group a

text: 6 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Complementation group A;multiple chromosome breaks and gaps;clinically affected

text: Homo sapiens

text: Caucasian

text: Male

text: Fanconi anemia, complementation group a

text: FANCA

text: GM00369 male affected Fanconi anemia, complementation group a sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: PD

text: 83 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected daughters are ND00385 and ND00474

text: proband

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Parkinsons panel: caucasian from north america

characteristic: tag

text: Late onset parkinsons dna panel: affected individuals

text: PD

text: Parkinson disease

text: ND00379 female affected PD sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Niemann-pick disease type a

text: 1 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: 7% of normal sphingomyelinase activity;deficient phospholipase C activity;and increased cholesterol biosynthesis in fibroblasts;type A;tested and negative for the three most common mutations in SMPD1;i.e.;R496L (607608.0001);L302P (607608.0010);and P330fsX382 (607608.0011).

characteristic: description

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Niemann-pick disease type a

text: GM00370 female affected Niemann-pick disease type a sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: PD

text: 78 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Affected brother is ND00289

characteristic: family id

text: sister

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: PD

text: Parkinson disease

text: ND00384 female affected PD sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Propionic acidemia

text: 7 WK

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Deficient Propionyl CoA carboxylase activity

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Propionic acidemia

text: GM00371 female affected Propionic acidemia sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 58 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected daughter of ND00379;sister of ND00474

text: daughter

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

text: Female

text: ND00385 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: Gaucher disease type i

text: 29 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Adult;6% of control fibroblast glucocerebrosidase activity;donor subject is a compound heterozygote for mutations in the gene encoding acid-beta glucosidase (GBA): one allele carries a single-base mutation (adenosine to guanosine transition) in exon 9 at position 1226 (1226A>G)of the glucocerebrosidase gene which results in the amino acid substitution of serine for asparagine Asn370Ser (N370S) . The second allele carries an insertion of a second guanine at cDNA nucleotide 84 (84GG).

text: GBA

characteristic: gene

text: 1-BP INS

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Gaucher disease type i

characteristic: tag

text: GBA

text: Glucosidase acid beta

text: GM00372 male affected Gaucher disease type i sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 48 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse is ND00387

characteristic: description

text: proband

text: WILDTYPE for GLY2019

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Young onset parkinsons panel: caucasian subjects from north america

text: PD

text: Parkinson disease

text: ND00386 female affected Young onset parkinsons panel: affected individuals sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Familial hypercholesterolemia

text: 6 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Formerly GM00099;elevated plasma cholesterol

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: FHC

text: Familial hypercholesterolemia

text: GM00376 female affected Familial hypercholesterolemia sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 49 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND00386

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: ND00387 male unaffected Population/convenience control sample

characteristic: title


text: Coriell

text: live

text: Generic

text: Lesch-nyhan syndrome

text: 8 MO

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: No detectable HPRT activity;formerly GM00029

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: LNS

text: Lesch-nyhan syndrome

text: GM00377 male affected Lesch-nyhan syndrome sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Parkinson disease

text: 63 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse is ND00391

text: proband

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinsons panel: caucasian from the united states

characteristic: tag

text: PD

text: Parkinson disease

text: ND00388 male affected Parkinson disease sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Cystinosin

text: 7 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Conjunctiva and cornea contain typical cystinotic crystals;elevated white cell 1/2 cystine concentration;normal renal function at age 10;but by age 13 developed renal glomerular insufficiency;similarly affected brother;donor subject is a compound heterozygote: one allele has a G>A transition at nucleotide 753 in exon 7 of the CTNS gene 753G>A resulting in a substitution of a termination codon for tryptophan at codon 138 Trp138Ter (W138X) and a second allele has a splice site mutation at the +2 position of exon 11 IVS11+2 T>C resulting in the skipping of exon 11.

characteristic: description

text: proband

text: CTNS

text: T>C

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Cystinosis, late-onset juvenile or adolescent nephropathic type

text: CTNS

text: Cystinosin

text: GM00378 female affected Cystinosin sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: PD

text: 75 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse is ND00392

characteristic: family id

text: proband

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: PD

text: Parkinson disease

text: ND00389 male affected PD sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Cystinosin

text: 4 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Conjunctiva and cornea contain typical cystinotic crystals;elevated white cell 1/2 cystine concentration;normal renal function at age 10;but severe glomerular insufficiency by age 13;donor subject is a compound heterozygote: one allele has a G>A transition at nucleotide 753 in exon 7 of the CTNS gene 753G>A resulting in a substitution of a termination codon for tryptophan at codon 138 Trp138Ter (W138X) and a second allele has a splice site mutation at the +2 position of exon 11 IVS11+2 T>C resulting in the skipping of exon 11.

text: brother

text: CTNS

text: T>C

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: CTNS

text: Cystinosin

text: GM00379 male affected Cystinosin sample


text: Coriell

text: live

text: Generic

text: 65 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse of ND00388

text: spouse

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

text: Female

text: ND00391 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 35 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically normal with a history of two normal children and two children who expired before age 1 month;see GM01561 Lymphoid

text: parent

text: 46;XX;t(4;11)(4pter>4q23::11q11>11qter;11pter>11q11::4q23>4qter)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Translocated chromosome

characteristic: tag

text: GM00380 female unaffected Translocated chromosome sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 72 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND00389

characteristic: description

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND00392 female unaffected Population/convenience control sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Hyper igm type unknown

text: 3 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Hyper igm type unknown

text: GM00390 female affected Hyper igm type unknown sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Epilepsy

text: 55 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother is ND00614 and unaffected brother is ND00615

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Epilepsy

text: ND00399 female affected Epilepsy sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 1 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Myelomonocytic leukemia

text: 45;XX;der(13;22)(13qter>13q10::22q10>22qter)

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Leukemia, sub-acute

text: Translocated chromosome

text: GM00392 female unaffected Leukemia, sub-acute sample


text: Coriell

text: live

text: Generic

text: 37 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Affected mother is ND00054

text: son

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: ND00400 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 24 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected mother of GM00371

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Propionic acidemia

characteristic: tag

text: GM00403 female unaffected Propionic acidemia sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Parkinson disease

text: 72 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse is ND00402

characteristic: description

text: proband

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinsons panel: caucasian from the united states

text: PD

text: Parkinson disease

text: ND00401 male affected Parkinson disease sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 25 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected father of GM00371

characteristic: family id

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Propionic acidemia

text: GM00405 male unaffected Propionic acidemia sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 72 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND00401

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Population/convenience control

text: ND00402 female unaffected Population/convenience control sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: Niemann-pick disease type a

text: 2 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: 8% of normal sphingomyelinase activity & deficient phospholipase C activity in fibroblasts;type A;tested and negative for the three most common mutations in SMPD1;i.e.;R496L (607608.0001);L302P (607608.0010);and P330fsX382 (607608.0011).

text: Homo sapiens

text: Caucasian

text: Female

text: Niemann-pick disease type a

text: GM00406 female affected Niemann-pick disease type a sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: PD

text: 76 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected daughter is ND01024

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: PD

text: Dementia with lewy bodies

text: Parkinson disease

text: ND00410 female affected PD sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 5 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Skin biopsy;46;XX;5% of cells show random chromosome loss

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Apparently healthy non-fetal tissue

text: GM00408 female unaffected Apparently healthy non-fetal tissue sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 15 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Affected father is ND00415;unaffected mother is ND00414

characteristic: description

characteristic: family id

text: son

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: ND00411 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: 7 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: 46;XY;skin biopsy;4% of cells show random chromosome gain - 47;XY;+7;passage 10 at CCR

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Apparently healthy non-fetal tissue

text: GM00409 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 77 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected spouse of ND00413

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

characteristic: tag

text: ND00412 male unaffected Neurologically normal caucasian control panel sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Glucose-6-phosphate dehydrogenase

text: 19 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: G6PD deficiency;Panama type;46;XY

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Glucose-6-phosphate dehydrogenase

text: GM00412 male affected Glucose-6-phosphate dehydrogenase sample

characteristic: title


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 73 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND00412

characteristic: description

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: PD

text: Parkinson disease

text: ND00413 female affected Parkinson disease sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Hurler syndrome

text: 4 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Deficient Alpha-L-Iduronidase;Hurler syndrome

text: Homo sapiens

text: Caucasian

text: Male

text: Hurler syndrome

text: GM00415 male affected Hurler syndrome sample


text: Coriell

text: live

text: Generic

text: 47 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND00415;unaffected son is ND00411

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Population/convenience control

text: Neurologically normal caucasian control panel

text: ND00414 female unaffected Control panel for young onset parkinsons: unaffected individuals sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 42 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected mother of GM00594

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Homocystinuria

text: GM00417 female unaffected Homocystinuria sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 53 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse is ND00414;unaffected son is ND00411

text: proband

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Young onset parkinsons panel: caucasian subjects from north america

characteristic: tag

text: PD

text: Parkinson disease

text: ND00415 male affected Young onset parkinsons panel: affected individuals sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 9 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Passage 3 at CCR;clinically affected;donor subject is a compound heterozygote: one allele has an A>G transition at nucleotide 563 in exon 6 of the GALT gene (c.563A>G) resulting in the substitution of arginine for glutamine at codon 188 Gln188Arg (Q188R);and the second allele has a C>A transition at nucleotide 1030 in exon 10 (c.1030C>A) resulting in the substitution of lysine for glutamine at codon 344 Gln344Lys (Q344K)

text: GALT

text: Homo sapiens

text: Caucasian

text: Female

text: GALT

text: Galactosemia

text: GM00422 female affected Galactose-1-phosphate uridylyltransferase sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Parkinson disease

text: 72 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Affected daughter is ND00545

characteristic: description

characteristic: family id

text: proband

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinsons panel: caucasian from the united states

text: PD

text: Parkinson disease

text: ND00416 male affected Parkinson disease sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: GOUT

text: 32 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Severe gouty arthritis

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: GOUT

text: GM00432 male affected GOUT sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 50 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Family history includes an affected mother and sister;unaffected sister is ND00232.

text: brother

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinson disease

text: Young onset parkinsons disease: affected individuals

text: ND00429 male affected Parkinson disease sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 10 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Fibroblasts accumulate large amounts of intracellular gal-1-phosphate and galactitol;donor subject is homozygous for a C>T transition at nucleotide 404 in exon 5 of the GALT gene (c.404C>T) resulting in a substitution of leucine for serine at codon 135 Ser135Leu (S135L)

text: proband

text: GALT

text: Homo sapiens

text: Black

text: Female

text: GALT

characteristic: tag

text: Galactosemia

text: GM00433 female affected Galactose-1-phosphate uridylyltransferase sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 46 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected sister is ND00631;unaffected mother is ND00448

characteristic: description

text: proband

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

text: Female

text: PD

text: Parkinson disease

text: ND00447 female affected Young onset parkinsons panel: affected individuals sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 28 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: De Sanctis-Cacchione;XP3NE;30 to 50% of normal post UV unscheduled DNA synthesis;similarly affected sib

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: XPD

text: GM00434 male affected Xeroderma pigmentosum, complementation group d sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 63 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected mother of one affected daughter (ND00447) and one unaffected daughter (ND00631)

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: ND00448 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: XPD

text: 23 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: De Sanctis-Cacchione;XP2NE;30 to 50% of normal post UV unscheduled DNA synthesis;donor subject is homozygous for a C-to-T substitution at nucleotide 2047 in the ERCC2 cDNA (2047C>T) which results in a change of Arg-683 to Trp Arg683Trp (R683W) .

text: sister

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Xeroderma pigmentosum, complementation group d

text: XPD

text: Excision-repair: complementing defective in chinese hamster 2

text: GM00435 female affected XPD sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Parkinson disease

text: 57 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND00450

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: PD

characteristic: tag

text: Parkinson disease

text: ND00449 male affected Parkinson disease sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: XPD

text: 22 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: XP1NE;near normal post UV unscheduled DNA synthesis;no neoplasias;donor subject is a compound heterozygote for several mutations in the ERCC2 gene: one allele carries a G-to-A substitution at nucleotide 217 (217G>A) which results in a change of Gly-47 to Arg GLY47ARG (G47R);a second allele carries a C-to-G transversion at nucleotide position 1411 (1411C>G) which results in a change of Leu-461 to Val Leu461Val (L461V);as well as a splicing mutation resulting in the deletion of 45 bases (2224_2268) in the cDNA and the loss of amino acids 716_730 from the protein (DEL 716_730).

characteristic: description

text: 45 bp deletion (c.2224-2268)

text: Homo sapiens

text: Caucasian

text: Female

text: XPD

text: GM00436 female affected XPD sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 49 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND00449

characteristic: family id

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Population/convenience control

text: ND00450 female unaffected Population/convenience control sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 32 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Inverted chromosome

text: GM00437 female unaffected Inverted chromosome sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: PD

text: 69 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene.

text: proband

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinsons panel: caucasian from north america

text: Late onset parkinsons dna panel: affected individuals

text: PD

text: Parkinson disease

text: ND00451 male affected PD sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 46 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: 50% of normal transferase activity in erythrocytes;2 affected children;46;XY;clinically unaffected father of GM00440;00441;00438;and 01533;GALT gene mutation is Gln188Arg (Q188R) /+

text: father

text: GALT

text: Homo sapiens

text: Caucasian

text: Male

text: GALT

characteristic: tag

text: Galactosemia

text: GM00438 male unaffected Galactose-1-phosphate uridylyltransferase sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 65 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Control

text: Population/convenience control

text: ND00452 female unaffected Control sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 41 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: See GM01029A Lymph;50% of normal transferase activity in RBCs;2 affected children;46;X;t(X;3)(Xpter>Xq26::3p12>3pter;3qter >3p12::Xq26>Xqter);balanced;clinically unaffected mother of GM00440;00441;00442;and 01533B;GALT gene mutation is Gly188Arg (Q188R) /+

characteristic: description

text: mother

text: GALT

text: 46;X;t(X;3)(Xpter>Xq26::3p12>3pter;3qter>3p12::Xq26>Xqter)

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: GALT

text: Translocated chromosome

text: Galactose-1-phosphate uridylyltransferase

text: Galactosemia

text: GM00439 female unaffected Translocated chromosome sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 56 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected daughter of ND00379;sister of ND00385

text: daughter

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: ND00474 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 16 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: See GM01028A Lymphoid;no detectable transferase activity;46;XX/46;X;t(X;11) 92%/8%;balanced;GALT gene mutations: Gln188Arg (Q188R) / Gln188Arg (Q188R)

text: sister

text: GALT

characteristic: gene

text: 46;X;t(X;11) 4 /46;XX 46

characteristic: karyotype

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: GALT

text: Galactosemia

text: GM00440 female affected Galactose-1-phosphate uridylyltransferase sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Parkinson disease

text: 58 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND00500

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: PD

characteristic: tag

text: Parkinson disease

text: ND00499 male affected Parkinson disease sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 15 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: See GM02412B Lymphoid;no detectable transferase activity;46;XY;similarly affected sister;GALT gene mutations: Gln188Arg (Q188R) / Gln188Arg (Q188R)

text: proband

text: GALT

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: GALT

text: Galactosemia

text: GM00441 male affected Galactose-1-phosphate uridylyltransferase sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 55 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND00499

characteristic: description

text: spouse

text: Homo sapiens

text: Female

text: Control

text: Population/convenience control

text: Ninds repository hispanic control plate- coaims tested

text: ND00500 female unaffected Control sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 12 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Normal transferase activity in erythrocytes;46;XY;2 affected sibs;negative for Q188R;R333W;and N314D GALT gene mutations

text: brother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Apparently healthy non-fetal tissue

text: Galactosemia

text: GM00442 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Dementia with lewy bodies

text: 73 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse is ND00528

text: proband

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Dementia with lewy bodies

text: ND00501 female affected Dementia with lewy bodies sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Pyruvate carboxylase deficiency

text: 2 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Lactic acidosis;about 2% of normal pyruvate carboxylase activity;46;XY in leukocytes

text: Homo sapiens

text: Caucasian

text: Male

text: Pyruvate carboxylase deficiency

characteristic: tag

text: GM00444 male affected Pyruvate carboxylase deficiency sample


text: Coriell

text: live

text: Generic

text: Essential tremor-movement disorder

text: 45 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Daughter of GM15845;affected maternal cousins are GM15010;GM15009;and ND00139 (GM15844) who carries a triplication of the SNCA gene . Additional Family members included in the NINDS Repository: ND00062;ND00195;ND00196;ND00503 (ND00144);ND00138;ND

characteristic: family id

text: maternal first cousin

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Essential tremor-movement disorder

text: ND00502 female affected Essential tremor-movement disorder sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 26 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically normal

text: father

text: 46;XY;inv(9)(pter>p11::q13>p11:: q13>qter)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Inverted chromosome

text: GM00445 male unaffected Inverted chromosome sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 75 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND00501

characteristic: description

text: spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Neurologically normal caucasian control update of plate ndpt008

text: Population/convenience control

text: Ndpt079 neurologically normal caucasion control

text: Neurologically normal caucasian control panel

text: ND00528 male unaffected Population/convenience control sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 1 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Congenital malformations

text: proband

text: 46;XY;inv(9)(pter>p11::q13>p11:: q13>qter)pat

text: Homo sapiens

text: Caucasian

text: Male

text: Inverted chromosome

text: GM00447 male unaffected Inverted chromosome sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 75 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Affected brother is ND00793;unaffected daughter is ND01061

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Parkinsons panel: caucasian from north america

characteristic: tag

text: PD

text: Parkinson disease

text: ND00542 female affected Parkinson disease sample


text: Coriell

text: live

text: Generic

text: 1 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Congenital malformations

characteristic: family id

text: proband

text: 46;XY;inv(10)(pter>p11::q21>p11::q21> qter)pat

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Inverted chromosome

text: GM00448 male unaffected Inverted chromosome sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Parkinson disease

text: 49 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND00546

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: PD

text: Parkinson disease

text: ND00545 female affected Parkinson disease sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Fanconi anemia, complementation group c

text: 6 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;complementation group C;pancytopenia;classical symptoms;increased incidence of chromatid breaks and gaps following x-irradiation during G2;low-normal NAD+ levels in cells: 973 +/- 454 pmol/million cells (mean for normal cells = 1;140 +/- 304 pmol/million cells);donor subject is homozygous for a splice site mutation IVS4+4A>T in the FANCC gene in which a single base change in the fourth intronic base changes the sequence from a consensus A to T;resulting in deletion of the 111-bp exon 4;see GM13136 SV40 Transformed Fibroblast.

text: proband

text: FANCC

characteristic: gene

characteristic: karyotype

text: A>T

characteristic: mutation

text: IVS

text: Homo sapiens

text: Caucasian

text: Female

text: Fanconi anemia, complementation group c

text: FANCC

text: GM00449 female affected Fanconi anemia, complementation group c sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: 47 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND00545

characteristic: description

text: son-in-law

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Control

text: Population/convenience control

text: ND00546 male unaffected Control sample


text: Coriell

text: live

text: Generic

text: 33 YR

characteristic: age

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically normal;skin biopsy;same pt. as GM00451

characteristic: family id

text: proband

text: 46;XY;inv(9)(pter>p13::q13>p13:: q13>qter)

text: Homo sapiens

text: Caucasian

text: Male

text: Inverted chromosome

characteristic: tag

text: GM00450 male unaffected Inverted chromosome sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Parkinson disease

text: 63 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse is ND00592

text: proband

text: WILDTYPE for GLY2019

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: Young onset parkinsons disease: affected individuals

text: ND00591 male affected Parkinson disease sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 33 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Same patient as GM00450;testicular tissue fibroblast culture

text: proband

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Inverted chromosome

text: GM00451 male unaffected Inverted chromosome sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: 58 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND00591

characteristic: description

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND00592 female unaffected Neurologically normal caucasian control panel sample


text: Coriell

text: live

text: Generic

text: 22 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically normal

text: father

text: 46;XY;inv(10)(pter>p11::q21>p11::q21> qter)

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Inverted chromosome

text: GM00452 male unaffected Inverted chromosome sample


text: Coriell

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 56 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND00593 female affected Intracranial aneurysm - unruptured sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 1 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;about 1% of normal ADA activity.

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: T cell-negative, b cell-negative, nk cell-negative due to adenosine deaminase deficiency

text: GM00469 male affected Severe combined immunodeficiency autosomal recessive sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Intracranial aneurysm - unruptured

text: 53 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm unruptured: caucasian

text: Intracranial aneurysm - unruptured

text: ND00594 female affected Intracranial aneurysm - unruptured sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Sandhoff disease

text: 1 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Deficient hexosaminidase A and B;< 1% of normal fibroblast preB-chain mRNA;Hex B gene shows no gross abnormalities;Mexican

text: MEXICAN

characteristic: ethnicity

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Sandhoff disease

text: GM00470 female affected Sandhoff disease sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: 56 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: ND00604 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 14 FW

characteristic: age

text: Amniotic fluid-derived cell line

text: NIGMS Human Genetic Cell Repository

text: 46;XY;-18;+der(18)t(13;18)(18pter>18q 21.3 or q23::13q12 or q14>13qter);unbalanced;phenotypically female

characteristic: description

text: 46;XY;der(18)(18pter>18q21.3::13q12>13qter) or der(18)(18pter>18q23::13q14>13qter)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Translocated chromosome

text: GM00477 female unaffected Translocated chromosome sample


text: Coriell

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 53 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: brother

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Subarachnoid hemorrhage

text: ND00605 male affected Subarachnoid hemorrhage sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 35 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: 4 spontaneous abortions;father has t(14;15)

text: 45;XX;der(14;15)(14qter>q10::q10>15qter)pat

text: Homo sapiens

text: Caucasian

text: Female

text: Translocated chromosome

characteristic: tag

text: GM00479 female unaffected Translocated chromosome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 47 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: ND00606 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample