characteristic: External Id

text: Coriell

text: live

text: Generic

text: 27 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: See GM01058 Fibro;HLA type A11;Bw15/A2;B12;Neutral alpha-glucosidase C phenotype=1;fibroblasts have 38% of normal argininosuccinate synthetase activity

characteristic: family id

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Citrullinemia

text: Classic

text: GM01206 male unaffected Citrullinemia sample


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: Parkinson disease

tag: attribute

text: 58 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected daughter is ND01319

characteristic: description

text: proband

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: PD

characteristic: tag

text: Parkinson disease

text: Young onset parkinsons disease: affected individuals

text: ND01318 female affected Parkinson disease sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 5 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: HLA type A11;Bw15/A28;Bw35;possible heterozygote

characteristic: family id

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Citrullinemia

text: Classic

text: GM01207 female unaffected Citrullinemia sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 17 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected daughter of ND01318

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: ND01319 female 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

characteristic: NCBI submission package

text: 27 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Two affected children (twins);clinically unaffected father of GM01209;01210;and 01211

text: DOMINICAN REPUBLICAN

characteristic: ethnicity

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Galactosemia

text: GM01208 male unaffected Galactosemia sample


text: Coriell

text: live

text: Generic

text: 19 YR

text: B-Lymphocyte

text: NINDS Repository

text: Son of ND01176;affected maternal grandfather is ND01175;unaffected maternal grandmother is ND01205

characteristic: description

text: grandson

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: ND01321 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Galactosemia

text: 9 MO

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;monozygotic twin (single placenta) of GM01210

text: DOMINICAN REPUBLICAN

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Galactosemia

characteristic: tag

text: Monozygotic twin pairs

text: GM01209 male affected Galactosemia sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Parkinson disease

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 spouse is ND01323

characteristic: family id

text: proband

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: ND01322 male affected Parkinson disease sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Monozygotic twin pairs

text: 9 MO

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;monozygotic twin (single placenta) of GM01209;no detectable transferase activity;donor subject is homozygous for a G>C transition at nucleotide 292 of the GALT gene (c.292G>C) resulting in the substitution of histidine for aspartic acid at codon 98 Asp98His (D98H)

text: DOMINICAN REPUBLICAN

text: twin

text: GALT

text: Homo sapiens

text: Caucasian

text: Male

text: GALT

text: Galactose-1-phosphate uridylyltransferase

text: Galactosemia

text: Monozygotic twin pairs

text: GM01210 male affected Monozygotic twin pairs sample


text: Coriell

text: live

text: Generic

text: 59 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 ND01322

characteristic: description

text: spouse

text: WILDTYPE for GLY2019

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Population/convenience control

text: ND01323 female unaffected Neurologically normal caucasian control panel sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 4 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: 50% of normal transferase activity;clinically unaffected;2 affected sibs

text: DOMINICAN REPUBLICAN

characteristic: ethnicity

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Galactosemia

characteristic: tag

text: GM01211 male unaffected Galactosemia sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Epilepsy

text: 8 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected mother is ND01325;unaffected father is ND01326

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy generalized: caucasian

text: Epilepsy

text: ND01324 female affected Epilepsy sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 29 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: 50% of normal transferase activity;2 affected children (twins);clinically unaffected mother of GM01209;01210;and 01211;donor subject is heterozygous for a G>C transition at nucleotide 292 of the GALT gene (c.292G>C) resulting in the substitution of histidine for aspartic acid at codon 98 Asp98His (D98H)

text: DOMINICAN REPUBLICAN

text: mother

text: GALT

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: GALT

text: Galactosemia

text: GM01212 female unaffected Galactose-1-phosphate uridylyltransferase sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 48 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Mother of ND01324;unaffected spouse is ND01326

characteristic: description

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND01325 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 61 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Diagnosed at age 34;more resistant to UV light than other XP cell lines;high DNA repair capacity;complements groups A;C;and D;possible candidate for group E

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: GM01213 female affected Xeroderma pigmentosum: complementation group undetermined sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 45 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Father of ND01324;unaffected spouse is ND01325

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: ND01326 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Fucosidosis

text: 18 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Type II;positive family history;alphaL-fucosidase deficiency in serum and leukocytes

text: Homo sapiens

text: Caucasian

text: Male

text: Fucosidosis

text: GM01214 male affected Fucosidosis sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 26 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND01330 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 1 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Partial trisomy of 6q15q27;peculiar facies;short and stubby fingers;bilateral clinodactyly of 5th finger;bilateral simian creases but left is atypical

text: proband

characteristic: karyotype

text: Homo sapiens

text: Black

text: Male

text: Chromosome insertion

text: GM01221 male unaffected Chromosome insertion sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 50 YR

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Intracranial aneurysm unruptured: caucasian

text: Intracranial aneurysm - unruptured

text: ND01337 male affected Intracranial aneurysm - unruptured sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 23 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Mother and half-brother have same balanced insertion;normal phenotype

characteristic: description

text: mother

text: 46;XX;ins(5;6)(5pter>5q33::6q15>6q25:: 5q33>5qter;6pter>6q15::6q25>6qter)

text: Homo sapiens

text: Black

text: Female

text: Chromosome insertion

text: GM01222 female unaffected Chromosome insertion sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 50 YR

text: B-Lymphocyte

text: NINDS Repository

text: Affected mother is ND01060

text: daughter

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: ND01346 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 3 MO

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Multiple congenital anomalies

text: 46;XX;+der(13)(13pter>13q34::18q11>18qter)pat;46;XX;der(13)(13pter->13q34::18q12->18qter)pat.arr 13q34(109145920-114126487)x1;18q12.1q12.3(25696105-76116029)x3

text: Homo sapiens

text: Caucasian

text: Female

text: Translocated chromosome

characteristic: tag

text: GM01224 female unaffected Translocated chromosome sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Parkinson disease

text: 76 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse is ND01354

text: proband

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Parkinsons panel: caucasian from the united states

text: PD

text: Parkinson disease

text: ND01353 female affected Parkinson disease sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Translocated chromosome

text: 3 MO

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Asiatic Indian;de novo;has multiple congenital anomalies

text: 46;XX;t(2;20)(2qter>2p21::20p13>20pter;20qter>20p13::2p21>2pter)

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Asiatic Indian

text: Female

text: Translocated chromosome

text: GM01225 female affected Translocated chromosome sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 80 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 of ND01353

characteristic: description

characteristic: family id

text: spouse

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Population/convenience control

text: ND01354 male unaffected Neurologically normal caucasian control panel sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 28 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Diagnosed at age 13;30-60% of normal post UV light induced unscheduled DNA synthesis with normal strand incision

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

characteristic: tag

text: GM01227 male affected Xeroderma pigmentosum: complementation group undetermined sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Parkinson disease

text: 76 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected daughter is ND02586

text: proband

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: ND01355 male affected Parkinson disease sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 12 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Positive family history;3 affected uncles;46;XY;fra(X) was not identified in 100 cells examined;formerly GM00642

text: proband

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: GM01228 male affected Mental retardation, x-linked nonspecific type 1 sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Parkinson disease

text: 53 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Male

text: Parkinson disease

text: ND01359 male affected Parkinson disease sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Translocated chromosome

text: 3 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Multiple congenital anomalies and mental retardation

characteristic: description

text: CUBAN

characteristic: ethnicity

text: proband

text: 46;XX;der(1)(1qter->1p36::2q32->2qter)pat.arr 1p36.33(51585-218557)x1;2q32.3q37.3(192559365-242738117)x3;6p22.3(17757812-18029601)x3;8p23.1(7241688-7825360)x3;46;XX;der(1)(1qter>1p36:: 2q31>2qter)pat

text: Homo sapiens

text: Black

characteristic: race

text: Female

characteristic: sex

text: Translocated chromosome

text: GM01229 female affected Translocated chromosome sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 53 YR

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Female

text: Population/convenience control

characteristic: tag

text: ND01360 female unaffected Ninds repository hispanic control plate- coaims tested sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 44 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically normal;in situ hybridization studies indicate that the elastin locus is translocated to the 1p+ chromosome

text: father

text: 46;XY;t(1;2)(1qter>1p36::2q31>2qter;2pter>2q31::1p36>1pter)

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Black

text: Male

text: Translocated chromosome

text: GM01230 male unaffected Translocated chromosome sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Epilepsy

text: 13 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother is ND01362;unaffected father is ND01453

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy generalized: caucasian

text: Epilepsy

text: ND01361 female affected Epilepsy sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Retinoblastoma

text: 2 YR

text: Tumor-derived cell line

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Y79;tumor tissue culture;grows in suspension;passage 9 at CCR

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Rb1 osteosarcoma, retinoblastoma-related included

text: Retinoblastoma

text: GM01232 female affected Retinoblastoma sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 39 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother of ND01361;unaffected spouse is ND01453

text: mother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: ND01362 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: Incontinentia pigmenti

text: 3 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: 46;XX;increased chromosome breakage in lymphocytes;normal (4-7%) in fibroblasts;clinically affected

text: Homo sapiens

text: Caucasian

text: Female

text: Incontinentia pigmenti

characteristic: tag

text: IP

text: GM01236 female affected Incontinentia pigmenti sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 60 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Subarachnoid hemorrhage

text: ND01365 female affected Subarachnoid hemorrhage sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 33 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: MODY;diagnosed at age 16;see GM01122 Fibroblast;mother of GM07986 and 08759;daughter of GM10036

text: sister

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: GM01240 female affected Maturity-onset diabetes of the young type i sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 67 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Intracranial aneurysm - unruptured

text: ND01366 male affected Intracranial aneurysm - unruptured sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 37 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Third generation of MOD;HLA type A3;A10;B13;B12;see GM01486 Fibroblast

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: GM01241 male affected Diabetes mellitus: maturity onset diabetes - 222100 or 125850 sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Parkinson disease

text: 60 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: same subject ND30116

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Parkinson disease

text: ND01369 female affected Parkinson disease sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Menkes syndrome

text: 5 DA

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: See GM01057 Fibroblast;HLA type A9;A10;B13;B18;fibroblasts show increased copper concentration;proband is GM00220 Fibroblast

text: brother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Menkes syndrome

text: GM01245 male affected Menkes syndrome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Parkinson disease

text: 72 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected daughter is ND01371

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinsons panel: caucasian from the united states

characteristic: tag

text: PD

text: Parkinson disease

text: ND01370 male affected Parkinson disease sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 46 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: MODY;diagnosed at age 29;see GM01219 Fibroblast;father of GM07974;GM08072;GM01410;GM08071;and GM10211;son of GM10036;spouse of GM07973;donor subject has a missense polymorphism of the HNF4A (TCF14) gene: a C>T transition at nucleotide 609 in exon 4 (609C>T) resulting in a threonine to isoleucine change at codon 130 Thr130Ile (T130I)

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: GM01246 male affected Maturity-onset diabetes of the young type i sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 56 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: son-in-law

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Population/convenience control

text: Neurologically normal caucasian control panel

text: ND01372 male unaffected Dna control panel for late onset parkinsons: unaffected individuals sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 29 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: MODY;diagnosed at age 11;see GM01237 Fibroblast;produces IgG3;6 affected and 4 unaffected sibs;father of GM08007 and 10018;son of GM10036;spouse of GM10017A;46;XY

text: proband

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: GM01247 male affected Maturity-onset diabetes of the young type i sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 72 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND01377 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 23 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Husband of GM01252;father of GM01253;phenotypically normal

characteristic: description

text: father

text: Homo sapiens

text: Black

characteristic: race

text: Male

text: Xyy syndrome

text: GM01250 male unaffected Aneuploid chromosome number - non-trisomic sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Intracranial aneurysm - unruptured

text: 72 YR

text: B-Lymphocyte

text: NINDS Repository

text: aunt

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Intracranial aneurysm unruptured: caucasian

text: Intracranial aneurysm - unruptured

text: ND01379 female affected Intracranial aneurysm - unruptured sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: 4 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;mother is GM01252;maternal half-brother is GM01253

text: maternal half-brother

characteristic: gene

text: 46;XY;inv(9)(pter>p11::q1?>p11::q1?> qter)mat

text: ARG296CYS AND SER486THR

characteristic: mutation

text: DEL

text: Homo sapiens

text: Black

text: Male

text: Inverted chromosome

characteristic: tag

text: GM01251 male unaffected Inverted chromosome sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 70 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Intracranial aneurysm - unruptured

text: ND01380 male affected Intracranial aneurysm - unruptured sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 22 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Phenotypically normal;sons are GM01251 and GM01253 Fibroblast

characteristic: description

characteristic: family id

text: mother

text: 46;XX;inv(3)(pter>p25::q25>p25::q25> qter);inv(9)(pter>p11::q1?>p11::q1?>qter)

characteristic: karyotype

text: Homo sapiens

text: Black

text: Female

text: Inverted chromosome

text: GM01252 female unaffected Inverted chromosome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Intracranial aneurysm - unruptured

text: 68 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Intracranial aneurysm - unruptured

text: ND01381 female affected Intracranial aneurysm - unruptured sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 4 MO

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Parents are GM01250 and GM01252 Fibroblast;maternal half-brother is GM01251 Fibroblast;multiple congenital anomalies;patent urachus;malrotation of midgut with annular pancreas;heart murmur;cryptorchidism;and bilateral extra digit

text: proband

text: Homo sapiens

text: Black

text: Male

text: Inverted chromosome

characteristic: tag

text: GM01253 male unaffected Inverted chromosome sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Intracranial rupture-status undefined

text: 49 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial rupture-status undefined

text: ND01382 female affected Intracranial rupture-status undefined sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Hurler-scheie syndrome

text: 4 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Deficient Alpha-L-Iduronidase;similarly affected brother;Hurler/Scheie syndrome

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Hurler-scheie syndrome

text: GM01254 male affected Hurler-scheie syndrome sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Parkinson disease

text: 76 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected spouse is ND01399

characteristic: description

text: TURKISH

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: ND01398 male affected Parkinson disease sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Hurler-scheie syndrome

text: 10 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Deficient Alpha-L-Iduronidase;Hurler/ Scheie syndrome

characteristic: family id

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Hurler-scheie syndrome

text: GM01255 male affected Hurler-scheie syndrome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 68 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND01398

text: TURKISH

text: spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Population/convenience control

text: ND01399 female unaffected Neurologically normal caucasian control panel sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Alpha-l-iduronidase

text: 12 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Deficient Alpha-L-Iduronidase;Scheie syndrome;compound heterozygote: a G>A transition in intron 5;in position -7 from exon 6 (IVS5AS-7G>A) and TGG>TAG at nucleotide 1293 in exon 9 of the IDUA gene Trp402Ter (W402X)

text: IDUA

characteristic: gene

characteristic: mutation

text: G>A

text: Homo sapiens

text: Caucasian

text: Male

text: IDUA

characteristic: tag

text: Alpha-l-iduronidase

text: Scheie syndrome

text: GM01256 male affected Alpha-l-iduronidase sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Parkinson disease

text: 69 YR

characteristic: cell line

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 ND01405

text: proband

text: WILDTYPE for GLY2019

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Parkinsons panel: caucasian from the united states

text: PD

text: Parkinson disease

text: ND01404 male affected Parkinson disease sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Hurler syndrome

text: 1 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Deficient Alpha-L-Iduronidase;LatinAmerican;Hurler syndrome

characteristic: description

text: LATIN AMERICAN

characteristic: ethnicity

text: Homo sapiens

text: Caucasian

text: Female

text: Hurler syndrome

text: GM01257 female affected Hurler syndrome sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 60 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse of ND01404

characteristic: family id

text: spouse

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Pacific Islander

characteristic: race

text: Female

characteristic: sex

text: Control

text: Population/convenience control

text: Ninds repository hispanic control plate- coaims tested

text: ND01405 female unaffected Control sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Mucopolysaccharidosis type ii

text: 2 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Excessive mucopolysaccharide accumulation correctable by Hunter factor

text: Homo sapiens

text: Caucasian

text: Male

text: Mucopolysaccharidosis type ii

characteristic: tag

text: GM01258 male affected Mucopolysaccharidosis type ii sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 59 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: ND01410 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Mucopolysaccharidosis type iva

text: 14 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically atypical;culture grows poorly;deficient N-acetylgalactosamine 6sulfate sulfatase;beta-galactosidase;& beta-glucuronidase

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Mucopolysaccharidosis type iva

text: GM01259 female affected Mucopolysaccharidosis type iva sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Subarachnoid hemorrhage

text: 69 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Subarachnoid hemorrhage

text: Subarachnoid hemorrhage, caucasian from north america

text: ND01411 male affected Subarachnoid hemorrhage sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Gaucher disease type ii

text: 11 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Splenomegaly;opisthotonos: expired at age 1;3% of control fibro glucocerebrosidase activity;donor subject is a compound heterozygote: one allele has a T>C transition at nucleotide 1448 in exon 10 of the GBA gene (1448T>C) resulting in the substitution of proline for leucine at codon 444 Leu444Pro (L444P);the second allele has a C>G transversion at nucleotide 1361 in exon 9 (1361C>G) resulting in the substitution of arginine for proline at codon 415 Pro415Arg (P415R) codons are numbered from the first codon of the mature protein;the cDNA is numbered from the first initiating AUG

characteristic: description

text: GBA

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: GBA

text: Glucosidase acid beta

text: Gaucher disease type ii

text: GM01260 female affected Gaucher disease type ii sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: 38 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: sister

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: ND01415 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 13 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: HLA type A1;A2;Bw15(B18);18p- syndrome

text: 45;XX;der(13;18)(13qter>13q10::18q10>18qter)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: 18p- syndrome

characteristic: tag

text: Translocated chromosome

text: GM01261 female unaffected 18p- syndrome sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 71 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND01416 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 6 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: XP1KC;extreme photosensitivity;photophobia;and rhinorrhea;negative family history

characteristic: description

text: Homo sapiens

text: Caucasian

text: Female

text: XPD

text: GM01295 female affected Xeroderma pigmentosum, complementation group d sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 71 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: father

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: ND01417 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Translocated chromosome

text: 47 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;in addition to t(13;15) 84% of cells show 21p+ and 10q- which could be a t(10;21)(q24;p12)

text: 45;XX;der(13;15)(13qter>13q10::15q10>15qter);45;XX;t(13;15)(13qter>cen>15qter)

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Translocated chromosome

text: GM01296 female affected Translocated chromosome sample


text: Coriell

text: live

text: Generic

text: Intracranial rupture-status undefined

text: 53 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial rupture-status undefined

text: ND01418 female affected Intracranial rupture-status undefined sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Hyperglycinemia

text: 2 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected

text: Homo sapiens

text: Caucasian

text: Female

text: Hyperglycinemia

characteristic: tag

text: Isolated nonketotic type i

text: GM01301 female affected Hyperglycinemia sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 42 YR

text: B-Lymphocyte

text: NINDS Repository

text: half-sister

text: Homo sapiens

text: Caucasian

text: Female

text: ND01419 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: Teratoma cell line

text: 31 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Passage 8 at IMR;PGM1=1;PGM3=2-1;PGD=A;alpha GLU=1;chromosome polymorphisms: 13=-/-;14=+/+;21=-/-;right ovarian teratoma;same patient as GM01307

text: proband

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Teratoma cell line

text: GM01306 female affected Teratoma cell line sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 84 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse is ND01424

text: proband

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Late onset parkinsons dna panel: affected individuals

text: PD

text: Alzheimer disease

text: Parkinson disease

text: ND01423 male affected Parkinsons panel: caucasian from north america sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: Teratoma cell line

text: 31 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Passage 5 at IMR;PGM1=1;PGM3=2-1;PGD=A;chromosome polymorphisms: 13=+/-;14=+/-;21=+/-;fallopian tube tissue;10% of cells show random chromosome loss;same patient as GM01306A

characteristic: description

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Teratoma cell line

text: GM01307 female affected Teratoma cell line sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 76 YR

characteristic: age

characteristic: cell line

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 ND01423

text: spouse

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Population/convenience control

text: ND01424 female unaffected Neurologically normal caucasian control panel sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Fanconi anemia, complementation group a

text: 12 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Complementation group A;lymphocytes showed multiple chromosome breaks;clinically affected;high frequency of spontaneous chromosomal aberrations and extreme sensitivity to cell killing by mytomycin-C;see GM06914A SV40 Transformed Fibroblast

text: proband

text: Homo sapiens

text: Black

text: Male

text: Fanconi anemia, complementation group a

characteristic: tag

text: FANCA

text: GM01309 male affected Fanconi anemia, complementation group a sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Parkinson disease

text: 43 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse is ND01427;unaffected daughter is ND01428;unaffected mother is ND01429;affected father is ND04159

text: proband

characteristic: gene

text: WILDTYPE for GLY2019

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: PD

text: Parkinson disease

text: ND01426 female affected Parkinson disease sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: 51 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: See GM00967D Fibroblast;6% of cells show random chromosome loss;same as GM13336 only 6 years younger

text: proband

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Apparently healthy non-fetal tissue

text: GM01310 male unaffected Apparently healthy non-fetal tissue sample

characteristic: title


characteristic: External Id

text: Coriell

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 ND01426;unaffected daughter is ND01428

characteristic: description

characteristic: family id

text: spouse

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Population/convenience control

text: ND01427 male unaffected Population/convenience control sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 68 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Bone marrow aspirate;HLA type A10;A11 (A3);B12;same patient as GM01312A;derived from a patient with an IgA2 variety myeloma

text: proband

text: Homo sapiens

text: Black

text: Male

characteristic: sex

text: Al included

text: GM01311 male affected Myeloma, multiple amyloidosis, primary included sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

text: 18 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected daughter of ND01426 (affected) and ND01427 (unaffected);affected maternal grandfather is ND04159

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND01428 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: 68 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Peripheral blood;HLA type A10;A11(A3);B12;same patient as GM01311A;derived from a patient with an IgA2 variety myeloma;secretes IgG in vitro;EBNA positive;no reaction with OKT10

text: proband

text: Homo sapiens

characteristic: organism

text: Black

text: Male

text: Al included

text: GM01312 male affected Myeloma, multiple amyloidosis, primary included sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 67 YR

text: B-Lymphocyte

text: NINDS Repository

text: Affected spouse is ND04159;affected daughter is ND01426;unaffected granddaughter is ND01428

characteristic: description

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND01429 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 2 DA

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Meningomyelocele;phenotypically female;G6PD type AB;both X chromosomes are active and early-replicating

text: 68;XX 1 /69;XXY 49;69;XXY

characteristic: karyotype

text: Homo sapiens

text: Black

characteristic: race

text: Triploid chromosome number

text: GM01322 unknown unaffected Triploid chromosome number sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Parkinson disease

text: 58 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 ND01431

characteristic: family id

text: proband

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Parkinsons panel: caucasian from the united states

text: PD

text: Parkinson disease

text: ND01430 female affected Parkinson disease sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Alpha-l-iduronidase

text: 58 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Deficient Alpha-L-Iduronidase;Scheie syndrome;compound heterozygote: a G>A transition in intron 5;in position -7 from exon 6 (IVS5AS-7G>A) and TGG>TAG at nucleotide 1293 in exon 9 of the IDUA gene Trp402Ter (W402X)

text: IDUA

text: G>A

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: IDUA

text: Alpha-l-iduronidase

text: Scheie syndrome

text: GM01323 male affected Alpha-l-iduronidase sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 41 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected daughter is ND01430

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND01431 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: CF

text: 18 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Severe;first diagnosed at age 7;expired at age 18;46;XX;donor subject is homozygous for the deltaF508 deletion mutation (Phe508DEL)

characteristic: description

text: CFTR

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: CF

text: Cystic fibrosis

text: Cystic fibrosis transmembrane conductance regulator

text: CFTR

text: GM01348 female affected CF sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 50 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: ND01437 female 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: Cutis laxa

text: 12 DA

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: 46;X;Yp+;clinically affected

text: Homo sapiens

text: Caucasian

text: Male

text: Cutis laxa

text: GM01353 male affected Cutis laxa sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Epilepsy

text: 42 YR

text: B-Lymphocyte

text: NINDS Repository

text: Paternal first cousin has grand mal seizures

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Epilepsy

text: Epilepsy, focal: caucasian

text: ND01438 female affected Epilepsy sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Familial hypercholesterolemia

text: 38 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Elevated plasma cholesterol;no xanthomas;mother of GM01355A and GM01386

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: FHC

characteristic: tag

text: Familial hypercholesterolemia

text: GM01354 female affected Familial hypercholesterolemia sample


text: Coriell

text: live

text: Generic

text: 66 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother of ND01438

characteristic: description

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND01439 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Familial hypercholesterolemia

text: 13 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: 25 to 40% of normal LDL receptor activity;possibly a severe heterozygote;mild homozygote;or double heterozygote

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: FHC

text: Familial hypercholesterolemia

text: GM01355 female affected Familial hypercholesterolemia sample

characteristic: title


text: Coriell

text: live

text: Generic

text: Epilepsy

text: 22 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: THIRD COUSIN HAS SEIZURES.

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy generalized: caucasian

text: Epilepsy

text: ND01440 female affected Epilepsy sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 26 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Phenotypically normal;history of repeated abortions;one phenotypically normal son with same translocation

text: 46;XX;t(1;7)(1qter>1p34::7p13>7pter;7qter>7p13::1p34>1pter)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Translocated chromosome

text: GM01356 female unaffected Translocated chromosome sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 45 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: daughter epilepsy;2nd cousin seizures

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

text: ND01441 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 4 WK

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: 47;XY;+18;47;XY;+18.arr 18p11.32q23(1542-76116029)x3

text: Homo sapiens

text: Caucasian

text: Male

text: Aneuploid chromosome number - trisomy

text: Aneuploid chromosome number - trisomy 18

text: GM01359 male unaffected Aneuploid chromosome number - trisomy sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 51 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

characteristic: tag

text: ND01442 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Mucopolysaccharidosis type iva

text: 43 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Variant;3% of normal N-acetylgalactosamine 6-sulfate sulfatase activity;normal B-galactosidase and B-glucuronidase

characteristic: description

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Mucopolysaccharidosis type iva

text: GM01361 male affected Mucopolysaccharidosis type iva sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 57 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: ND01443 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Lesch-nyhan syndrome

text: 10 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Fibroblasts nonviable in HAT medium

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: LNS

text: Lesch-nyhan syndrome

text: GM01362 male affected Lesch-nyhan syndrome sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 43 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected father of ND01361;unaffected spouse is ND01362

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND01453 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

characteristic: NCBI submission package

text: Hydroxymethylbilane synthase

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Deficient uroporphyrinogen-I synthetase;active AIP;similarly affected sister;donor subject is heterozygous for a G>C transversion at nucleotide 33 in exon 1 of the HMBS gene (33G>C) resulting in the substitution of alanine for alanine at codon 11 Ala11Ala (A11A)

text: proband

text: HMBS

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Hydroxymethylbilane synthase

text: HMBS

text: Porphyria, acute intermittent

text: GM01363 female affected Hydroxymethylbilane synthase sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 46 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: brother

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

characteristic: tag

text: ND01456 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 7 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: See GM01366 Lymphoid;1 previously affected brother expired at age 14 days;classical symptoms;bilateral optic atrophy and mental retardation;treated with diet therapy;absent BCKAD complex E2 subunit;donor subject is homozygous for a G>T transversion in exon 6 of the DBT (E2) gene producing a premature stop codon at glu-163 Glu163Ter (E163X)

characteristic: description

text: proband

text: DBT

text: Homo sapiens

characteristic: organism

text: Black

text: Female

text: DBT

text: Maple syrup urine disease (msud) type ii

text: GM01364 female affected Dihydrolipoamide branched-chain transacylase sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 73 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: sister

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: ND01457 female 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

characteristic: NCBI submission package

text: 7 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: See GM01364 Fibro;HLA type A2(A9);B8;B12;1 affected brother expired at age 14 days;deficient BCKAD activity;classical symptoms;bilateral optic atrophy and mental retardation;on diet therapy;absent E2 subunit;donor subject is homozygous for a G>T transversion in exon 6 of the DBT (E2) gene producing a premature stop codon at glu-163 Glu163Ter (E163X)

text: proband

text: DBT

characteristic: gene

text: Homo sapiens

text: Black

text: Female

text: DBT

text: GM01366 female affected Dihydrolipoamide branched-chain transacylase sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 44 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: half-sister

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: ND01458 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Hemoglobin f

text: 15 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Well;but has 100% fetal hemoglobin;shows substantial deletion of delta and beta globin genes on both chromosomes 11;46;XY;patient is doubly heterozygous for both forms of deletion type HPFH found in blacks (HPFH 1 and 2)

characteristic: description

characteristic: karyotype

text: Homo sapiens

text: Black

text: Male

text: Hereditary persistence of pancellular

characteristic: tag

text: Hemoglobin f

text: GM01368 male affected Hemoglobin f sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 56 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Intracranial aneurysm unruptured: caucasian

text: Intracranial aneurysm - unruptured

text: ND01460 female affected Intracranial aneurysm - unruptured sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Homocystinuria

text: 13 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Deficient cystathionine synthetase activity

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Homocystinuria

text: GM01374 female affected Homocystinuria sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 67 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: ND01461 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Confirmed heterozygote;clinically unaffected mother of GM01374

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Homocystinuria

text: GM01375 female unaffected Homocystinuria sample


text: Coriell

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 63 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND01462 female affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

text: Generic

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Confirmed heterozygote;clinically unaffected father of GM01374

characteristic: description

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Homocystinuria

characteristic: tag

text: GM01376 male unaffected Homocystinuria sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 50 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Subarachnoid hemorrhage

text: Subarachnoid hemorrhage, caucasian from north america

text: ND01463 female affected Subarachnoid hemorrhage sample


text: Coriell

text: live

text: Generic

text: Cutis laxa

text: 8 WK

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Redundant skin on arms and thighs;hyperextensible MP and IP joints

text: Homo sapiens

characteristic: organism

text: Black

text: Male

text: Cutis laxa

text: GM01377 male affected Cutis laxa sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Intracranial aneurysm - unruptured

text: 67 YR

text: B-Lymphocyte

text: NINDS Repository

text: great aunt

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND01472 female affected Intracranial aneurysm - unruptured sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 12 FW

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: 46;XY;lung biopsy;12 cm crown-rump length;same patient as GM00010B;6% of cells show random loss of one chromosome

text: PUERTO RICAN

characteristic: ethnicity

characteristic: family id

text: proband

characteristic: karyotype

text: Homo sapiens

text: Black

text: Male

text: Apparently healthy fetal tissue

text: GM01380 male unaffected Apparently healthy fetal tissue sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 67 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected spouse of ND01492

text: spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Population/convenience control

text: ND01491 female unaffected Neurologically normal caucasian control panel sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Familial hypercholesterolemia

text: 38 YR

characteristic: age

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Elevated plasma cholesterol;no xanthomas;father of GM01355A and GM01386

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: FHC

text: Familial hypercholesterolemia

text: GM01385 male affected Familial hypercholesterolemia sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Parkinson disease

text: 70 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND01491

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinsons panel: caucasian from the united states

characteristic: tag

text: PD

text: Parkinson disease

text: ND01492 male affected Parkinson disease sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 17 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Normal plasma cholesterol;46;XY;14% of cells are tetraploid at passage 5

text: brother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: FHC

text: Apparently healthy non-fetal tissue

text: Familial hypercholesterolemia

text: GM01386 male unaffected Apparently healthy non-fetal tissue sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 75 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND01497

characteristic: family id

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: ND01496 male unaffected Neurologically normal caucasian control panel sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 14 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Result of Adj-2 segregation;see also GM01388 Lymphoid;profoundly retarded;clinical features of trisomy 9p syndrome

text: proband

text: 46;XX;+der(9)(9pter>9q21.2:: 13q12.1>13qter)mat;-13

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Translocated chromosome

text: GM01387 female unaffected Translocated chromosome sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Parkinson disease

text: 73 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected spouse is ND01496

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: PD

text: Parkinson disease

text: ND01497 female affected Parkinson disease sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 14 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Profoundly retarded;clinical features of trisomy 9p syndrome;see GM01387 Fibroblast

text: proband

text: 46;XX;+der(9)(9pter->9q21.3::13q12.1->13qter)mat;-13.arr 9p24.3q21.31(36586-80712809)x3;46;XX;+der(9)(9pter>9q21.2:: 13q12.1>13qter)mat;-13;46;XX;der(9)t(9;13)(9pter>9q21.2:: 13q12.1>13qter)mat;-13

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Translocated chromosome

text: GM01388 female unaffected Translocated chromosome sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: PD

text: 67 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected daughter is ND01499

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: PD

text: Parkinson disease

text: ND01498 female affected PD sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Dna damage-binding protein 2

text: 21 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Diagnosed at age 16 years;complementation analysis in heterodikaryons negative when crossed with XPE (XP23PV);unscheduled DNA synthesis 60% of normal level;GM01646 is a lymphoblastoid cell line from the same individual;donor subject is a compound heterozygote: one allele carries a T>C transition at nucleotide 1224 (1224T>C) of the DDB2 gene;resulting in a missense mutation at codon 350 Leu350Pro (L350P);the second allele carries a 3 bp deletion (del 1220-1222) resulting in the deletion of ASN349 (N349del).

text: proband

characteristic: gene

text: del ASN349

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Xeroderma pigmentosum, complementation group e

text: Dna damage-binding protein 2

text: GM01389 female affected Dna damage-binding protein 2 sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: 42 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected daughter of ND01498

characteristic: family id

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: ND01499 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 3 MO

characteristic: age

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;pyloric stenosis;absence of thymic shadow on chest x-ray;anterior ends of the right 4th and 6th ribs are flared;mild to moderate shortening of the long bones;especially the femurs;the iliac and ischial bones are short and the acetabular roofs are flattened;no radiographic evidence of metaphyseal chondrodysplasia;died at 2 months of age;principal diagnoses as determined by autopsy include: combined immunodeficiency with metaphyseal dysostosis (including lymphoid hypoplasia of thymus;lymph node;spleen;and gastrointestinal tract);graft versus host reaction (including severe hypoplasia of bone marrow;reticuloendothelial erythrophagocytosis;and slight histiocytic infiltration of gastrointestinal tract;lymph nodes;and bone marrow);sepsis;candidiasis of gastrointestinal tract and tracheobronchial tree;hypertrophy of pyloric musculature with recent pyloromyotomy;and multifocal acute hemorrhagic bronchopneumonia;growth retardation;enzyme phenotypes: G6PD=B;Peptidases A;C;and D=1;deficient ADA activity;donor subject is a compound heterozygote for mutations in the ADA gene: one allele has a G>A transition at nucleotide 646 in exon 7 of the ADA gene 646G>A resulting in a substitution of arginine for glycine at codon 216 Gly216Arg(G216R);the other allele had a 5-nucleotide deletion (del nt1050-54;GAAGA);found by direct sequence analysis of exon 10 (PMID: 8401541).

text: proband

text: ADA

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Severe combined immunodeficiency autosomal recessive

text: Adenosine deaminase

text: ADA

text: GM01390 male affected T cell-negative, b cell-negative, nk cell-negative due to adenosine deaminase deficiency sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 77 YR

text: B-Lymphocyte

text: NINDS Repository

text: Affected spouse not in NINDS collection

characteristic: description

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Population/convenience control

text: ND01504 male unaffected Neurologically normal caucasian control panel sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Hurler syndrome

text: 9 MO

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Deficient Alpha-L-Iduronidase;Hurler syndrome

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Hurler syndrome

characteristic: tag

text: GM01391 female affected Hurler syndrome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 54 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND01506

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Population/convenience control

text: ND01505 male unaffected Population/convenience control sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: 24 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected mother of child;GM01391;with Hurler syndrome

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Hurler syndrome

text: GM01392 female unaffected Hurler syndrome sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 54 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected spouse is ND01505

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Young onset parkinsons dna panel: affected individuals

text: PD

text: Parkinson disease

text: ND01506 female affected Parkinson disease sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 24 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically unaffected father of child;GM01391;with Hurler syndrome

text: father

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Hurler syndrome

text: GM01393 male unaffected Hurler syndrome sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 54 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected son of ND01507;unaffected sister is ND01508

characteristic: description

text: son

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: ND01509 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: 3 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Mental retardation;no speech and questionable hearing;clinically normal father's leukocytes show 46;XY;t(10;16) (q26;q22)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Translocated chromosome

text: GM01396 male unaffected Translocated chromosome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 57 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected sister is ND01512

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: tag

text: PD

text: Parkinson disease

text: ND01511 female affected Parkinson disease sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: 20 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Mental retardation and ear anomalies;1st cousin once removed to proband

text: maternal first cousin

text: 47;XY;+der(21)(21pter->21q21::10q26->10qter)mat.arr 10q26.3(134129978-135356682)x3;21q11.2q21.3(13488060-26881613)x3;47;XY;+der(21)(21pter>21q21::10q26>10qter)mat

text: Homo sapiens

text: Black

text: Male

text: Translocated chromosome

text: GM01399 male unaffected Translocated chromosome sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 35 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected sister of ND01511

characteristic: family id

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: ND01512 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Androgen receptor

text: 20 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: 46;XY;phenotypically female

characteristic: description

text: Homo sapiens

text: Black

characteristic: race

text: Female

characteristic: sex

text: AR

text: Androgen receptor

text: GM01404 female affected Androgen receptor sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: PD

text: 74 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND01519

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Parkinsons panel: caucasian from the united states

text: PD

text: Parkinson disease

text: ND01515 female affected PD sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Orotic acid crystals in urine;megaloblastic anemia;normal B12 and folic acid levels;patient responded to oral uridine;culture is moder growth inhibition in uridine deficient medium;severe growth inhibition when adenosine is added to uridine-def medium

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: GM01406 female affected Oroticaciduria types i or ii - 258900 or 258920 sample


text: Coriell

text: live

text: Generic

text: 76 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND01515

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Neurologically normal caucasian control update of plate ndpt008

characteristic: tag

text: Population/convenience control

text: Ndpt079 neurologically normal caucasion control

text: Neurologically normal caucasian control panel

text: ND01519 male unaffected Population/convenience control sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: Retinoblastoma

text: 8 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Bilateral;left eye conjunctiva fibroblast culture

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Rb1 osteosarcoma, retinoblastoma-related included

text: Retinoblastoma

text: GM01408 female affected Retinoblastoma sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Parkinson disease

text: 66 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND01523

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: ND01522 male affected Parkinson disease sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 26 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Daughter with the unbalanced translocation has mental retardation and multiple anomalies;passage 5 at CCR;slow growing culture

text: mother

text: 46;X;t(X;21)(Xpter>Xq11::21p11> 21pter;21qter>21p11::Xq11>Xqter)

characteristic: karyotype

text: Homo sapiens

text: Black

text: Female

text: Translocated chromosome

text: GM01411 female unaffected Translocated chromosome sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 66 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected spouse of ND01522

characteristic: family id

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND01523 female unaffected Neurologically normal caucasian control panel sample


text: Coriell

text: live

text: Generic

text: Translocated chromosome

text: 1 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinical features of Down syndrome

characteristic: description

text: proband

text: 46;XX;-10;+der(10)t(10;21)(10pter> 10q26::21q21>21qter)mat;46;XX;-10;+der(10)t(10;21)(10pter> 10q26::21q2105>21qter)mat;46;XX;der(10)(10pter> 10q26::21q21>21qter)mat

text: Homo sapiens

text: Black

characteristic: race

text: Female

characteristic: sex

text: Trisomy 21

text: Translocated chromosome

text: GM01413 female affected Translocated chromosome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: PD

text: 70 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinsons panel: caucasian from the united states

text: PD

text: Parkinson disease

text: ND01524 male affected PD sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 28 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Turner syndrome;in blood leukocytes and fibroblasts abnormal X is late replicating

text: proband

text: Homo sapiens

characteristic: organism

text: Black

text: Female

text: Translocated chromosome

characteristic: tag

text: Turner syndrome

text: GM01414 female unaffected Translocated chromosome sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: 61 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND01524

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND01525 female unaffected Neurologically normal caucasian control panel sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 35 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Developmental delay;moderate retardation;delayed language development;abnormal dermatoglyphics;bilateral epicanthal folds;small mandible;bilateral dermato-lipomas;lens opacities;high arched palate;mildly hypotonic;normal menses;see GM01416B Lymphoid

text: proband

text: 48;XXX;t(X;6)(Xpter>Xq24::6q27>6qter;6pter>6q27::Xq24>Xqter) 26 /48;XXXX 22 /47;XXX 1 /48;XX;del(X)(pter>q24::);t(X;6)(Xpter>Xq24::6q27>6qter;6pter>6q27::Xq24>Xqter) 1;48;XXXX

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Xxxx syndrome

text: GM01415 female unaffected Aneuploid chromosome number - non-trisomic sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 75 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected spouse is ND01527

characteristic: description

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: PD

text: Parkinson disease

text: ND01526 male affected Parkinson disease sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 27 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Developmental delay;moderate retardation;delayed language development;abnormal dermatoglyphics;bilateral epicanthal folds;small mandible;bilateral dermato-lipomas;lens opacities;high arched palate;mildly hypotonic;normal menses;see GM01415E Fibroblast.

text: proband

text: 48;XXXX;48;XXXX.arr Xp22.33q28(108464-154835536)x4;48;XXXX.rev ish enh(X)

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Xxxx syndrome

text: Copy number variation (cnv) reference panel

text: GM01416 female unaffected Aneuploid chromosome number - non-trisomic sample


text: Coriell

text: live

text: Generic

text: 76 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND01526

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Population/convenience control

characteristic: tag

text: ND01527 female unaffected Neurologically normal caucasian control panel sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: 53 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Phenotypically normal

text: 46;XY;t(1;6)(1pter>1q42::6q21>6qter;6pter>6q21::1q42>1qter)

text: Homo sapiens

text: Black

text: Male

text: Translocated chromosome

text: GM01421 male unaffected Translocated chromosome sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 59 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND01534

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: ND01528 male unaffected Neurologically normal caucasian control panel sample


text: Coriell

text: live

text: Generic

text: TD

text: 2 WK

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Severely dwarfed;extremely short extremities;small hands and feet;large head;distended abdomen;normal fibroblast alkaline phosphatase activity;negative family history;donor subject has an A>T transversion at nucleotide 1111 in exon 9 of the FGFR3 gene (1111A>T) resulting in a substitution of cysteine for serine at codon 371 Ser371Cys (S371C)

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Black

text: Female

text: TD

text: Thanatophoric dysplasia

text: Fibroblast growth factor receptor 3

text: GM01422 female affected TD sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 59 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse is ND01528

characteristic: description

characteristic: family id

text: proband

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Young onset parkinsons dna panel: affected individuals

text: PD

text: Parkinson disease

text: ND01534 female affected Parkinson disease sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Mucopolysaccharidosis type iiib

text: 1 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Deficient N-acetyl-alpha-D glucosaminidase;similarly affected brother;donor subject is homozygous for a G>A transversion at nucleotide 457 of the NAGLU gene (457G>A) resulting in the substitution of lysine for glutamic acid at codon 153 Glu153Lys (E153K)

text: proband

text: NAGLU

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: sex

text: NAGLU

text: Mucopolysaccharidosis type iiib

text: N-acetylglucosaminidase, alpha-

text: GM01426 female affected Mucopolysaccharidosis type iiib sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: 41 YR

text: B-Lymphocyte

text: NINDS Repository

text: RACE UNKNOWN FOR ENTIRE FAMILY

characteristic: ethnicity

text: daughter

text: Homo sapiens

text: Female

characteristic: tag

text: ND01538 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: Cockayne syndrome type b

text: 8 YR

characteristic: age

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Fibroblasts have markedly decreased post UV light colony-forming ability;patient is CS7SE;complementation group B

text: Homo sapiens

text: Black

text: Female

text: CSB

text: Cockayne syndrome type b

text: GM01428 female affected Cockayne syndrome type b sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 34 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: ND01540 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 55 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Mosaic;16% of fibroblasts do not have additional 10;in blood leukocytes normal X was late replicating;normal phenotype;fibroblasts have 164% of normal HK1 activity and 122% of normal GOT1 activity

characteristic: description

characteristic: family id

text: mother

text: 46;X;t(X;9)(Xpter>Xq13::9q34>9qter;9pter>9q34::Xq13>Xqter)/47;X;+10;t(X;9)(q13;q34)

characteristic: karyotype

text: Homo sapiens

text: Black

characteristic: race

text: Female

text: Translocated chromosome

text: GM01429 female unaffected Translocated chromosome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: PD

text: 82 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND01556

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

characteristic: sex

text: Parkinsons panel: caucasian from the united states

text: PD

text: Parkinson disease

text: ND01555 male affected PD sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: 24 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Normal fibroblast alkaline phosphatase activity;clinically affected

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: Non-lethal

text: GM01436 male affected Osteogenesis imperfecta: genetics uncertain sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 80 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND01555;parent with Parkinson s disease

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND01556 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 3 MO

characteristic: age

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Tissue from left testes;lymphocytes showed 45;X/46;X;iso(Y);80%/20%;coarctation of aorta;cardiomegaly;and Meckel's diverticulum

text: Homo sapiens

text: Caucasian

text: Male

text: GM01441 male unaffected Aneuploid chromosome number - non-trisomic sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 75 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: ND01569 male unaffected Neurologically normal caucasian control panel sample


text: Coriell

text: live

text: Generic

text: 31 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Culture produces ciliary dyskinesis factor;metachromasia negative;Hungarian Polish-Russian descent;2 affected children

characteristic: description

characteristic: family id

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: CF

text: Cystic fibrosis

text: GM01442 male unaffected Cystic fibrosis sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 75 YR

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Population/convenience control

text: ND01570 female unaffected Neurologically normal caucasian control panel sample


text: Coriell

text: live

text: Generic

text: 28 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Culture produces ciliary dyskinesis factor;metachromasia negative;Polish-Russian descent;2 affected children

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: CF

text: Cystic fibrosis

text: GM01443 female unaffected Cystic fibrosis sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 81 YR

text: B-Lymphocyte

text: NINDS Repository

text: Brother who has had a stroke is not in the NINDS collection.

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: ND01571 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: CF

text: 3 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Culture produces ciliary dyskinesis factor;metachromasia negative;1 similarly affected sib;Jewish descent;1 allele has the F508 deletion mutation

text: proband

text: CFTR

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: CF

characteristic: tag

text: Cystic fibrosis

text: Cystic fibrosis transmembrane conductance regulator

text: CFTR

text: GM01445 female affected CF sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: 95 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND01585

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: Neurologically normal caucasian control panel

text: ND01584 male unaffected Dna control panel for late onset parkinsons: unaffected individuals sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: HLA type A2;3;Bw35;Bw17;proband not in Repository;clinically unaffected

characteristic: description

text: Homo sapiens

text: Caucasian

text: Female

text: Homocystinuria

text: GM01446 female unaffected Homocystinuria sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 94 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND01584

characteristic: family id

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Population/convenience control

text: ND01585 female unaffected Dna control panel for late onset parkinsons: unaffected individuals sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: HLA type A1;A10;B7;(Bw16);proband not in Repository;clinically unaffected

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Homocystinuria

text: GM01447 female unaffected Homocystinuria sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 42 YR

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

text: More than one race

text: Male

text: Intracranial aneurysm - unruptured

characteristic: tag

text: ND01594 male affected Intracranial aneurysm - unruptured sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: 18 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Elevated serum cholesterol;affected father and sister;donor subject has one allele which has a 3 bp deletion at nucleotide 652 in exon 4 of the LDLR gene (652delGGT) resulting in the deletion of Gly197 Gly197del (G197del)

text: proband

text: LDLR

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Low density lipoprotein receptor

text: Hypercholesterolemia autosomal dominant

text: LDLR

text: GM01448 female unaffected Hypercholesterolemia autosomal dominant sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 81 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND01596 female affected Intracranial aneurysm - unruptured sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Abetalipoproteinemia

text: 18 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Steatorrhea as an infant and child;absent apolipoprotein B;no chylomicrons;VLDL;or LDL in circulation;consanguineous parents;affected brother died at age 9;maintained on vitamin E and K supplementation;no neurologic disease

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Abetalipoproteinemia

text: ABL

text: GM01453 female affected Abetalipoproteinemia sample