text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Subarachnoid hemorrhage

text: 59 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: maternal first cousin

text: Homo sapiens

text: Caucasian

text: Male

text: Subarachnoid hemorrhage

text: Subarachnoid hemorrhage, caucasian from north america

text: ND03210 male affected Subarachnoid hemorrhage sample


status: PUBLIC

characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Wilms tumor 1

tag: attribute

text: 14 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Optic nerve hypoplasia;unilateral microtia (left);postaxial polydactyly of the hands;short stature;distinctive facial appearance with minor dysmorphic features;upslanting palpebral fissures;Wilms tumor of right kidney removed surgically at age 30 months;seizures;clitoromegaly;rugae on the labia majora;pubertal delay;recurrent pancreatitis;adrenal insufficiency;severe developmental delay: nonverbal and non-ambulatory;these parents terminated a subsequent pregnancy of a male fetus which showed multiple abnormalities by ultrasound at 27 weeks gestation: left cleft palate;hypertelorism and rhizomelic limb shortening;decreased hearing;tooth enamel dysplasia;abnormal breathing pattern while asleep;pooling of bile in the upper GI tract;strabismus;blepharophimosis;sparse eyebrows and no lower eye lashes;cranial imaging suggests absent olfactory nerves and bulbs;diffuse atrophy of the cerebral cortex and mild to moderate dilatation of the lateral and 3rd ventricles;adenoidectomy;numerous respiratory infections;maternal aunt had a history of infertility and miscarriages;negative for WT1 and GLI3 gene mutations;also negative for MELAS;MERRF and NARP mitochondrial mutations

characteristic: description

text: JEWISH/DUTCH

characteristic: ethnicity

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

characteristic: sex

characteristic: tag

text: Wilms tumor 1

text: GM23228 female affected Wilms tumor 1 sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Subarachnoid hemorrhage

text: 55 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Subarachnoid hemorrhage

text: ND03211 female affected Subarachnoid hemorrhage sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 3 MO

text: Stem cell

text: NIGMS Human Genetic Cell Repository

text: Induced pluripotent stem cell line derived from GM01390 Fibroblast by reprogramming with lentiviral constructs encoding OCT4 (also known as POU5F1);SOX2;Klf4 and cMyc. ADA mutations found in fibroblasts used for reprogramming were verified in the iPSCs -- cells were compound heterozygous for mutations in the ADA gene: one allele had 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: (Park et al. Cell 134:877-86;2008).

text: proband

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

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

text: GM23232 male affected Severe combined immunodeficiency autosomal recessive sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Epilepsy

text: 14 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother is ND03213;unaffected father is ND03214

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy generalized: caucasian

text: Epilepsy

text: ND03212 female affected Epilepsy sample


text: Coriell

text: live

text: Generic

text: Spinal muscular atrophy i

text: 3 YR

text: Stem cell

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Induced pluripotent stem cell line derived from GM03813 Fibroblast by reprogramming with lentiviral constructs encoding OCT4 (also known as POU5F1);SOX2;NANOG and LIN28 (Ebert et al. Nature 457:277-80;2009)

characteristic: description

text: proband

characteristic: gene

text: 45;X 1 /47;XYY 1 /46;XY 48;47;XYY 2 /46;XY 48;47;XYY 8 /46;XY 17 .ish Yp11.3(SRYx2);Xp11.1q11.1(DXZ1x1) 2/20;47;XYY 9 /46;XY 16

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Spinal muscular atrophy i

text: GM23240 male affected Spinal muscular atrophy i sample


text: Coriell

text: live

text: Generic

text: 41 YR

text: B-Lymphocyte

text: NINDS Repository

text: Affected daughter is ND03212;unaffected spouse is ND03214

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

characteristic: sex

characteristic: tag

text: ND03213 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Stem cell

text: NIGMS Human Genetic Cell Repository

text: Induced pluripotent stem cell line derived from GM03814 Fibroblast by reprogramming with lentiviral constructs encoding OCT4 (also known as POU5F1);SOX2;NANOG and LIN28 (Ebert et al. Nature 457:277-80;2009).

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Spinal muscular atrophy i

text: GM23241 female unaffected Spinal muscular atrophy i sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 40 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Affected daughter is ND03212;unaffected spouse is ND03213

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND03214 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 55 YR

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Participant #1 (hu43860C) in the Personal Genome Project: http://www.personalgenomes.org Matching lymphoblast culture from this same subject is GM20431

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Personal genome project

text: GM23248 male unaffected Personal genome project sample


text: Coriell

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 53 YR

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

characteristic: organism

text: Asian

characteristic: race

text: Male

characteristic: sex

text: Intracranial aneurysm - unruptured

text: ND03217 male affected Intracranial aneurysm - unruptured sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 44 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Participant #5 (hu9385BA) in the Personal Genome Project: http://www.personalgenomes.org Matching lymphoblast culture from this same subject is GM21687

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Personal genome project

characteristic: tag

text: GM23250 male unaffected Personal genome project sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Intracranial aneurysm - unruptured

text: 59 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND03236 female affected Intracranial aneurysm - unruptured sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 50 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Participant #9 (hu034DB1) in the Personal Genome Project: http://www.personalgenomes.org Matching lymphoblast culture from this same subject is GM21833

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Personal genome project

text: GM23251 female unaffected Personal genome project sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Intracranial rupture-status undefined

text: 47 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: nephew

text: Homo sapiens

text: Caucasian

text: Male

text: Intracranial rupture-status undefined

text: ND03237 male affected Intracranial rupture-status undefined sample


text: Coriell

text: live

text: Generic

text: CF

text: 18 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;donor subject is a compound heterozygote: one allele has an I507 Ile507del deletion mutation in exon 10 and the second allele has a F508 deletion mutation (Phe508del)

text: CFTR

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Hispanic/Latino

text: Male

text: CF

text: Cystic fibrosis

text: Cystic fibrosis transmembrane conductance regulator

text: CFTR

text: GM23254 male affected CF sample


text: Coriell

text: live

text: Generic

text: Epilepsy

text: 11 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected mother is ND03242;unaffected father is ND03243

characteristic: description

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Epilepsy generalized: caucasian

text: Epilepsy

text: ND03241 female affected Epilepsy sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: Dystrophia myotonica 1

text: 59 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;positive family history;onset of symptoms at age 18 years;trouble with hand grip and stiffness;difficulty making a fist;cannot speak clearly;trouble swallowing;facial weakness;ankle weakness;trouble breathing;baldness

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

characteristic: tag

text: Dystrophia myotonica 1

text: GM23256 male affected Dystrophia myotonica 1 sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 45 YR

text: B-Lymphocyte

text: NINDS Repository

text: Affected daughter is ND03241;unaffected spouse is ND03243

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND03242 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Dystrophia myotonica 1

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;onset of symptoms at age 59 years;cataracts;baldness

text: Homo sapiens

text: Caucasian

text: Male

text: Dystrophia myotonica 1

text: GM23258 male affected Dystrophia myotonica 1 sample


text: Coriell

text: live

text: Generic

text: 52 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Affected daughter is ND03241;unaffected spouse is ND03242

characteristic: family id

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND03243 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: Dystrophia myotonica 2

text: 66 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;onset of symptoms at age 47 years;began using cane at age 57;walker and then wheelchair at 58;trouble with hand stiffness;difficulty making a fist;ankle weakness;difficulty rising from floor or chair;cataracts

characteristic: description

text: GERMAN

characteristic: ethnicity

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Dystrophia myotonica 2

text: GM23259 female affected Dystrophia myotonica 2 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Epilepsy

text: 10 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother is ND03245;unaffected father is ND03246

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Epilepsy generalized: caucasian

characteristic: tag

text: Epilepsy

text: ND03244 female affected Epilepsy sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Muscular dystrophy: becker type

text: 6 YR

text: Stem cell

text: NIGMS Human Genetic Cell Repository

text: Induced pluripotent stem cell line derived from GM04981 Fibroblast by reprogramming with lentiviral constructs encoding OCT4 (also known as POU5F1);SOX2;Klf4 and cMyc (Park et al. Cell 134:877-86;2008)

text: proband

text: 46;XY 18

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: BMD

text: Muscular dystrophy: becker type

text: GM23262 male affected Muscular dystrophy: becker type 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: 46 YR

text: B-Lymphocyte

text: NINDS Repository

text: Affected daughter is ND03244;unaffected spouse is ND03246

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND03245 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 57 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Subarachnoid hemorrhage

text: ND03266 female affected Subarachnoid hemorrhage sample


text: Coriell

text: live

text: Generic

text: Epilepsy

text: 12 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother is ND03274;unaffected sister is ND03275

characteristic: description

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Epilepsy generalized: caucasian

text: Epilepsy

text: ND03273 female affected Epilepsy sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 5 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Autistic

text: 46;XX.arr 15q11.2 q13.1(21192943-26725478)x3

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Duplicated chromosome

text: GM23264 female affected Chromosome 15q11-q13 duplication syndrome sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 40 YR

text: B-Lymphocyte

text: NINDS Repository

text: Affected daughter is ND03273;unaffected daughter is ND03275

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND03274 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Dystrophia myotonica 1

text: 56 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;two affected sons;onset of symptoms at age 53 years;hand stiffness;difficulty making a fist;ankle weakness;difficulty rising from floor or chair;donor subject has trinucleotide repeat expansions (CTG)in the 3-prime untranslated region of the dystrophia myotonica protein kinase gene (DMPK): allele 1 = 60 and allele 2 = 12

text: ENGLISH/ITALIAN

characteristic: ethnicity

text: Homo sapiens

text: Caucasian

text: Male

text: Dystrophia myotonica 1

text: GM23265 male affected Dystrophia myotonica 1 sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 15 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Affected sister is ND03273;unaffected mother is ND03274

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: ND03275 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 16 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;mental retardation;behavioral problems (agression and self-injurious behavior like skin picking);obesity;mild type E brachydactyly;developmental delay;motor delay;language impairment;sleeping difficulties;decreased sensitivity to pain;short stature;broad face;upslanting eyes;broad;not upturned nose;small chin;narrow palpebral fissures;constipation;hypermobility;bitemporal narrowing;dental anomalies;donor subject is heterozygous for a de novo 65 bp deletion in intron 5 of the HDAC4 gene (490+56_121del65) predicted to alter the splicing of exons 5 and 6

characteristic: description

characteristic: gene

text: 65-BP DEL

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: BDMR

text: Histone deacetylase 4

text: Brachydactyly-mental retardation syndrome

text: GM23277 female affected HDAC4 sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Epilepsy

text: 38 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother is ND03277;unaffected father is ND03278

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Epilepsy

text: Epilepsy, focal: caucasian

text: ND03276 female affected Epilepsy sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Dystrophia myotonica 2

text: 56 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;onset of symptoms at around age 12 years;leg brace at age 54;walks with cane;began using CPAP at age 50;hand stiffness;difficulty making a fist;difficulty swallowing;ankle weakness;difficulty rising from floor or chair;trouble breathing

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: Dystrophia myotonica 2

text: GM23278 male affected Dystrophia myotonica 2 sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 70 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Affected daughter is ND03276;unaffected spouse is ND03278

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND03277 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 36 YR

text: Stem cell

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Induced pluripotent stem cell line made from facial dermal fibroblasts;retroviruses used contained human Oct3/4;Sox2;Klf4;and c-Myc. Prior to ordering this iPSC line;for-profit institutions must contact iPS Academia Japan;Inc. to obtain a license: iPS Academia Japan;Inc. 1F Green Center Bldg.;123;Kameya-cho Kamigyo-ku Kyoto;602-0854;JAPAN Attn.: License Department Phone: +81-75-256-8582;Fax: +81-75-256-6211 E-mail: license@ips-ac.co.jp

characteristic: description

text: proband

text: 46;XX 25

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Apparently healthy non-fetal tissue

text: GM23279 female unaffected Apparently healthy non-fetal tissue sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 74 YR

text: B-Lymphocyte

text: NINDS Repository

text: Affected daughter is ND03276;unaffected spouse is ND03277

characteristic: family id

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: ND03278 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 36 YR

text: Stem cell

text: NIGMS Human Genetic Cell Repository

text: Induced pluripotent stem cell line made from facial dermal fibroblasts;retroviruses used contained human Oct3/4;Sox2;and Klf4. Prior to ordering this iPSC line;for-profit institutions must contact iPS Academia Japan;Inc. to obtain a license: iPS Academia Japan;Inc. 1F Green Center Bldg.;123;Kameya-cho Kamigyo-ku Kyoto;602-0854;JAPAN Attn.: License Department Phone: +81-75-256-8582;Fax: +81-75-256-6211 E-mail: license@ips-ac.co.jp

text: proband

text: 46;XX 25

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Apparently healthy non-fetal tissue

text: GM23280 female unaffected Apparently healthy non-fetal tissue sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Epilepsy

text: 2 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

characteristic: tag

text: ND03285 female affected Epilepsy sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: RTT

text: 8 YR

text: Stem cell

text: NIGMS Human Genetic Cell Repository

text: Induced pluripotent stem cell line made from GM11270 Fibroblast;clinically affected;classical symptoms;normal lysosomal enzymes;46;XX in PBL;donor carries a missense mutation;916C>T Arg306Cys (R306C);in the gene encoding methyl-CpG binding protein 2 (MECP2)

text: proband

text: 46;XX 25

text: Homo sapiens

text: Caucasian

text: Female

text: RTT

text: Methyl-cpg-binding protein 2

text: Rett syndrome

text: GM23298 female affected RTT sample


text: Coriell

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 60 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Pacific Islander

text: Female

text: Subarachnoid hemorrhage

text: ND03292 female affected Subarachnoid hemorrhage sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: Dystrophia myotonica 1

text: 65 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;positive family history (daughter and two male cousins);onset of symptoms at age 48 years;began using CPAP at age 54;hand stiffness;problems making a fist;facial weakness;problems with ankles;problems rising from a sitting position;cataracts;baldness;donor subject has one normal CTG repeat allele and one allele with a CTG repeat size of approximately 90-100 in the DMPK gene

characteristic: description

text: ENGLISH/DUTCH

characteristic: ethnicity

text: Homo sapiens

text: Caucasian

text: Male

text: Dystrophia myotonica 1

text: GM23299 male affected Dystrophia myotonica 1 sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Epilepsy

text: 54 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected son is ND03926

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Epilepsy

text: Epilepsy, focal: caucasian

text: ND03295 female affected Epilepsy sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Dystrophia myotonica 1

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;onset of symptoms at age 29 years;hand stiffness;problems making a fist;problems speaking;difficulty swallowing;facial weakness;problems with ankles;problems rising from a sitting position;cataracts;baldness;donor subject has one normal CTG repeat allele and one allele with a CTG repeat size of approximately 150-160 in the DMPK gene

text: DMPK

characteristic: gene

text: (CTG)n EXPANSION

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Dystrophia myotonica 1

text: GM23300 male affected Dystrophia myotonica 1 sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 33 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected son of ND03925

text: son

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: ND03296 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 47 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically normal father of an affected child;proband not in Repository;donor subject is heterozygous for an A>G transition at nucleotide 5314 in exon 34 of the RYR1 gene (c.5314A>G) resulting in the substitution of glycine for arginine at codon 1772 Arg1772Gly (R1772G)

characteristic: description

text: ITALIAN/IRISH/GERMAN

characteristic: ethnicity

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Ryanodine receptor 1

text: Central core disease of muscle

text: GM23304 male unaffected Central core disease of muscle sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 54 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: sister

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND03306 female affected Intracranial aneurysm - unruptured sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 34 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal mother of an affected child (GM23308)

text: mother

text: Homo sapiens

text: Korean

characteristic: race

text: Female

characteristic: sex

text: UCMD

text: Ullrich congenital muscular dystrophy

text: GM23305 female unaffected Ullrich congenital muscular dystrophy sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Subarachnoid hemorrhage

text: 54 YR

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

text: More than one race

text: Male

text: Subarachnoid hemorrhage

text: ND03307 male affected Subarachnoid hemorrhage sample


text: Coriell

text: live

text: Generic

text: 39 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal father of an affected child (GM23308);see GM23307 Fibroblast

text: father

text: Homo sapiens

text: Korean

text: Male

text: UCMD

characteristic: tag

text: Ullrich congenital muscular dystrophy

text: GM23306 male unaffected Ullrich congenital muscular dystrophy sample

characteristic: title


text: Coriell

text: live

text: Generic

text: Intracranial rupture-status undefined

text: 59 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Intracranial rupture-status undefined

text: ND03323 male affected Intracranial rupture-status undefined sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 39 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically normal father of an affected child (GM23308);see GM23306 Lymphoid

characteristic: description

text: father

text: Homo sapiens

text: Korean

text: Male

text: UCMD

text: Ullrich congenital muscular dystrophy

text: GM23307 male unaffected Ullrich congenital muscular dystrophy sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 63 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Subarachnoid hemorrhage

text: Subarachnoid hemorrhage, caucasian from north america

text: ND03324 female affected Subarachnoid hemorrhage sample


text: Coriell

text: live

text: Generic

text: UCMD

text: 4 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;onset of symptoms began before 2 years of age;abnormal creatine kinase;diagnosis confirmed by muscle biopsy;mildly underdeveloped brain by MRI/CT scan;motor skills are relatively normal;but needs supervision to prevent falling when walking;donor subject is a compound heterozygote: one allele has a C>G transversion at nucleotide 856-3 in intron 6 of the COL6A2 gene (IVS6-3C>G) resulting in the disruption of the normal splice acceptor site between intron 6 and exon 7;the second allel has an A>T transversion at nucleotide 2386 in exon 26 resulting in a premature stop at codon 796 Lys796Ter (K796X)

characteristic: family id

text: proband

characteristic: gene

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Korean

text: Female

text: Collagen type vi alpha-2

text: UCMD

text: Ullrich congenital muscular dystrophy

text: GM23308 female affected UCMD sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Intracranial aneurysm - unruptured

text: 54 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Intracranial aneurysm unruptured: caucasian

text: Intracranial aneurysm - unruptured

text: ND03325 female affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 33 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically normal mother of an affected child (GM23311);donor subject is heterozygous for a 2 bp deletion in exon 14 of the LAMA2 gene (2049_2050delAG)

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: Laminin, alpha-2

text: Muscular dystrophy, congenital merosin-deficient, 1a

text: GM23309 female unaffected MDC1A sample


text: Coriell

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 62 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: maternal aunt

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND03326 female affected Intracranial aneurysm - unruptured sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 39 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically normal father of an affected child (GM23311);donor subject is heterozygous for a C>T transition at nucleotide 7732 in exon 55 (7732C>T) resulting in a premature stop at codon 2578 Arg2578Ter (R2578X)

characteristic: description

text: GERMAN

characteristic: ethnicity

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Laminin, alpha-2

text: GM23310 male unaffected MDC1A sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 67 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Subarachnoid hemorrhage

text: ND03327 female affected Subarachnoid hemorrhage sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 3 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;symptom onset before 2 years of age;elevated creatine kinase (200-2;000 IU/L);diagnosis confirmed by muscle imaging and biopsy;abnormal white matter in brain by MRI/CT scan;head held up without assistance;turned in bed by age three years;no other milestones have been achieved;night time respiratory support;donor subject is a compound heterozygote: maternal allele has a 2 bp deletion in exon 14 of the LAMA2 gene (2049_2050delAG);the paternal allele has a C>T transition at nucleotide 7732 in exon 55 (7732C>T) resulting in a premature stop at codon 2578 Arg2578Ter (R2578X)

text: proband

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Laminin, alpha-2

text: GM23311 female affected MDC1A sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Parkinson disease

text: 61 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Affected brother is ND03334;unaffected brother is and ND03335;unaffected sons are ND03336 and ND03337.

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: PD

characteristic: tag

text: Parkinson disease

text: ND03333 male affected Parkinson disease sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Bethlem myopathy

text: 18 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;positive family history: paternal grandmother;father;paternal aunt and two first cousins also affected;met all motor function milestones;can hold head up and sit unsupported for more than one hour;can walk unassisted both indoors and out;can climb stairs and run;donor subject is heterozygous for an A>G transition at nucleotide 1688 in exon 5 of the COL6A3 gene resulting in the substitution of glycine for aspartic acid at codon 563 Asp563Gly (D563G)

text: GERMAN/FINNISH

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Bethlem myopathy

text: GM23324 female affected Bethlem myopathy sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Parkinson disease

text: 60 YR

text: B-Lymphocyte

text: NINDS Repository

text: Affected brother is ND03333;unaffected brother is and ND03335;unaffected nephews are ND03336 and ND03337.

characteristic: description

characteristic: family id

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: ND03334 male affected Parkinson disease sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically normal mother of an affected child (GM23327)

text: IRISH

characteristic: ethnicity

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: GM23325 female unaffected Muscular dystrophy, congenital merosin-deficient, 1a sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 50 YR

text: B-Lymphocyte

text: NINDS Repository

text: Affected brothers are ND03333 and ND03334;unaffected nephews are ND03336 and ND03337

text: brother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: ND03335 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically normal father of an affected child (GM23327)

text: POLISH

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: GM23326 male unaffected Muscular dystrophy, congenital merosin-deficient, 1a sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 27 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected son of ND03333;brother of ND03337;nephew of ND03334 and ND03335

text: son

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: ND03336 male 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

characteristic: collection

text: Clinically affected;onset of symptoms before 2 years of age;diagnosis made by muscle imaging and biopsy;abnormal MRI/CT scan;held up head and sat without assistance at 6 months;no other milestones achieved as yet;donor subject is a compound heterozygote: one allele has a T>C transition at nucleotide 2 in the LAMA2 gene (c.2T>C) and the second allele has a 1 bp deletion at nucleotide 47 (c.47delG)

text: IRISH/POLISH

text: proband

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Laminin, alpha-2

text: Muscular dystrophy, congenital merosin-deficient, 1a

text: GM23327 male affected MDC1A sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 22 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected son of ND03333;brother of ND03336;nephew of ND03334 and ND03335.

characteristic: description

characteristic: family id

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: ND03337 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: DNA id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Dystrophia myotonica 2

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;began using cane at age 65 years;began using walker at age 73;hand stiffness;problems making a fist;difficulty swallowing;problems with ankles;problems rising from a sitting position;cataracts;heart problems

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Dystrophia myotonica 2

text: GM23355 female affected Dystrophia myotonica 2 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Epilepsy

text: 28 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Epilepsy

text: ND03366 female affected Epilepsy sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Dystrophia myotonica 1

text: 33 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected mother of an affected child (GM23375);onset of symptoms at age 30 years;hand stiffness;problems making a fist;difficulty swallowing;cataracts;donor subject has one normal CTG repeat allele and one allele with a CTG repeat size of approximately 800-900 in the DMPK gene

text: IRAQI

characteristic: ethnicity

text: proband

text: DMPK

characteristic: gene

text: (CTG)n EXPANSION

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: Dystrophia myotonica 1

text: GM23358 female affected Dystrophia myotonica 1 sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Epilepsy

text: 1 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy

text: ND03367 male affected Epilepsy sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Dystrophia myotonica 2

text: 67 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;onset of symptoms at age 6 years;hand stiffness;problems making a fist;problems with rising from a sitting position;cataracts;baldness;problems speaking

characteristic: description

text: AUSTRIAN

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Dystrophia myotonica 2

text: GM23372 female affected Dystrophia myotonica 2 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 1 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: twin

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: ND03368 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Dystrophia myotonica 1

text: 41 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;onset of symptoms at age 27 years;began using a walker at age 38;hand stiffness;problems making a fist;problems speaking;difficulty swallowing;facial weakness;problems with ankles;problems rising from a sitting position;difficulty breathing;donor subject has one normal CTG repeat allele and one allele with a CTG repeat size of approximately 130-140 in the DMPK gene

text: IRISH

text: DMPK

text: (CTG)n EXPANSION

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Dystrophia myotonica 1

text: GM23374 female affected Dystrophia myotonica 1 sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 46 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Male

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

characteristic: tag

text: PD

text: Parkinson disease

text: ND03375 male affected Young onset parkinsons panel: affected individuals sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Dystrophia myotonica 1

text: 3 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;affected mother is GM23358;using ankle brace at age 1 year;on ventilator for four weeks after birth;difficulty swallowing;facial weakness;donor subject has one normal CTG repeat allele and one allele with a CTG repeat size of approximately 1700-1800 in the DMPK gene

text: IRAQI

characteristic: ethnicity

characteristic: family id

text: son

text: DMPK

characteristic: gene

text: (CTG)n EXPANSION

text: Homo sapiens

text: Caucasian

text: Male

text: Dystrophia myotonica 1

text: GM23375 male affected Dystrophia myotonica 1 sample

characteristic: title

type: derived from


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 42 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND03375

characteristic: description

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Population/convenience control

text: ND03376 female unaffected Control panel for young onset parkinsons: unaffected individuals sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: Dystrophia myotonica 2

text: 38 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;positive family history;onset of symptoms at age 30 years;hand stiffness;difficulty swallowing;problems rising from a sitting position;heart problems

text: AUSTRIAN/GERMAN

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Dystrophia myotonica 2

text: GM23376 female affected Dystrophia myotonica 2 sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: PD

text: 80 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected spouse is ND03378

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Parkinsons panel: caucasian from north america

characteristic: tag

text: Late onset parkinsons dna panel: affected individuals

text: PD

text: Parkinson disease

text: ND03377 male affected PD sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Dystrophia myotonica 1

text: 65 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;mild phenotype;two affected children;onset of symptoms at age 50 years;donor subject has one normal CTG repeat allele and one allele with a CTG repeat size of approximately 80-90 in the DMPK gene

text: FRENCH/IRISH

characteristic: ethnicity

text: DMPK

characteristic: gene

text: (CTG)n EXPANSION

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Dystrophia myotonica 1

text: GM23378 male affected Dystrophia myotonica 1 sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Epilepsy

text: 16 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother is ND03381

characteristic: description

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Epilepsy generalized: caucasian

text: Epilepsy

text: ND03380 male affected Epilepsy sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: Dystrophia myotonica 2

text: 75 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;daughter;sister and mother are affected;onset of symptoms at age 45 years;began using walker at age 55;uses wheelchair;hand stiffness;problems making a fist;problems with ankles;problems rising from a sitting position;cataracts

text: EUROPEAN/RUSSIAN

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Dystrophia myotonica 2

text: GM23384 female affected Dystrophia myotonica 2 sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 45 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Affected son is ND03380

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

characteristic: tag

text: ND03381 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Corneal dystrophy, fuchs endothelial, 6

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;retinal exam showed glutata;bilateral corneal transplants;diagnosed at age 35 years with a vertebral arch defect with spondylolysthesis with 3rd degree slippage at L5 through S1;positive family history: sister has corneal endothelial dystrophy and another sister has a vertebral arch defect with spondylolysthesis

text: SCOTTISH/GERMAN

characteristic: ethnicity

text: Homo sapiens

text: Caucasian

text: Female

text: Spondylolisthesis

text: Corneal dystrophy, fuchs endothelial, 6

text: GM23386 female affected Corneal dystrophy, fuchs endothelial, 6 sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 50 YR

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND03382 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 57 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Asymptomatic;sensory impairment;mother of an affected child (GM23388);donor subject is heterozygous for a C>T transition at nucleotide 829 in exon 8 of the OTC gene (829C>T) resulting in the substitution of tryptophan for arginine at codon 277 Arg277Trp (R277W)

characteristic: description

characteristic: family id

text: mother

text: OTC

characteristic: gene

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Ornithine transcarbamylase deficiency, hyperammonemia due to

text: OTC

text: Ornithine carbamoyltransferase

text: GM23387 female unaffected OTC sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: Epilepsy

text: 10 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother is ND03384;unaffected father is ND03385

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Epilepsy generalized: caucasian

text: Epilepsy

text: ND03383 male affected Epilepsy sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: OTC

text: 23 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;onset of symptoms at age 15 years;past hyperammonemic events;psychiatric disorder;testing at age 6 showed IQ = 115;on citrulline arginine supplement and sodium phenylbutyrate;protein restriction;donor subject is hemizygous for a C>T transition at nucleotide 829 in exon 8 of the OTC gene (829C>T) resulting in the substitution of tryptophan for arginine at codon 277 Arg277Trp (R277W)

text: proband

text: OTC

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

characteristic: tag

text: OTC

text: Ornithine carbamoyltransferase

text: GM23388 male affected OTC sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 43 YR

text: B-Lymphocyte

text: NINDS Repository

text: Affected son is ND03383;unaffected spouse is ND03385

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND03384 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 29 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Asymptomatic;sensory impairment;affected brother is GM23388;donor subject is heterozygous for a C>T transition at nucleotide 829 in exon 8 of the OTC gene (829C>T) resulting in the substitution of tryptophan for arginine at codon 277 Arg277Trp (R277W)

characteristic: description

characteristic: family id

text: sister

text: OTC

characteristic: gene

text: Homo sapiens

text: Caucasian

text: Female

text: OTC

text: Ornithine carbamoyltransferase

text: GM23389 female unaffected OTC sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 41 YR

text: B-Lymphocyte

text: NINDS Repository

text: Affected son is ND03383;unaffected spouse is ND03384

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: ND03385 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 31 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Asymptomatic;learning disabilities;affected brother is GM23388;donor subject is heterozygous for a C>T transition at nucleotide 829 in exon 8 of the OTC gene (829C>T) resulting in the substitution of tryptophan for arginine at codon 277 Arg277Trp (R277W)

text: sister

text: OTC

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: OTC

text: Ornithine carbamoyltransferase

text: GM23390 female unaffected OTC sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Parkinson disease

text: 47 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: WELSH

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: PD

text: Parkinson disease

text: ND03393 female affected Parkinson disease sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Dystrophia myotonica 1

text: 64 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;onset of symptoms at age 42;hand stiffness;problems making a fist;problems speaking;difficulty swallowing;problems with ankles;problems breathing;cataracts;donor subject has one normal CTG repeat allele and one allele with a CTG repeat size of approximately 170-180 in the DMPK gene

text: ENGLISH/GERMAN

text: DMPK

text: (CTG)n EXPANSION

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: Dystrophia myotonica 1

text: GM23391 female affected Dystrophia myotonica 1 sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: Subarachnoid hemorrhage

text: 78 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Subarachnoid hemorrhage

text: ND03412 female affected Subarachnoid hemorrhage sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Arginase liver

text: 3 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;onset of symptoms at age 26 years;neurological evaluation at age one showed no ambulation;five fold elevated above mean arginine level in blood;decreased arginase enzyme level in red blood cells;autism spectrum disorder;communication disorder (speech delay);learning disabilities;mental retardation with developmental delay (gross motor delay and bilateral lower extremity spasticity;on sodium phenylbutyrate;protein restriction;donor subject has a G>A transition at nucleotide 425 in exon 4 of the ARG1 gene resulting in the substitution of glutamic acid for glycine at codon 142 Gly142Glu (G142E)

characteristic: description

characteristic: gene

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Argininemia

text: Arginase liver

text: GM23407 female affected Arginase liver sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 86 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Subarachnoid hemorrhage

text: ND03413 female affected Subarachnoid hemorrhage sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Arginase liver

text: 48 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;onset of symptoms at age 6 years;five fold elevated above mean arginine level in blood;decreased arginase enzyme level in red blood cells;communication disorder;learning disabilities;mental retardation with developmental delay;past hyperammonemic events;neurological evaluation was normal at age 7;protein restriction;donor subject has a nonsense mutation in exon 4 of the ARG1 gene resulting in a stop at Ala122 Ala122Ter (A122X)

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Argininemia

text: Arginase liver

text: GM23409 female affected Arginase liver sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Subarachnoid hemorrhage

text: 70 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Subarachnoid hemorrhage

characteristic: tag

text: Subarachnoid hemorrhage, caucasian from north america

text: ND03417 female affected Subarachnoid hemorrhage sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: OTC

text: 2 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;elevated orotate after allopurinol challenge with absence of argininosuccinic acid (elevated orotic acid = 759);past hyperammonemic events;on citrulline arginine supplement;sodium benzoate and sodium phenylbutyrate;protein restriction;neurologic evaluation was normal at age 1 year;donor subject is heterozygous for a C>T transition at nucleotide 67 in exon 1 of the OTC gene (67C>T) resulting in a stop at codon 23 Arg23Ter (R23X)

text: OTC

text: Homo sapiens

text: Hispanic/Latino

text: Female

text: Ornithine transcarbamylase deficiency, hyperammonemia due to

text: OTC

text: Ornithine carbamoyltransferase

text: GM23410 female affected OTC sample


text: Coriell

text: live

text: Generic

text: PD

text: 72 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected sister is ND03439

characteristic: description

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinsons panel: caucasian from the united states

text: PD

text: Parkinson disease

text: ND03438 male affected PD sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 14 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Asymptomatic;ADHD;learning disabilities;protein restriction;positive family history;neurological evaluation was normal at age 4 years;IQ = 102;donor subject is heterozygous for an A>T transversion at nucleotide 587 in exon 6 of the OTC gene (587A>T) resulting in the substitution of valine for aspartic acid at codon 196 Asp196Val (D196V)

text: OTC

characteristic: gene

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: OTC

text: Ornithine carbamoyltransferase

text: GM23416 female unaffected OTC sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Epilepsy

text: 14 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected mother is ND03442;unaffected father is ND03443

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Epilepsy generalized: caucasian

text: Epilepsy

text: ND03441 male affected Epilepsy sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: OTC

text: 25 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;onset of symptoms at age 6 years;elevated orotate after allopurinol challenge with absence of argininosuccinic acid (orotate/creatinine = 33.2mmol/mol);on citrulline arginine supplement;sodium benzoate and sodium phenylbutyrate;protein restriction;past hyperammonemic events;normal neurological evaluation at age 5;donor subject is heterozygous for a C>T transition at nucleotide 533 in exon 5 of the OTC gene (533C>T) resulting in the substitution of methionine for threonine at codon 178 Thr178Met (T178M)

text: OTC

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: OTC

text: Ornithine carbamoyltransferase

text: GM23419 female affected OTC sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: 35 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND03442 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: 4 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;onset of symptoms at age 1 year;five fold elevation above mean of plasma ornithine and of homocitrulline in urine;past hyperammonemic events;on citrulline arginine supplement;protein restriction

characteristic: description

text: Homo sapiens

text: Caucasian

text: Female

text: GM23420 female affected Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Epilepsy

text: 52 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother is ND03488

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

text: Epilepsy, focal: caucasian

text: ND03460 female affected Epilepsy sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: LMNA

text: 34 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;no family history;lower extremity weakness;walks with no assistance;falls when tired;paroxysmal atrial fibrillation;nonsustained ventricular tachycardia;first degree AV block;Bell's palsy;moderate lumbar lordosis;some difficulty with tandem gait;donor subject has a G>A transition at nucleotide 746 in exon 4 of the LMNA gene (746G>A) resulting in the substitution of glutamine for arginine at codon 249 Arg249Gln (R249Q)

text: LMNA

characteristic: gene

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Emery-dreifuss muscular dystrophy autosomal dominant

text: LMNA

text: Lamin a/c

text: GM23421 female affected LMNA sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Subarachnoid hemorrhage

text: 47 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: sister

text: Homo sapiens

text: More than one race

characteristic: race

text: Female

text: Subarachnoid hemorrhage

text: ND03461 female affected Subarachnoid hemorrhage sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: 29 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;onset of symptoms at age 20 years;donor subject is a compound heterozygote: one allele has a 15 bp deletion beginning at nucleotide 598 of the CAPN3 gene(598_612del) and the second allele has a T>C transition at nucleotide 338 (338T>C) resulting in the substitution of threonine for isoleucine at codon 113 Ile113Thr (I113T)

text: IRISH/POLISH/AMISH

characteristic: ethnicity

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Calpain 3

text: Muscular dystrophy: limb-girdle type 2a

text: GM23426 male affected LGMD2A sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Neurodegenerative overlap syndrome

text: 73 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND03463

characteristic: description

text: SCOTTISH/IRISH

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Neurodegenerative overlap syndrome

characteristic: tag

text: Parkinsonism, other

text: ND03462 female affected Neurodegenerative overlap syndrome sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 14 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Asympotomatic;positive family history;neurological evaluation was normal at age 10 years;donor subject is heterozygous for a C>T transition at nucleotide 958 in exon 9 of the OTC gene resulting in a stop at codon 320 Arg320Ter (R320X)

text: OTC

text: Homo sapiens

text: Caucasian

text: Female

text: OTC

text: Ornithine carbamoyltransferase

text: GM23429 female unaffected OTC sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 76 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND03462

text: SCOTTISH/IRISH

characteristic: family id

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Population/convenience control

text: ND03463 male unaffected Neurologically normal caucasian control panel sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: OTC

text: 21 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;onset of symptoms at age 18 years;elevated ammonia and orotic acid in blood;communication disorder;learning disabilities;mental retardation with developmental delay;mood disorder;past hyperammonemic events;neurological evaluation at age 4 showed dystonia and tone changes;on citrulline arginine supplement;benzoate and sodium phenylbutyrate;protein restriction;donor subject is heterozygous for a 1 bp deletion in intron 6 of the OTC gene (IVS6+1delG)

text: CAUCASIAN/ASIAN

text: OTC

characteristic: gene

text: Homo sapiens

text: More than one race

characteristic: race

text: Female

text: OTC

text: Ornithine carbamoyltransferase

text: GM23431 female affected OTC sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Epilepsy

text: 9 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Epilepsy generalized: caucasian

text: Epilepsy

text: ND03480 female affected Epilepsy sample


text: Coriell

text: live

text: Generic

text: Argininosuccinate lyase

text: 13 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;onset of symptoms at age 4 years;decreased argininosuccinate lyase activity in skin fibroblasts;learning disabilities;mental retardation with developmental delay;neurological evaluation was normal at age 4 years;on citrulline arginine supplement;protein restriction;donor subject is a compound heterozygote: one allele has a 1 bp deletion at nucleotide 839 in the ASL gene (839delG);the second allele has a G>A transition at nucleotide 35 in exon 2 of the ASL gene (35G>A) resulting in the substitution of glutamine for arginine at codon 12 Arg12Gln (R12Q)

characteristic: description

text: ASL

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Argininosuccinate lyase

characteristic: tag

text: Argininosuccinic aciduria

text: ASL

text: GM23436 female affected Argininosuccinate lyase sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Epilepsy

text: 14 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

text: ND03481 female affected Epilepsy sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Argininosuccinate lyase

text: 15 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;onset of symptoms at age 12 years;elevated argininosuccinic acid in blood and urine;learning disabilities;mental retardation with developmental delay;on citrulline arginine supplement;protein restriction;donor subject is a compound heterozygote: one allele has a 1 bp deletion at nucleotide 839 in the ASL gene (839delG);the second allele has a G>A transition at nucleotide 35 in exon 2 of the ASL gene (35G>A) resulting in the substitution of glutamine for arginine at codon 12 Arg12Gln (R12Q)

text: ASL

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Argininosuccinate lyase

text: Argininosuccinic aciduria

text: ASL

text: GM23437 female affected Argininosuccinate lyase sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: 33 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND03482 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 8 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Asymptomatic;positive family history;on citrulline arginine supplement and sodium phenylbutyrate;protein restriction;neurological evaluation was normal at age 1 year;donor subject has a C>T transition at nucleotide 835 in exon 8 of the OTC gene (835C>T) resulting in a stop at codon 279 Gln279Ter (Q279X)

text: OTC

characteristic: gene

text: Homo sapiens

text: Hispanic/Latino

characteristic: race

text: Female

text: Ornithine transcarbamylase deficiency, hyperammonemia due to

text: OTC

text: Ornithine carbamoyltransferase

text: GM23439 female unaffected OTC sample


text: Coriell

text: live

text: Generic

text: 42 YR

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

characteristic: tag

text: ND03483 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: OTC

text: 7 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;onset of symptoms at age 4 years;clumsy;abnormal tandem gait test;difficulty controlling posture;past hyperammonemic events;biochemical test results: initial NH3 = 450;glutamine >1000 and orotic acid = 1330;on citrulline arginine supplement and sodium phenylbutyrate;protein restriction;donor subject is heterozygous for a T>C transition in exon 6 of the OTC gene resulting in the substitution of threonine for methionine at codon 213 Met213Thr ( M213T)

characteristic: description

text: OTC

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: OTC

text: Ornithine carbamoyltransferase

text: GM23441 female affected OTC sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Epilepsy

text: 33 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected mother is ND03486;unaffected father is ND03487

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy

text: Epilepsy, focal: caucasian

text: ND03485 male affected Epilepsy sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: FRDA

text: 42 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;onset of symptoms at age 28 years;father was affected;uses no assistive devices;angina pectoris;diabetes mellitus;esophageal reflux;hypertension;sleep apnea;essential hypercholesterolemia;hydrocele in right testicle;progressive ataxia;trouble with balance and walking;on disability;homozygous for the GAA expansion in the frataxin gene with alleles of approximately 160 and 947 repeats

text: FXN

text: (GAA)n EXPANSION

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Frataxin

text: FRDA

text: FXN

text: Friedreich ataxia 1

text: GM23443 male affected FRDA sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 61 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Affected son is ND03485;unaffected spouse is ND03487

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND03486 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: OTC

text: 3 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;positive family history;asymptomatic mother is GM23457;fraternal twin brother is also affected;past hyperammonemic events;liver transplant;neurological evaluation was normal at age 3 years;on citrulline arginine supplement and sodium phenylbutyrate;protein restriction;donor subject is hemizygous for a C>T transition in exon 10 of the OTC gene resulting in the substitution of serine for proline at codon 347 Pro347Ser (P347S)

text: proband

text: OTC

characteristic: gene

text: Homo sapiens

text: Hispanic/Latino

characteristic: race

text: Male

characteristic: sex

characteristic: tag

text: OTC

text: Ornithine carbamoyltransferase

text: GM23455 male affected OTC sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 62 YR

text: B-Lymphocyte

text: NINDS Repository

text: Affected son is ND03485;unaffected spouse is ND03486

characteristic: description

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND03487 male 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

text: 33 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Asymptomatic;positive family history;affected twin son is GM23455;donor subject is heterozygous for a C>T transition in exon 10 of the OTC gene resulting in the substitution of serine for proline at codon 347 Pro347Ser (P347S)

text: mother

text: OTC

characteristic: mutation

text: Homo sapiens

text: Hispanic/Latino

text: Female

text: OTC

text: Ornithine carbamoyltransferase

text: GM23457 female unaffected OTC sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 78 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected mother of ND03460

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND03488 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: RTT

text: 7 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;donor subject carries a missense mutation in exon 3 of the gene encoding methyl-CpG binding protein 2 (MECP2) resulting in the substitution of arginine for proline at codon 225 Pro225Arg (P225R)

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: RTT

text: Methyl-cpg-binding protein 2

text: Rett syndrome

text: GM23458 female affected RTT sample


text: Coriell

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 51 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: daughter

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Intracranial aneurysm unruptured: caucasian

text: Intracranial aneurysm - unruptured

text: ND03499 female affected Intracranial aneurysm - unruptured sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: RTT

text: 9 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;donor subject carries a mutation in the gene encoding methyl-CpG binding protein 2 (MECP2) resulting in the deletion of exons 3 and 4

characteristic: description

characteristic: gene

text: DEL EX3-4

text: Homo sapiens

text: Black

text: Female

characteristic: tag

text: RTT

text: Methyl-cpg-binding protein 2

text: Rett syndrome

text: GM23459 female affected RTT sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 61 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: More than one race

text: Female

text: Subarachnoid hemorrhage

text: ND03514 female affected Subarachnoid hemorrhage sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: RTT

text: 5 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;donor subject carries a C>T transition at nucleotide 397 in exon 3 of the gene encoding methyl-CpG binding protein 2 (MECP2) resulting in the substitution of cysteine for arginine at codon 133 Arg133Cys (R133C)

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: RTT

text: Methyl-cpg-binding protein 2

text: Rett syndrome

text: GM23460 female affected RTT sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Intracranial aneurysm - unruptured

text: 55 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND03515 female affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

text: Generic

text: RTT

text: 6 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;donor subject carries a missense mutation in the gene encoding methyl-CpG binding protein 2 (MECP2) resulting in the substitution of arginine for proline at codon 152 Pro152Arg (P152R)

text: Homo sapiens

characteristic: organism

text: Hispanic/Latino

characteristic: race

text: Female

characteristic: sex

text: RTT

text: Methyl-cpg-binding protein 2

text: Rett syndrome

text: GM23461 female affected RTT sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 43 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND03516 female affected Intracranial aneurysm - unruptured sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: RTT

text: 7 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;donor subject carries a C>T transition at nucleotide 808 in exon 3 of the gene encoding methyl-CpG binding protein 2 (MECP2) resulting in a premature stop at codon 270 Arg270Ter (R270X)

characteristic: description

characteristic: gene

text: Homo sapiens

text: Asian

text: Female

characteristic: tag

text: RTT

text: Methyl-cpg-binding protein 2

text: Rett syndrome

text: GM23462 female affected RTT sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: Epilepsy

text: 47 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother is ND03529;unaffected sister is ND03588

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy

text: Epilepsy, focal: caucasian

text: ND03528 male affected Epilepsy sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: RTT

text: 9 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;donor subject carries a 35 bp deletion at nucleotide 1173 (1173_1207del35)of the gene encoding methyl-CpG binding protein 2 (MECP2)

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: RTT

text: Methyl-cpg-binding protein 2

text: Rett syndrome

text: GM23463 female affected RTT sample


text: Coriell

text: live

text: Generic

text: 75 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Affected son is ND03528;unaffected daughter is ND03588

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND03529 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 32 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Asymptomatic;positive family history;asymptomatic mother is GM23501;donor subject is heterozygous for an A>T transversion at nucleotide 903 in exon 9 of the OTC gene (903A>T) resulting in the substitution of phenylalanine for leucine at codon 301 Leu301Phe (L301F)

characteristic: family id

text: proband

text: OTC

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Ornithine transcarbamylase deficiency, hyperammonemia due to

text: OTC

text: Ornithine carbamoyltransferase

text: GM23464 female unaffected OTC sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Epilepsy

text: 13 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother is ND03531

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy generalized: caucasian

characteristic: tag

text: Epilepsy

text: ND03530 female affected Epilepsy sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: OTC

text: 15 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;onset of symptoms at age 7 years;positive family history;affected mother is GM23486;on citrulline arginine supplement;protein restriction;premenstrual mood changes;neurological evaluation was normal at age 2;donor subject is heterozygous for a T>C transition at nucleotide 284 in exon 3 of the OTC gene (284T>C) resulting in the substitution of serine for leucine at codon 95 Leu95Ser (L95S)

text: proband

text: OTC

characteristic: gene

text: Homo sapiens

text: Caucasian

text: Female

text: OTC

text: Ornithine carbamoyltransferase

text: GM23487 female affected OTC sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 46 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother of ND03530

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND03531 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 8 MO

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;hypoketotic hypoglycemia;diagnosed at age 5 days;onset of symptoms at age 5 months;on levocarnitine;has g-tube;see GM23496 Fibroblast;donor subject is homozygous for an A>G transition at nucleotide 985 in exon 11 of the ACADM gene (985A>G) resulting in the substitution of glutamic acid for lysine at codon 304 Lys304Glu (K304E)

text: WELSH/ITALIAN

characteristic: ethnicity

text: proband

text: ACADM

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: ACADM

text: Acyl-coa dehydrogenase, medium-chain

text: GM23495 female affected ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 60 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: sister

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Subarachnoid hemorrhage

text: Subarachnoid hemorrhage, caucasian from north america

text: ND03538 female affected Subarachnoid hemorrhage sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 8 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;hypoketotic hypoglycemia;diagnosed at age 5 days;onset of symptoms at age 5 months;on levocarnitine;has g-tube;see GM23495 Lymphoid;donor subject is homozygous for an A>G transition at nucleotide 985 in exon 11 of the ACADM gene (985A>G) resulting in the substitution of glutamic acid for lysine at codon 304 Lys304Glu (K304E)

characteristic: description

text: WELSH/ITALIAN

text: proband

text: ACADM

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ACADM

text: Acyl-coa dehydrogenase, medium-chain

text: GM23496 female affected ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Intracranial aneurysm - unruptured

text: 49 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm unruptured: caucasian

text: Intracranial aneurysm - unruptured

text: ND03545 female affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

text: Generic

text: RTT

text: 8 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;donor subject carries a 44 bp deletion at nucleotide 1157 (1157_1200del44)of the gene encoding methyl-CpG binding protein 2 (MECP2)

characteristic: gene

text: Homo sapiens

text: Caucasian

text: Female

text: RTT

text: Methyl-cpg-binding protein 2

text: Rett syndrome

text: GM23497 female affected RTT sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Epilepsy

text: 15 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother is ND03553;unaffected father is ND03554

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Epilepsy generalized: caucasian

text: Epilepsy

text: ND03552 male affected Epilepsy sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 65 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Asymptomatic;five fold elevation above mean of plasma ornithine and of homocitrulline in urine;skin biopsy results are consistent with the diagnosis;positive allopurinol challenge;increased glutamine;mental retardation with developmental delay;neurological evaluation was normal at age 23;psychiatric disorder;positive family history;on citrulline arginine supplement and sodium phenylbutyrate;protein restriction

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: GM23499 female unaffected Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 50 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother of ND03552;unaffected spouse is ND03554

characteristic: description

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND03553 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: RTT

text: 4 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;donor subject has a 1 bp deletion at nucleotide 806 in exon 3 of the MECP2 gene (806delG) resulting in a premature stop codon at 288 Val288Ter (V288X)

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: RTT

text: Methyl-cpg-binding protein 2

text: Rett syndrome

text: GM23503 female affected RTT sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 52 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected father of ND03552;unaffected spouse of ND03553

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND03554 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Glycogen phosphorylase, muscle

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;no family history;onset of symptoms at age 4 years;exercise intolerance;rhabdomyolysis;no myophosphorylase;excess glygogen;donor subject is homozygous for a C>T mutation at codon 49 in exon 1 of the PYGM gene resulting in an encoded arginine (CGA) to a stop codon (TGA)

text: BRITISH

characteristic: ethnicity

text: PYGM

characteristic: gene

text: Homo sapiens

text: Caucasian

text: Male

text: PYGM

text: Glycogen storage disease v

text: Glycogen phosphorylase, muscle

text: GM23505 male affected Glycogen phosphorylase, muscle sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Epilepsy

text: 3 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother is ND03579;unaffected father is ND03580

text: ASIAN/AMERICAN

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: More than one race

characteristic: race

text: Male

characteristic: sex

text: Epilepsy

text: ND03578 male affected Epilepsy sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: RTT

text: 3 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;donor subject carries a C>G transversion at nucleotide 421 of the gene encoding methyl-CpG binding protein 2 (MECP2)resulting in a premature stop at codon 141 Tyr141Ter (Y141X)

characteristic: description

text: Homo sapiens

text: Caucasian

text: Female

text: RTT

text: Methyl-cpg-binding protein 2

text: Rett syndrome

text: GM23605 female affected RTT sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 34 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother of ND03578;unaffected spouse is ND03580

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND03579 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: RTT

text: 3 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;donor subject carries a C>G transversion in intron 2 (IVS2-8C>G) of the gene encoding methyl-CpG binding protein 2 (MECP2) causing a splice site variant

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: RTT

text: Methyl-cpg-binding protein 2

text: Rett syndrome

text: GM23606 female affected RTT sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 36 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected father of ND03578;unaffected spouse of ND03579

text: ASIAN/AMERICAN

characteristic: ethnicity

characteristic: family id

text: father

text: Homo sapiens

text: More than one race

text: Male

text: ND03580 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: RTT

text: 11 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;donor subject carries a 41 bp deletion at nucleotide 1324 (1324_1364del41) of the gene encoding methyl-CpG binding protein 2 (MECP2)

characteristic: gene

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: RTT

text: Methyl-cpg-binding protein 2

text: Rett syndrome

text: GM23607 female affected RTT sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Subarachnoid hemorrhage

text: 57 YR

text: B-Lymphocyte

text: NINDS Repository

text: niece

text: Homo sapiens

text: Caucasian

text: Female

text: Subarachnoid hemorrhage

text: Subarachnoid hemorrhage, caucasian from north america

text: ND03584 female affected Subarachnoid hemorrhage sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Dystrophia myotonica 1

text: 14 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;diagnosed at 18 months of age;developmental delay;uses BiPAP;IQ = 81;ADHD;donor subject has one normal CTG repeat allele (5) and one allele with a CTG repeat size of approximately 750 in the DMPK gene;affected sister died at 6 days of age with CTG repeats of 8/1;235

characteristic: description

text: DMPK

text: (CTG)n EXPANSION

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: Dystrophia myotonica 1

text: GM23617 female affected Dystrophia myotonica 1 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Corticobasal degeneration

text: 73 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected spouse is ND03587

text: ITALIAN

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Corticobasal degeneration

text: ND03586 male affected Corticobasal degeneration sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 4 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Mild developmental delay;mild neonatal hyperbilirubinemia;high-pitched cry at birth;left esotropia partially corrected by surgery;normal growth and head size;long philtrum;thin upper lip;tone and tendon reflexes are normal

text: ITALIAN/GERMAN/IRISH

text: 46;XX;der(5)(:?p15.3->p15.1::?p15.3->qter).ish der(5)(C84C11/T3-;D5S23/D5S721++;EGR1+;D5S2907+).arr 5p15.33p15.31(68520-6190451)x1;5p15.31p14.3(6191166-21481804)x3

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Cri-du-chat syndrome

text: Derivative chromosome

text: GM50205 female affected Copy number variation (cnv) refernece panel 02 sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 70 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND03586

text: ITALIAN

characteristic: family id

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Population/convenience control

text: ND03587 female unaffected Neurologically normal caucasian control panel sample