text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 50 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: ND09187 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


status: PUBLIC

characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: 49 YR

tag: attribute

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Wife has had three first trimester spontaneous abortions;see GM05183A Fibroblast

characteristic: description

text: ITALIAN

characteristic: ethnicity

characteristic: family id

text: proband

text: 46;XY;t(6;7)(6pter>6q21::7q21.2>7qter;7pter>7q21.2::6q21>6qter)

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Translocated chromosome

characteristic: tag

text: GM05184 male unaffected Translocated chromosome sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 54 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Control

text: Population/convenience control

text: ND09194 female unaffected Control sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Fmr1 gene

text: 26 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: 46;fra(X);Y present in 30-50% of PBL;affected male by Southern analysis

text: maternal uncle

characteristic: gene

text: (CGG)n EXPANSION

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Fmr1 gene

text: Fragile x mental retardation syndrome

text: GM05185 male affected Fmr1 gene sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Als panel caucasian from the us

text: 61 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Als panel caucasian from the us

text: Amyotrophic lateral sclerosis 1

text: ND09195 male affected Als panel caucasian from the us sample


text: Coriell

text: live

text: Generic

text: Dystrophia myotonica 1

text: 41 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;distal muscle weakness;atrophy;mental retardation;diabetes;prominent myotonia;cataracts;positive EMG;reduced insulin binding by monocytes;affected brother is GM05209

characteristic: description

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Dystrophia myotonica 1

text: GM05208 male affected Dystrophia myotonica 1 sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Intracranial aneurysm - unruptured

text: 52 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Intracranial aneurysm - unruptured

characteristic: tag

text: ND09207 female affected Intracranial aneurysm - unruptured sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Dystrophia myotonica 1

text: 34 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;muscle weakness;atrophy;myotonia;facial weakness;diabetes;positive EMG;reduced insulin binding to monocytes;affected brother is GM05208

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Dystrophia myotonica 1

text: GM05209 male affected Dystrophia myotonica 1 sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 37 YR

text: B-Lymphocyte

text: NINDS Repository

text: IRISH;ITALIAN

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Als panel caucasian from the united states

text: Als panel caucasian from the us

text: Amyotrophic lateral sclerosis 1

text: ND09210 male affected ALS1 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Dystrophia myotonica 1

text: 21 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;diagnosed at age 18;nasal voice;long face;very little facial expression;myotonia elicited in the thenar eminences in both hands;from the tongue and from both gastrocnemii;chronic fatigue and cramping;distal weakness;nominal neck flexion weakness;subdued deep tendon refelxes;facial weakness;lingual myotonia;temporal wasting;affected mother is GM05213

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Dystrophia myotonica 1

text: GM05211 female affected Dystrophia myotonica 1 sample


text: Coriell

text: live

text: Generic

text: 38 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: GERMAN;ENGLISH

characteristic: family id

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND09211 female unaffected Control panel for young onset parkinsons: unaffected individuals sample


text: Coriell

text: live

text: Generic

text: Dystrophia myotonica 1

text: 48 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;marked weakness of distal and proximal muscles;need for wheelchair ambulation;bilateral cataracts;frontal balding;minimal facial expression with open-mouth;hypoactive deep tendon reflexes;weakness of flexion-extension of the head and neck;myotonic response noted at the thenar eminence and at the tongue;myopathic facies;weakness of facial musculature and lingual movements;myotonia of grip;temporal wasting;distal wasting;donor subject has one normal CTG repeat allele and one allele with two strong bands of approximately 900 and 1000 CTG repeats in the DMPK gene;affected daughter is GM05211;see GM05213 fibroblast

characteristic: description

text: mother

text: DMPK

characteristic: gene

text: (CTG)n EXPANSION

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Dystrophia myotonica 1

text: GM05212 female affected Dystrophia myotonica 1 sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 77 YR

text: B-Lymphocyte

text: NINDS Repository

text: ND09329 is proband

text: SWEDEN;NORWAY

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

characteristic: tag

text: ND09213 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Dystrophia myotonica 1

text: 48 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;marked weakness of distal and proximal muscles;need for wheelchair ambulation;bilateral cataracts;frontal balding;minimal facial expression with open-mouth;hypoactive deep tendon reflexes;weakness of flexion-extension of the head and neck;myotonic response noted at the thenar eminence and at the tongue;myopathic facies;weakness of facial musculature and lingual movements;myotonia of grip;temporal wasting;distal wasting;donor subject has one normal CTG repeat allele and one allele with two strong bands of approximately 900 and 1000 CTG repeats in the DMPK gene;affected daughter is GM05211;see GM05212 lymphocyte

text: mother

text: DMPK

text: (CTG)n EXPANSION

text: Homo sapiens

text: Caucasian

text: Female

text: Dystrophia myotonica 1

text: GM05213 female affected Dystrophia myotonica 1 sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 73 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected mother of ND09329;spouse of ND09213

text: BELGIUM

characteristic: ethnicity

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND09214 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 23 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Type I bipolar illness;cyclothymic personality;onset at age 18;alcoholic;drug abuse;8 episodes of major depression;6 episodes of mania;on Lithium;skin biopsy (posterior iliac crest);affected mother is GM06139 Lymphoid

characteristic: description

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: GM05215 female affected Major affective disorder - 125480 or 309200 sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Epilepsy

text: 36 YR

text: B-Lymphocyte

text: NINDS Repository

text: MATERNAL AUNT- CA;DIABETES.

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Epilepsy generalized: caucasian

text: Epilepsy

text: ND09217 female affected Epilepsy sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 60 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Type II bipolar illness with major depression;pos fam hx;2 episodes of dysphoria;poor appetite;loss of energy & interest;& slowed movements;onset at age 49;on Elavil;skin biopsy (posterior iliac crest);see GM04972A Lymphoid

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

characteristic: tag

text: GM05216 female affected Major affective disorder - 125480 or 309200 sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Epilepsy

text: 35 YR

text: B-Lymphocyte

text: NINDS Repository

text: MATERNAL AUNT- CA;DIABETES.

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy generalized: caucasian

text: Epilepsy

text: ND09218 male affected Epilepsy sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 29 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Type I bipolar illness;positive family history;onset at age 20;1 manic episode & 1 major depressive episode;on Lithium & Dalmane;skin biopsy (posterior iliac crest)

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: GM05217 female affected Major affective disorder - 125480 or 309200 sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 36 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: sister-in-law

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND09219 female unaffected Control panel for young onset parkinsons: unaffected individuals sample


text: Coriell

text: live

text: Generic

text: 55 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Schizo-affective manic & schizo-affective depressed;anti-social personality;onset at age 19;4 episodes of major depression;1 episode of mania;& 4 episodes of hypomania;on Lithium;skin bx (post iliac crest);see GM04946A Lymph

characteristic: description

characteristic: family id

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: GM05218 male affected Major affective disorder - 125480 or 309200 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 72 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND09236

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: ND09222 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 30 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Depressive personality;type II bipolar illness with major depression & generalized anxiety disorder;onset at age 11;3 episodes of major depression & 1 episode of hypomania;positive family history;skin biopsy (post iliac crest)

text: sister

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: GM05219 female affected Major affective disorder - 125480 or 309200 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: PD

text: 71 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Parkinsons panel: caucasian from north america

text: Late onset parkinsons dna panel: affected individuals

text: PD

text: Parkinson disease

text: ND09223 female affected PD sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 55 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Type I bipolar illness;positive family history;onset at age 38;3 episodes of major depression;5 episodes of mania;on Lithium;skin biopsy (posterior iliac crest);see GM04949B Lymphoid

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: GM05220 male affected Major affective disorder - 125480 or 309200 sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: PD

text: 77 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected father is ND09225

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: PD

text: Parkinson disease

text: ND09224 female affected PD sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 65 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Type II bipolar illness;positive family history;onset at age 43;3 episodes of major depression;3 episodes of hypomania;on Lithium;a daughter has acute intermittent porphyria;pt tested neg;see GM04952A Lym;skin bx (post iliac crest)

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: GM05221 male affected Major affective disorder - 125480 or 309200 sample


text: Coriell

text: live

text: Generic

text: 55 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: ND09225 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 38 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Type I bipolar illness;positive family history;onset at age 32;hyperthymic personality;4 episodes of mania;unknown number of minor depressive episodes;on Lithium;skin biopsy (posterior iliac crest);see GM04950A Lymphoid

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: GM05222 male affected Major affective disorder - 125480 or 309200 sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 57 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected aunt is ND09229

characteristic: description

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Young onset parkinsons dna panel: affected individuals

text: PD

text: Parkinson disease

text: ND09228 female affected Parkinson disease sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 20 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Type I bipolar illness;onset at age 17;3 manic episodes;drug abuse;on Lithium;positive family history;skin biopsy (posterior iliac crest);see GM04984B Lymphoid

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: GM05224 male affected Major affective disorder - 125480 or 309200 sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 73 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND09223

text: spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Population/convenience control

text: ND09230 male unaffected Neurologically normal caucasian control panel sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 28 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Type I bipolar illness;onset at age 17;5 major depressive episodes and 2 manic episodes;on Lithium;skin biopsy (posterior iliac crest);see GM04986A Lymph

text: brother

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: GM05225 male affected Major affective disorder - 125480 or 309200 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Parkinson disease

text: 67 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: PD

text: Parkinson disease

text: ND09231 female affected Parkinson disease sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 43 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Type I bipolar illness;positive family history;onset at age 18;3 episodes of major depression;indeterminate number of manic episodes;on Lithium;skin biopsy (post iliac crest);see GM04985 Lymphoid

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: GM05226 female affected Major affective disorder - 125480 or 309200 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 72 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: ND09232 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 27 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Type I bipolar illness;positive family history;onset at age 22;3 episodes of major depression;indeterminate number of episodes of mania;hyperthymic personality;on Lithium;skin biopsy (posterior iliac crest);see GM04996 Lymph

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: GM05227 female affected Major affective disorder - 125480 or 309200 sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 76 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: Neurologically normal caucasian control panel

text: ND09233 male unaffected Dna control panel for late onset parkinsons: unaffected individuals sample


text: Coriell

text: live

text: Generic

text: 17 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Probable anorexia nervosa;alcoholic;onset at age 14;skin biopsy (posterior iliac crest);affected mother is GM06139 Lymphoid

characteristic: description

characteristic: family id

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: GM05228 female affected Major affective disorder - 125480 or 309200 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: PD

text: 71 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Parkinsons panel: caucasian from north america

text: Late onset parkinsons dna panel: affected individuals

text: PD

text: Parkinson disease

text: ND09234 female affected PD sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 32 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically normal mother of a child with 5p- phenotype and normal karyotype

characteristic: karyotype

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Translocated chromosome

text: GM05235 female unaffected Translocated chromosome sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: Parkinson disease

text: 72 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND09222

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: PD

text: Parkinson disease

text: ND09236 female affected Parkinson disease sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 21 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Type II bipolar illness;onset at age 18;2 episodes of minor depression & 1 episode of major depression

text: son

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: GM05236 male affected Major affective disorder - 125480 or 309200 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Subarachnoid hemorrhage

text: 51 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Subarachnoid hemorrhage

text: ND09248 female affected Subarachnoid hemorrhage sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 49 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: One year history of alcoholism at age 45;has never received psychiatric treatment

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: GM05237 male unaffected Major affective disorder - 125480 or 309200 sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 45 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: sister

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND09255 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 15 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Type II bipolar illness;onset at age 15;1 episode of major depression;1 episode of minor depression;& 1 hypomanic episode

characteristic: description

text: daughter

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: GM05239 female affected Major affective disorder - 125480 or 309200 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: Intracranial aneurysm - unruptured

text: 59 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Intracranial aneurysm - unruptured

text: ND09256 female affected Intracranial aneurysm - unruptured sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 46 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Type II bipolar illness with major depression;positive family history;onset at age 20;indeterminate number of major depressive episodes;10 hypomanic episodes

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: GM05240 female affected Major affective disorder - 125480 or 309200 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Subarachnoid hemorrhage

text: 47 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Subarachnoid hemorrhage

text: ND09261 female affected Subarachnoid hemorrhage sample


text: Coriell

text: live

text: Generic

text: Leprechaunism

text: 1 MO

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Low birth weight;hirsutism;insulin resistant;characteristic facies;and no subcutaneous fat;normal number of insulin receptors with reduced affinity in fibroblasts;reduced number of receptors with normal affinity in lymphoblasts

text: Homo sapiens

text: Caucasian

text: Female

text: Leprechaunism

text: GM05241 female affected Leprechaunism sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 40 YR

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Control

text: Population/convenience control

text: ND09264 male unaffected Control sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 59 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;2 affected children;see GM05256 Lymphoid;mother of GM05257 & 05259

characteristic: family id

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Wilson disease

text: GM05255 female unaffected Wilson disease sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 29 YR

text: B-Lymphocyte

text: NINDS Repository

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: ND09269 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 59 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;2 affected children;see GM05255 Fibroblast

characteristic: description

text: mother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Wilson disease

text: GM05256 female unaffected Wilson disease sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: 60 YR

text: B-Lymphocyte

text: NINDS Repository

text: ENGLISH

characteristic: ethnicity

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Population/convenience control

text: ND09270 female unaffected Population/convenience control sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: Wilson disease

text: 34 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Diagnosed at age 24 as asymptomatic with emotional instability;low serum ceruloplasmin & high hepatic copper level;maintained on d-penicillamine;father had Wilson's disease;parents are first cousins;see GM05258A Lymphoid

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Wilson disease

characteristic: tag

text: GM05257 female affected Wilson disease sample


text: Coriell

text: live

text: Generic

text: 59 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: ND09271 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 34 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Diagnosed at age 24 as asymptomatic with emotional instability;low serum ceruloplasmin & high hepatic copper level;maintained on d-penicillamine;father had Wilson's disease;parents are first cousins;see GM05257 Fibroblast;donor subject is a compound heterozygote: one allele has an A>C change at nucleotide 3191 in the ATP7B gene (c.3191A>C) resulting in the substitution of alanine for glutamic acid at codon 1064 Glu1064Ala (E1064A) and the second allele has a C>A change at nucleotide 3207 (c.3207C>A) resulting in the substitution of glutamine for histidine at codon 1069 His1069Gln (H1069Q)

characteristic: family id

text: proband

characteristic: gene

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Wilson disease

text: GM05258 female affected Atpase, cu(2+)-transporting, beta polypeptide sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 26 YR

text: B-Lymphocyte

text: NINDS Repository

text: son

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: ND09272 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Wilson disease

text: 30 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Diagnosed at age 19 with hepatitis;maintained on d-penicillamine with resolution of liver disease & no evidence of CNS dysfunction;see GM05260 Lymphoid

characteristic: description

text: sister

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Wilson disease

text: GM05259 female affected Wilson disease sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 55 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

characteristic: tag

text: ND09273 female unaffected Population/convenience control sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Wilson disease

text: 30 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Diagnosed at age 19 with hepatitis;maintained on d-penicillamine with resolution of liver disease & no evidence of CNS dysfunction;see GM05259 Fibroblast

characteristic: family id

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Wilson disease

text: GM05260 female affected Wilson disease sample


text: Coriell

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 46 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND09274 female affected Intracranial aneurysm - unruptured sample

characteristic: title


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: Muscular dystrophy: duchenne type

text: 12 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected with Duchenne muscular dystrophy;diagnosed at age 3;calf hypertrophy;weakness;wheelchair bound sometime before age 10;waddling gait noted at age 3;by age 5 there was toe walking;positive Gower's maneuver;tight heelcords;lumbar lordosis;contractures of the ankles;weakness of the shoulders;wrists and some weakness in grip;muscle testing of quadriceps;neck flexors and hip flexors graded as good;by age 10 there was scoliosis;ability to raise hands above head without difficulty;marked weakness of legs;son of GM05264;CPK of 17;290 and transaminase of 377 at age 5;electromyogram showed changes consistent with progressive muscular dystrophy;dystrophin gene shows no detectable deletion or duplication by multiplex ligation probe amplification (MLPA) analysis;DNA sequencing showed this donor has a 1 bp deletion at nucleotide 7893 of the DMD gene (7893delC) resulting in a frameshift (Q2632Sfs6)

text: proband

text: DMD

characteristic: gene

text: arr 8p23.1(7202008-7836249)x3

characteristic: karyotype

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Muscular dystrophy: duchenne type

text: DMD

text: GM05263 male affected Muscular dystrophy: duchenne type sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

text: Epilepsy

text: 1 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Epilepsy

text: ND09282 male affected Epilepsy sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 33 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;mother of an affected child (GM05263)

characteristic: description

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Muscular dystrophy: duchenne type

characteristic: tag

text: DMD

text: GM05264 female unaffected Muscular dystrophy: duchenne type sample


text: Coriell

text: live

text: Generic

text: 53 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: ITALIAN;EUROPEAN;AMERICAN INDIAN

characteristic: ethnicity

characteristic: family id

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Population/convenience control

text: Neurologically normal caucasian control panel

text: ND09287 male unaffected Control panel for young onset parkinsons: unaffected individuals sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: Dystrophia myotonica 1

text: 45 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;proximal muscle weakness;weakness of grip;occasional joint stiffness;facial weakness;slurred speech;piebaldness;classical hatchet facies with bitemporal atrophy;sunken eyeballs;bilateral ptosis;facial diparesis;weakness of lid closure;loss of intrinsic musculature of upper extremities;weakness to dorsiflexion of both wrists;myotonia of grip and of both thenar eminences;weakness of dorsiflexion of ankles;proximal weakness of quadriceps group;depressed reflexes;Gower's maneuver;temporal recession;affected brother is GM04573;affected father is GM05142;affected nephew is GM04647

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Dystrophia myotonica 1

text: GM05281 female affected Dystrophia myotonica 1 sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

text: Amyotrophic lateral sclerosis 1

text: 53 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Amyotrophic lateral sclerosis 1

text: ND09288 female affected Amyotrophic lateral sclerosis 1 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Fragile x mental retardation syndrome

text: 21 FW

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Skin fibroblast culture;oldest halfbrother is mentally retarded & expresses fra(X);another half-brother is mentally retarded;mother does not express the fra(X);1.3% to 6% of fibroblasts showed 46;fra(X);Y

text: Homo sapiens

text: Black

text: Male

characteristic: sex

text: Fragile x mental retardation syndrome

text: GM05282 male affected Fragile x mental retardation syndrome sample


text: Coriell

text: live

text: Generic

text: 60 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: CANADIAN

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND09291 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 5 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;B.S. Registry #86;birth weight = 1;920 grams;birth length = 43.5 cm;at age 11 months: weight = 5;290 grams;height = 63.5 cm;small face with hypoplastic malar bone;prominent ears;retruded mandible;high-pitched;squeaky voice;multiple cafe-au-lait spots;depigmented flecks;short stature;facial telangiectasias;photosensitivity;IgA and IgM deficiency;normal serum levels of IgG;increased sister chromatid exchange;chromosome gaps and breaks;donor subject is homozygous for a 1-bp insertion at nucleotide 1544 1544insA of the RECQL3 gene resulting in a frameshift and premature termination fs:514+1-X .

characteristic: description

text: JAPANESE

text: proband

characteristic: gene

text: 46;XX 36% of cells have random chromosome abnormalities;increased frequency of SCEs

characteristic: karyotype

characteristic: mutation

text: Homo sapiens

text: Asian

text: Female

characteristic: tag

text: BLM

text: Bloom syndrome

text: Recq protein-like 3

text: GM05289 female affected RECQL3 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 34 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected mother is ND09293;unaffected father is ND09291

text: CANADIAN;IRISH;ENGLISH

characteristic: ethnicity

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND09292 male affected Amyotrophic lateral sclerosis 1 sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 8 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Japanese;XP3KR;dry;pigmented skin;mental retardation;similarly affected identical twin;less than 5% of normal post UV light induced unscheduled DNA synthesis;donor subject is a compound heterozygote for two mutations in the XPA gene:: one allele carries the G-to-C transversion at the 3-prime splice acceptor site of intron 3 of the XPA gene;abolishing the canonical 3-prime splice site and creating two abnormally spliced mRNA forms;the second allele carries a C-to-T substitution at nucleotide 682 (682C>T) which alters the arg-228 codon (CGA) to a nonsense codon (TGA) in exon 6 of the XPA gene ARG228TER (R228X) .

text: JAPANESE

text: proband

text: XPA

text: 3-PRIME SPLICE SITE

text: INTRON 3

text: Homo sapiens

text: Japanese

characteristic: race

text: Female

text: XPA

text: GM05292 female affected Xeroderma pigmentosum, complementation group a sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 59 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: ND09292 is proband

characteristic: description

text: IRISH;ENGLISH

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: ND09293 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 6 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Japanese;XP2KA;dry;pigmented skin;skin cancer;no mental retardation;25% of normal post UV light induced unscheduled DNA synthesis

text: JAPANESE

text: Homo sapiens

text: Asian

text: Female

characteristic: tag

text: XPC

text: GM05293 female affected Xeroderma pigmentosum, complementation group c sample


text: Coriell

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 63 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: sister

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Subarachnoid hemorrhage

text: ND09303 female affected Subarachnoid hemorrhage sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 22 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Lymphocytes show trisomic codominant expression of HLA A (34;19;23) and B (13;12;35) haplotypes;46;XY in lymphocytes;in fibroblasts;17% of cells have an additional t(3;11)(p21;q23) at passage 6

text: proband

text: 46;XY;t(3;11)(p21;q23) 6 /46;XY 44;46;XY/46;XY;t(3;11)(p21;q23)

characteristic: karyotype

text: Homo sapiens

text: Black

text: Male

text: Apparently healthy non-fetal tissue

text: GM05294 male unaffected Apparently healthy non-fetal tissue sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Epilepsy

text: 14 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy generalized: caucasian

text: Epilepsy

text: ND09306 female affected Epilepsy sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 1 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Multiple congenital malformations;dysmorphic features;intrauterine growth retardation;heart murmur;cleft palate;equinovarus deformity;microcephaly;coloboma of right iris;clinodactyly;reduced RBC catalase activity;1 copy of catalase gene

text: proband

text: 46;XX;der(11)(11pter>11p13::10q21>10q24::11p13>11qter)mat

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Chromosome insertion

text: GM05296 female unaffected Chromosome insertion sample


text: Coriell

text: live

text: Generic

text: 48 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND09307 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 21 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Phenotypically normal;mother and grandfather carry the same inv ins;normal red blood cell catalase activity

characteristic: description

text: mother

text: 46;XX;ins(11;10)(11pter>11p13:: 10q21>10q24::11p13>11qter;10pter>10q21::10q24>10qter)

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Chromosome insertion

text: GM05297 female unaffected Chromosome insertion sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 43 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: tag

text: ND09308 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 10 DA

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Intrauterine growth retardation;microcephaly;dysmorphic features;congenital heart disease (truncus type I)

text: 46;XX;del(10)(10pter->10q26:).ish del(10)(q26)(D10S2488+;D10S2490-);?dup(17)(p13)(D17S2199+).arr 10q26.11q26.3(121220107-135356682)x1;17p13.3(513-1927281)x3;46;XX;del(10)(pter>q26:)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Chromosome deletion

text: GM05299 female unaffected Chromosome deletion sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Intracranial aneurysm - unruptured

text: 52 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND09321 female affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

text: Generic

text: 9 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;parents noticed that child did not appear to see objects at about 3 months of age;at about 5 months of age did not show normal fixing and following characteristics;fixing and following characterisitcs were noted at 9 months of age;inability to see relative small objects at 9 months;fundus exam normal at 9 months of age;kinetic nystagmus;pepper and salt pigmentary changes;hyperopia;8 diopters;ERG extinguished in both eyes under both photopic and scotopic conditions;see GM05301 lymphoid

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: GM05300 male affected Amaurosis congenita of leber type i or ii - 204000 or 204100 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Epilepsy

text: 3 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: African American

text: Female

text: Epilepsy

text: ND09322 female affected Epilepsy sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 9 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;parents noticed that child did not appear to see objects at about 3 months of age;at about 5 months of age did not show normal fixing and following characteristics;fixing and following characterisitcs were noted at 9 months of age;inability to see relative small objects at 9 months;fundus exam normal at 9 months of age;kinetic nystagmus;pepper and salt pigmentary changes;hyperopia;8 diopters;ERG extinguished in both eyes under both photopic and scotopic conditions;see GM05300 fibroblast

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: GM05301 male affected Amaurosis congenita of leber type i or ii - 204000 or 204100 sample


text: Coriell

text: live

text: Generic

text: Epilepsy

text: 7 YR

text: B-Lymphocyte

text: NINDS Repository

text: ND09327 is mother

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Epilepsy generalized: caucasian

characteristic: tag

text: Epilepsy

text: ND09326 female affected Epilepsy sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Prominent occiput;mild hypertelorism;short neck;wrinkled skin;talipes equinovarus of feet;and cleft palate

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Chromosome deletion

text: GM05302 female unaffected Chromosome deletion sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Als panel caucasian from the us

text: 37 YR

text: B-Lymphocyte

text: NINDS Repository

text: SWEDEN;NORWAY

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Als panel caucasian from the us

text: Amyotrophic lateral sclerosis 1

text: ND09329 female affected Als panel caucasian from the us sample

characteristic: title


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 24 FW

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Mother with balanced translocation is GM07456 Lymphoid

text: proband

text: 47;XX;+der(9)(9pter->9q31::13q31->13qter)mat.arr 1q31.3(195010746-195168376)x1;9p24.3q31.1(36586-103756803)x3;13q31.3q34(92627371-114126487)x3;47;XX;+der(9)(9pter>9q31.2::13q32.1>13qter)mat

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Derivative chromosome

text: GM05319 female unaffected Derivative chromosome sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 28 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Spouse of proband ND09332

characteristic: description

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Control

text: Population/convenience control

text: ND09331 female unaffected Control sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Retinitis pigmentosa 1

text: 50 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;difficulty with peripheral vision;decreasing night vision;decreased visual acuity;history of acute glaucoma on two occasions;fundus exam revealed equatorial pigmentary changes in both eyes with only an occasional boney spicule appearance to this pigmentation;constricted visual fields;central visual thresholds good;ERG exam showed flat photopic and scotopic amplitudes in both eyes except for remnant of the scotopic A-wave in the right eye;see GM05321 Fibroblast

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: sex

characteristic: tag

text: Retinitis pigmentosa 1

text: GM05320 female affected Retinitis pigmentosa 1 sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Epilepsy

text: 39 YR

text: B-Lymphocyte

text: NINDS Repository

text: MOTHER-ALZHEIMERS AND CANCER

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy

text: ND09332 male affected Epilepsy sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Retinitis pigmentosa 1

text: 50 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;difficulty with peripheral vision;decreasing night vision;decreased visual acuity;history of acute glaucoma on two occasions;fundus exam revealed equatorial pigmentary changes in both eyes with only an occasional boney spicule appearance to this pigmentation;constricted visual fields;central visual thresholds good;ERG exam showed flat photopic and scotopic amplitudes in both eyes except for remnant of the scotopic A-wave in the right eye;see GM05320 Lymphoid

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Retinitis pigmentosa 1

text: GM05321 female affected Retinitis pigmentosa 1 sample

characteristic: title


text: Coriell

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 30 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND09347

text: INDIAN

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Asian

text: Female

text: Amyotrophic lateral sclerosis 1

text: ND09346 female affected Amyotrophic lateral sclerosis 1 sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Gangliosidosis generalized gm1 type i

text: 2 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Progressive dementia;progressive hypotonia;bony abnormality;retinal pigmentation;1-2% of normal B-galactosidase activity in leukocytes and fibroblasts;normal sialidase activity

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Gangliosidosis generalized gm1 type i

text: GM05335 female affected Gangliosidosis generalized gm1 type i sample


text: Coriell

text: live

text: Generic

text: 30 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected spouse is ND09346

characteristic: description

text: INDIAN

text: spouse

text: Homo sapiens

text: Asian

text: Male

text: Control

text: Population/convenience control

text: ND09347 male unaffected Control sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 14 DA

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Greek helmet face;shallow orbits & protruding eyes;congenital heart disease;hypospadias;undescended testes

text: 46;XY;der(4)(4qter>4p15::3p21.3>3pter)mat

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Translocated chromosome

text: GM05336 male unaffected Translocated chromosome sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Als panel caucasian from the us

text: 37 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

characteristic: tag

text: Als panel caucasian from the us

text: Amyotrophic lateral sclerosis 1

text: ND09348 male affected Als panel caucasian from the us sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Wilson disease

text: 25 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Onset at age 13 with jaundice;evidence of chronic liver disease;presence of Kayser-Fleischer rings;& low ceruloplasmin;controlled with d-penicillamine with no evidence of liver or CNS dysfunction;see GM05340 Lymphoid

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Wilson disease

text: GM05339 female affected Wilson disease sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 36 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND09349 female unaffected Control panel for young onset parkinsons: unaffected individuals sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Wilson disease

text: 25 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Onset at age 13 with jaundice;evidence of chronic liver disease;presence of Kayser-Fleischer rings;& low ceruloplasmin;controlled with d-penicillamine with no evidence of liver or CNS dysfunction;see GM05339 Fibroblast

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Wilson disease

text: GM05340 female affected Wilson disease sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 62 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Als panel lower-limb onset

text: Als panel lower-limb onset probable and possible als

text: Als panel caucasian from the us

text: Amyotrophic lateral sclerosis 1

text: ND09350 male affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Wilson disease

text: 23 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Diagnosed as asymptomatic at age 12 with low serum ceruloplasmin;elevated urinary & hepatic copper levels;maintained on d-penicillamine with no evidence of liver disease or CNS dysfunction;see GM05342 Lymphoid

characteristic: description

text: sister

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Wilson disease

text: GM05341 female affected Wilson disease sample


text: Coriell

text: live

text: Generic

text: 60 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

characteristic: tag

text: Population/convenience control

text: Neurologically normal caucasian control panel

text: ND09351 female unaffected Dna control panel for late onset parkinsons: unaffected individuals sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Wilson disease

text: 23 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Diagnosed as asymptomatic at age 12 with low serum ceruloplasmin;elevated urinary & hepatic copper levels;maintained on d-penicillamine with no evidence of liver disease or CNS dysfunction;see GM05341 Fibroblast

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Wilson disease

text: GM05342 female affected Wilson disease sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 64 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: ND09352 male affected Parkinson disease sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Glycogen storage disease vii

text: 62 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Muscle weakness and myoglobinuria on exertion;produces an unstable;catalytically dysfunctional M subunit;residual RBC PFK activity consists exclusively of the L4 isozyme

text: RUSSIAN

characteristic: ethnicity

text: Homo sapiens

text: Caucasian

text: Male

text: Glycogen storage disease vii

text: GM05344 male affected Glycogen storage disease vii sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 58 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Population/convenience control

text: ND09353 female unaffected Population/convenience control sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Retinitis pigmentosa

text: 21 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;decreased night vision since age 14;intermittent visual defects in peripheral field since age 18-19;siderotic vitreous cavity with a few pigmented cells;fundus exam revealed marked arteriolar attenuation;optic nerve pallor;and generalized pigmentary stippling;some surface wrinkling retinopathy in the posterior pole of both eyes;focal areas of bone corpuscular pigmentation;visual fields showed large mid-peripheral scotoma;sister has problems with night vision;ERG was extinguished for both eyes;EOG was flat bilaterally;see GM05346 Lymphoid

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Retinitis pigmentosa

text: RP

text: GM05345 male affected Retinitis pigmentosa sample


text: Coriell

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 75 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: sex

text: Intracranial aneurysm - unruptured

text: ND09358 female affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Retinitis pigmentosa

text: 21 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;decreased night vision since age 14;intermittent visual defects in peripheral field since age 18-19;siderotic vitreous cavity with a few pigmented cells;fundus exam revealed marked arteriolar attenuation;optic nerve pallor;and generalized pigmentary stippling;some surface wrinkling retinopathy in the posterior pole of both eyes;focal areas of bone corpuscular pigmentation;visual fields showed large mid-peripheral scotoma;sister has problems with night vision;ERG was extinguished for both eyes;EOG was flat bilaterally;see GM05345 fibroblast

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Retinitis pigmentosa

characteristic: tag

text: RP

text: GM05346 male affected Retinitis pigmentosa sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Als panel caucasian from the us

text: 56 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Als panel caucasian from the us

text: Amyotrophic lateral sclerosis 1

text: ND09362 female affected Als panel caucasian from the us sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 2 MO

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Partial trisomy 1q;cup-shaped ear;small flattened nose;deep philtrum;downward slanting eyes;club feet;pyloric stenosis;VSD;and hyperconvex nails;mother is GM05348 Lymphoid

text: proband

text: 46;XY;der(9)(9qter>9p24:: 1q32>1qter)mat;46;XY;der(9)t(1;9)(1qter->1q32::9p24->9qter)mat.arr 1q32.1q44(202492814-247190999)x3;9p24.3(36586-1121501)x1

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Translocated chromosome

text: GM05347 male unaffected Translocated chromosome sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 55 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected spouse of ND09362.

text: spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Control

text: Population/convenience control

text: ND09363 male unaffected Control sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 29 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Son is GM05347 Fibroblast

characteristic: description

text: mother

text: 46;XX;t(1;9)(1pter>1q32::9p24>9pter;9qter>9p24::1q32>1qter)

text: Homo sapiens

text: Caucasian

text: Female

text: Translocated chromosome

text: GM05348 female unaffected Translocated chromosome sample


text: Coriell

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 64 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: sex

text: Amyotrophic lateral sclerosis 1

text: ND09364 female affected Amyotrophic lateral sclerosis 1 sample


characteristic: DNA id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Mucopolysaccharidosis type vi

text: 12 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Congestive heart failure;dysostosis multiplex;corneal clouding;deficient arylsulfatase B in fibroblasts & peripheral blood leukocytes;same patient as GM01022A

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Mucopolysaccharidosis type vi

characteristic: tag

text: GM05358 female affected Mucopolysaccharidosis type vi sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 67 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: ND09365 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual 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: Loss of visual acuity since age 11;consanguineous parents;normal photopic & scotopic ERG;pigmentary retinopathy;also has Kartagener syndrome (bronchiectasis & situs inversus totalis)

text: Homo sapiens

text: Caucasian

text: Male

text: Ciliary dyskinesia, primary, 1

text: Stargardt disease 1

text: GM05365 male affected STGD1 sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Als panel caucasian from the us

text: 47 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Als panel caucasian from the us

text: Amyotrophic lateral sclerosis 1

text: ND09369 male affected Als panel caucasian from the us sample


text: Coriell

text: live

text: Generic

text: Wilson disease

text: 32 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: First diagnosed at age 25;low ceruloplasmin;hypersplenism;post-necrotic cirrhosis with portal hypertension and fluid retention;and elevated urinary copper excretion;on penicillamine;see GM05367 Lymphoid

characteristic: description

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Wilson disease

text: GM05366 female affected Wilson disease sample


text: Coriell

text: live

text: Generic

text: 47 YR

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: sex

text: ND09370 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Wilson disease

text: 32 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: First diagnosed at age 25;low ceruloplasmin;hypersplenism;post-necrotic cirrhosis with portal hypertension & fluid retention;& elevated urinary copper excretion;on penicillamine;see GM05366A Fibroblast

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Wilson disease

text: GM05367 female affected Wilson disease sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 47 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: African American

text: Female

characteristic: tag

text: ND09371 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: 67 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected mother of GM05366A

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Wilson disease

text: GM05368 female unaffected Wilson disease sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 60 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: African American

text: Female

text: ND09372 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 70 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: See GM05371 Lymphoid;clinically unaffected father of GM05366A

text: father

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Wilson disease

text: GM05370 male unaffected Wilson disease sample


text: Coriell

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 57 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

characteristic: gene

text: (GGGGCC)n EXPANSION

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND09373 male affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 70 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: See GM05370 Fibroblast

characteristic: description

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Wilson disease

text: GM05371 male unaffected Wilson disease sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 59 YR

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: Population/convenience control

text: Neurologically normal caucasian control panel

text: ND09374 female unaffected Dna control panel for late onset parkinsons: unaffected individuals sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: Chronic myelogenous leukemia

text: 53 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Line K562;established from a patient with chronic myelogenous leukemia by Lozzio and Lozzio;produces embryonic hemoglobin in response to hemin;modal number of chromosomes = 60;range is 55-62;structural aberrations for chromosomes #1;#3;#9;#13;and #14 were observed

text: proband

text: XX;modal # of 62 chromos;range is 58 to 62;structural and numerical aberrations of all chromos except X;XX;modal # of 60 chromosomes;range is 55 to 62;structural aberrations of chromos #1;#3;#9;#13;& #14 were observed;XX;modal no. of 60 chromosomes;range is 55 to 62;structural aberrations of chromo. #1;#3;#9;#13;& #14 were observed;XX;modal no. of 60 chromosomes;range is 55 to 62;structural aberrations of chromos. #1;#3;#9;#13;#14 were observed;XX;modal no. of 60 chromosomes;range is 55 to 62;structural aberrations of chromos. #1;#3;#9;#13;& #14 were observ;XX;modal no. of 60 chromosomes;range is 55 to 62;structural aberrations of chromos.#1;#3;#9;#13;& #14 were observ.

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Chronic myelogenous leukemia

text: Human erythroleukemic cell lines

text: GM05372 female affected Chronic myelogenous leukemia sample


text: Coriell

text: live

text: Generic

text: 57 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

characteristic: family id

text: proband

text: (GGGGCC)n EXPANSION

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Ndpt116 - als panel: caucasians from north america upper-limb onset

text: Als panel upper-limb onset probable and possible als

text: Als panel caucasian from the us

text: Amyotrophic lateral sclerosis 1

text: ND09375 female affected ALS1 sample

characteristic: title


characteristic: DNA id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Huntington disease

text: 24 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Code 173;clinically affected;onset at age 30 yrs;last examined on 2/3/82;affected parents are GM04479A & GM04477B;9 affected sibs & 2 with probable HD;see GM04837 Fibroblast. Investigators ordering this cell line may;after receiving the culture;tender a request in writing for the available CAG repeat data for this individual.

text: maternal cousin

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Huntington disease

text: HD

text: GM05376 male affected Huntington disease sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 59 YR

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Control

text: Population/convenience control

text: ND09376 male unaffected Control sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 24 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: 46;XX;12% of cells show random chromosome loss

characteristic: description

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: Apparently healthy non-fetal tissue

text: GM05377 female unaffected Apparently healthy individuals with normal psychiatric evaluations sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 46 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: niece

text: Homo sapiens

text: Caucasian

text: Female

text: ND09379 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: Retinitis pigmentosa

text: 30 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;diagnosed at age 18;problems with night vision by age 4-5;increasing difficulty with light and dark adaptation;depth perception;and peripheral vision;visual fields markedly constricted;fundi showed pigmented spicules of the periphery;waxy pallor of disc;generalized arteriolar narrowing;cataract;flat ERG;EOG value of 108%;see GM05379 Lymphoid

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Retinitis pigmentosa

text: RP

text: GM05378 female affected Retinitis pigmentosa sample


text: Coriell

text: live

text: Generic

text: 45 YR

text: B-Lymphocyte

text: NINDS Repository

text: nephew

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: ND09380 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Retinitis pigmentosa

text: 30 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;diagnosed at age 18;problems with night vision by age 4-5;increasing difficulty with light and dark adaptation;depth perception;and peripheral vision;visual fields markedly constricted;fundi showed pigmented spicules of the periphery;waxy pallor of disc;generalized arteriolar narrowing;cataract;flat ERG;EOG value of 108%;see GM05378 fibroblast

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Retinitis pigmentosa

text: RP

text: GM05379 female affected Retinitis pigmentosa sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 61 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Parkinson disease

text: ND09381 male affected Parkinson disease sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 32 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: 46;XX;4% of cells show random chromosome loss

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Apparently healthy non-fetal tissue

text: GM05380 female unaffected Apparently healthy individuals with normal psychiatric evaluations sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 50 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Subarachnoid hemorrhage

characteristic: tag

text: ND09387 female affected Subarachnoid hemorrhage sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 5 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Umbilical area skin

characteristic: description

text: Homo sapiens

text: Black

text: Male

text: Apparently healthy non-fetal tissue

text: GM05381 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

text: Generic

text: Intracranial rupture-status undefined

text: 85 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Intracranial rupture-status undefined

text: ND09391 female affected Intracranial rupture-status undefined sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 27 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;proband not in Repository;unbalanced child showed mental retardation;developmental delay;seizures;dysmorphic facial features;syndactyly;and optic atrophy

text: parent

text: 46;XX;t(7;18)(7pter>7q36::18q12.2> 18qter;18pter>18q12.2::7q36>7qter)

text: Homo sapiens

text: Caucasian

text: Female

text: Translocated chromosome

text: GM05382 female unaffected Translocated chromosome sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 59 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Amyotrophic lateral sclerosis 1

text: ND09393 female affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 20 FW

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Skin biopsy;14.0 cm crown-rump length

text: proband

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Apparently healthy fetal tissue

text: GM05386 male unaffected Apparently healthy fetal tissue sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: 61 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND09393

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: Population/convenience control

text: Neurologically normal caucasian control panel

text: ND09394 male unaffected Dna control panel for late onset parkinsons: unaffected individuals sample


text: Coriell

text: live

text: Generic

text: 20 FW

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Lung biopsy;14.0 cm crown-rump length

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Apparently healthy fetal tissue

text: GM05387 male unaffected Apparently healthy fetal tissue sample


text: Coriell

text: live

text: Generic

text: 69 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected spouse of ND09396

characteristic: family id

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND09397 female unaffected Dna control panel for late onset parkinsons: unaffected individuals sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 20 FW

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Skin biopsy;13.5 cm crown-rump length

text: twin

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Apparently healthy fetal tissue

text: GM05388 male unaffected Apparently healthy fetal tissue sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: Amyotrophic lateral sclerosis 1

text: 61 YR

text: B-Lymphocyte

text: NINDS Repository

text: UNKNOWN (PT. ADOPTED)

characteristic: ethnicity

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND09403 male affected Amyotrophic lateral sclerosis 1 sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: 20 FW

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Lung biopsy;13.5 cm crown-rump length

text: twin

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Apparently healthy fetal tissue

text: GM05389 male unaffected Apparently healthy fetal tissue sample


text: Coriell

text: live

text: Generic

text: 57 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: GREEK;ENGLISH/SCOTTISH

text: proband

characteristic: gene

text: (GGGGCC)n EXPANSION

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: Als panel upper-limb onset probable and possible als

text: Amyotrophic lateral sclerosis 1

text: ND09407 male affected Ndpt116 - als panel: caucasians from north america upper-limb onset sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 27 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: 46;XX;8% of cells show random chromosome loss

characteristic: description

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Apparently healthy non-fetal tissue

text: GM05392 female unaffected Apparently healthy individuals with normal psychiatric evaluations sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

text: 53 YR

text: B-Lymphocyte

text: NINDS Repository

text: FRENCH;ENGLISH

characteristic: ethnicity

characteristic: family id

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Population/convenience control

text: ND09408 female unaffected Control panel for young onset parkinsons: unaffected individuals sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: 3 MO

characteristic: age

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Prominent forehead;low set ears;flat nasal bridge;high arched palate;micrognathia;short neck;bilateral simian crease;and hypoplastic toenails

text: 46;XY;der(4)(4pter>4q35:: 9p21>9pter)mat;46;XY;der(4)t(4;9)(4pter->4q34::9p13->9pter)mat.arr 4q34.3q35.2(180450544-191254119)x1;8p23.1(7204273-7836249)x1;9p24.3p13.3(36586-35405698)x3

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Translocated chromosome

text: GM05394 male unaffected Translocated chromosome sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 59 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: ENGLISH;GERMAN

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: Population/convenience control

text: ND09409 female unaffected Dna control panel for late onset parkinsons: unaffected individuals sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 2 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Pixie-like appearance;simple ears;high palatine arch;micrognathia;hypotonia;poor weight gain;X chromosome portion of derivative chromosome is late replicating

characteristic: description

text: 45;X;der(22)t(X;22)(Xqter> Xp11::22p12>22qter)

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Dicentric chromosome

text: GM05396 female unaffected Dicentric chromosome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Ischemic stroke

text: 77 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Ischemic stroke

text: ND09411 male affected Ischemic stroke sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: 44 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: 46;XY;2% of cells show random chromosome loss

text: 46;XY;46;XY;i(18)(qter>q10::q10>qter) 5 /46;XY;add(18)(qter>p11.3::?) 3 /46;XY;r(18)(::p11.3>q23::) 3 /46;XY/ 39

text: Homo sapiens

text: Caucasian

text: Male

text: Apparently healthy non-fetal tissue

text: GM05398 male unaffected Apparently healthy individuals with normal psychiatric evaluations sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 75 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND09412 female unaffected Population/convenience control sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 1 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Skin biopsy (inguinal);46;XY;8% of cells show random chromosome loss and 4% are polyploid

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Apparently healthy non-fetal tissue

text: GM05399 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Subarachnoid hemorrhage

text: 61 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: aunt

text: Homo sapiens

text: Caucasian

text: Female

text: Subarachnoid hemorrhage

characteristic: tag

text: Subarachnoid hemorrhage, caucasian from north america

text: ND09431 female affected Subarachnoid hemorrhage sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 6 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Skin biopsy (inguinal);46;XY;6% of cells show random chromosome loss and 2% are tetraploid

characteristic: description

text: Homo sapiens

text: Black

text: Male

text: Apparently healthy non-fetal tissue

text: GM05400 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 62 YR

text: B-Lymphocyte

text: NINDS Repository

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Control

text: Population/convenience control

text: ND09434 male unaffected Control sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 3 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;unbalanced familial chromosome translocation and partial DiGeorge syndrome;truncus arteriosus;type I;T-cell dysfunction;micrognathia;high-arched palate;downslanting palpebral fissures;broad nasal bridge;broad philtrum;normal parathyroid function;paternal chromosomes 46;XY;mother found to have the same unbalanced translocation as affected child;first son born to the mother died at 2 months of age and was thought to have a congenital heart defect;second son born to the mother died at 11 months of age and autopsy found Type I truncus arteriosus;thymic aplasia;and parathyroid hypoplasia.

text: 45;XY;der(4)(4pter>4q35::22q11>22qter)mat;-22;45;XY;der(4)t(4;22)(4pter->4q35::22q11.2->22qter)mat;-22.arr 4q35.2(191074864-191254119)x1;22q11.1q11.21(15037288-18401938)x1

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: DGS

text: Translocated chromosome

text: Digeorge syndrome

text: GM05401 male unaffected Digeorge syndrome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 63 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Homo sapiens

text: Caucasian

text: Female

text: Als panel upper-limb onset probable and possible als

text: Amyotrophic lateral sclerosis 1

text: ND09435 female affected Ndpt116 - als panel: caucasians from north america upper-limb onset sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Dystrophia myotonica 1

text: 33 YR

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;mild weakness in hands;gallstones;abdominal pain and frequent diarrhea;weakness and myotonia of grip;mild weakness of foot extension;mild myotonic facies;pseudohypertrophy of the calves;percussion myotonia of the thenar eminences;history of infertility;elevated CPK;normal EKG

text: Homo sapiens

text: Caucasian

text: Female

text: Dystrophia myotonica 1

text: GM05404 female affected Dystrophia myotonica 1 sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Als panel caucasian from the us

text: 69 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND09887

text: ITALIAN

characteristic: ethnicity

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Als panel caucasian from the us

text: Amyotrophic lateral sclerosis 1

text: ND09439 male affected Als panel caucasian from the us sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 28 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: 46;XX;6% of cells show random chromosome loss/gain

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: Apparently healthy non-fetal tissue

text: GM05408 female unaffected Apparently healthy individuals with normal psychiatric evaluations sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

text: 36 YR

text: B-Lymphocyte

text: NINDS Repository

text: Affected son is ND08335 unaffected spouse is ND08334.

characteristic: description

text: father

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: ND09443 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 28 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;unbalanced daughter was multiply malformed

text: 46;XY;t(5;17)(5pter>5q33::17p12>17pter;17qter>17p12::5q33>5qter)

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Translocated chromosome

text: GM05409 male unaffected Translocated chromosome sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 53 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected spouse is ND09467

text: CZECH;UKRANIAN

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Als panel

text: Greater than 7 years survival

text: Als panel caucasian from the us

text: Amyotrophic lateral sclerosis 1

text: ND09466 female affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 20 FW

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Conjunctiva biopsy;13.5 cm crown-rump length;46;XY;same patient as GM05388 and 05389;monozygotic twin of GM05421

characteristic: family id

text: twin brother

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Apparently healthy fetal tissue

text: Monozygotic twin pairs

text: GM05420 male unaffected Apparently healthy fetal tissue sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 52 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: IRISH;WELSH;ITALY

characteristic: ethnicity

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: Neurologically normal caucasian control panel

text: ND09467 male unaffected Control panel for young onset parkinsons: unaffected individuals sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

text: 20 FW

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Conjunctiva biopsy;14.0 cm crown-rump length;46;XY;same patient as GM05386B and 05387;monozygotic twin of GM05420

text: proband

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Apparently healthy fetal tissue

characteristic: tag

text: Monozygotic twin pairs

text: GM05421 male unaffected Apparently healthy fetal tissue sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Parkinson disease

text: 48 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Parkinson disease

text: ND09471 female affected Parkinson disease sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 28 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: 46;XX;4% of cells show random chromosome loss

characteristic: description

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Apparently healthy non-fetal tissue

text: GM05422 female unaffected Apparently healthy individuals with normal psychiatric evaluations sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: 77 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND09472 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 32 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Apparently healthy non-fetal tissue

text: GM05423 female unaffected Apparently healthy individuals with normal psychiatric evaluations sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

text: 52 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: ND09473 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 2 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: XP1PO;erythema;freckling;scaling;and drying of skin;neurological problems;imperforate anus;and peripheral pulmonic stenosis;paternal side of family has a history of Charcot-Marie-Tooth disease;46;XY

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: XPD

text: GM05424 male affected Xeroderma pigmentosum, complementation group d sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 50 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: ND09474 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: Fragile site 10q25

text: 28 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: See GM05523B Lymphoid;fra(10)(q25) observed in 12% of cells at P17;short stature;late menarche;irregular menses;small uterus;small ovaries;aortic insufficiency;myopia;& cataracts

characteristic: description

text: proband

text: 46;XX;fra(10)(q25) fra(10)(q25) in 12% of cells at P17

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Marker chromosome

text: Fragile site 10q25

text: GM05425 female affected Fragile site 10q25 sample

characteristic: title