text: Coriell

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 78 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND10620 male affected Amyotrophic lateral sclerosis 1 sample


status: PUBLIC

characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Amyotrophic lateral sclerosis 1

tag: attribute

text: 68 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

characteristic: sex

characteristic: tag

text: Amyotrophic lateral sclerosis 1

text: ND10621 male affected Amyotrophic lateral sclerosis 1 sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 20 FW

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Lung biopsy;same patient as GM06113;46;XY;12% of cells show random chromosome loss

characteristic: description

text: proband

text: 46;XY;inv(21)(pter->?q21.1::q21.2->q21.1::q21.3->qter);arr 8p23.1(7242445-7825360)x1

characteristic: karyotype

text: Homo sapiens

text: Black

text: Male

text: Apparently healthy fetal tissue

text: GM06114 male unaffected Apparently healthy fetal tissue sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 58 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: Amyotrophic lateral sclerosis 1

text: ND10622 male affected ALS1 sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 46 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Asymptomatic;50% of normal RBC carbonic anhydrase II activity

text: paternal aunt

text: Homo sapiens

text: Caucasian

text: Female

text: GM06119 female unaffected Osteopetrosis with renal tubular acidosis sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Amyotrophic lateral sclerosis 1

text: 45 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND10595

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND10623 male affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 70 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND11146

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND10624 male affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

text: live

text: Generic

text: TS

text: 22 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;diagnosed at age 5;seizures began at 5 months of age;retinal lesion at inferior medial aspect of the left disc;numerous facial angiofibromas in a butterfly distribution;adenoma sebaceum;multiple hypopigmented macules over the back and extremities;some noted initially at birth;various papular fibromatous lesions over the posterior trunk;shagreen patch on right flank;multiple skin tags on anterior chest and neck;irregular cafe-au-lait spot over the left trunk and left knee;confetti like hypopigmented macules on anterior shins;ungual fibromas on left fifth finger;second and fifth toe on right foot and second toe on left foot;intelligence is at lower end of the average range per WAIS performance;normal kidney ultrasound at age 21;CT scan at age 18 noted subependymal calcifications;abnormal EEG;no mutations were identified in the TSC1 or TSC2 genes using PCR direct sequencing of all coding exons and 50 bases of the flanking intron;polymorphisms in TSC2 include 1578C>T;1600-14C>T;2546-12C>T;2580T>C;2639+44C>G;5202T>C;and 5397G>C;same donor as GM06121 fibroblast.

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Tuberous sclerosis

characteristic: tag

text: Tsc2 gene

text: TS

text: GM06120 male affected TS sample


text: Coriell

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 58 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected spouse is ND10596

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND10625 male affected Amyotrophic lateral sclerosis 1 sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: TS

text: 22 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;diagnosed at age 5;seizures began at 5 months of age;retinal lesion at inferior medial aspect of the left disc;numerous facial angiofibromas in a butterfly distribution;adenoma sebaceum;multiple hypopigmented macules over the back and extremities;some noted initially at birth;various papular fibromatous lesions over the posterior trunk;shagreen patch on right flank;multiple skin tags on anterior chest and neck;irregular cafe-au-lait spot over the left trunk and left knee;confetti like hypopigmented macules on anterior shins;ungual fibromas on left fifth finger;second and fifth toe on right foot and second toe on left foot;intelligence is at lower end of the average range per WAIS performance;normal kidney ultrasound at age 21;CT scan at age 18 noted subependymal calcifications;abnormal EEG;no mutations were identified in the TSC1 or TSC2 genes using PCR direct sequencing of all codong exons and 50 bases of the flanking intron;polymorphisms in TSC2 include 1578C>T;1600-14C>T;2546-12C>T;2580T>C;2639+44C>G;5202T>C;and 5397G>C;same donor as GM06120 lymphocyte.

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tuberous sclerosis

text: Tsc2 gene

text: TS

text: GM06121 male affected TS sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 68 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected spouse is ND10611

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Primary lateral sclerosis

text: ND10627 female affected Primary lateral scleroris: caucasian, non-hispanic sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Progressive muscular atrophy

text: 66 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND10657

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Progressive muscular atrophy

text: ND10647 male affected Progressive muscular atrophy sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 30 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: 45% of normal lysosomal acid lipase activity;clinically unaffected father of GM06144;heterozygous for LIPA gene mutation c.796G>T(p.G266X)

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Wolman disease

text: GM06122 male unaffected Wolman disease sample


text: Coriell

text: live

text: Generic

text: Progressive muscular atrophy

text: 55 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unafected spouse is ND10654

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Progressive muscular atrophy

text: ND10648 male affected Progressive muscular atrophy sample


text: Coriell

text: live

text: Generic

text: 25 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: 50% of normal lysosomal acid lipase activity;clinically unaffected mother of GM06144;heterozygous for LIPA gene mutation c.594dupT(p.A199Cfs*13

characteristic: family id

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Wolman disease

text: GM06123 female unaffected Wolman disease sample


text: Coriell

text: live

text: Generic

text: 63 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND10657

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Als panel

text: Greater than 7 years survival

text: Amyotrophic lateral sclerosis 1

text: ND10650 female affected ALS1 sample


text: Coriell

text: live

text: Generic

text: 66 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected spouse of ND10647

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: Population/convenience control

text: Neurologically normal caucasian control panel

text: ND10653 female unaffected Dna control panel for late onset parkinsons: unaffected individuals sample


text: Coriell

text: live

text: Generic

text: Wolman disease

text: 3 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Hepatomegaly;adrenal calcification;less than 5% of normal lysosomal acid lipase activity;absence of A band electrophoretically

characteristic: description

text: Homo sapiens

text: Caucasian

text: Female

text: Wolman disease

text: GM06124 female affected Wolman disease sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 50 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND10648

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND10654 female unaffected Population/convenience control sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 16 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Recurrent coma;dicarboxylicaciduria;less than 10% of normal medium-chain Acyl CoA dehydrogenase activity;non-ketotic hypoglycemia;see GM07523 Lymph;homozygous for 985A>G {Lys304Glu (K304E)} mutation of ACADM (MCAD)

text: proband

text: ACADM

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: ACADM

text: Acyl-coa dehydrogenase, medium-chain

text: GM06125 female affected ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 63 YR

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Control

text: Population/convenience control

text: ND10657 male unaffected Control sample


text: Coriell

text: live

text: Generic

text: 58 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Control

text: Population/convenience control

text: ND10661 female unaffected Control sample


text: Coriell

text: live

text: Generic

text: 3 MO

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Carnitine deficiency in plasma and liver;persistent cardiomyopathy;skeletal muscle weakness;fasting hypoglycemia;deficiency of leukocyte long-chain Acyl CoA dehydrogenase;fibro have profoundly reduced oxidation of long-chain fatty acids

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

characteristic: tag

text: GM06127 male affected ACYL-CoA DEHYDROGENASE, LONG-CHAIN, DEFICIENCY OF sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 56 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND10661

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Primary lateral sclerosis

text: ND10662 male affected Primary lateral scleroris: caucasian, non-hispanic sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 29 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Unipolar illness;onset at age 20;3 episodes of depression treated with ECT & Lithium

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: GM06128 female affected Major affective disorder - 125480 or 309200 sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 68 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND10668

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Amyotrophic lateral sclerosis 1

text: ND10667 female affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 66 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND10667

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: ND10668 male unaffected Control panel for late onset parkinsons: unaffected individuals sample


text: Coriell

text: live

text: Generic

text: 28 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal

text: mother

text: 46;XX;t(10;21)(10qter>10p11.2::21q22.3> 21qter;21pter>21q22.3::10p11.2>10pter)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Translocated chromosome

text: GM06135 female unaffected Translocated chromosome sample


text: Coriell

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 61 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: family id

text: sister

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Subarachnoid hemorrhage

text: ND10673 female affected Subarachnoid hemorrhage sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 2 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Multiple congenital anomalies;bilateral cleft lip and palate;absent patellae;severe calcaneo valgus & metatarsus abductus

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Translocated chromosome

characteristic: tag

text: GM06136 male unaffected Translocated chromosome 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

text: Population/convenience control

text: ND10678 male unaffected Population/convenience control sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 36 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected spouse of ND10326

characteristic: description

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND10680 female unaffected Control panel for young onset parkinsons: unaffected individuals sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 49 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Normal psychiatric evaluation;type I bipolar daughter is GM05215 Fibroblast

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: GM06138 male unaffected Major affective disorder - 125480 or 309200 sample


text: Coriell

text: live

text: Generic

text: 67 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: family id

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Control

text: Population/convenience control

text: ND10684 male unaffected Control sample


text: Coriell

text: live

text: Generic

text: 44 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Depressive personality;onset at age 13 yrs;premenstrual depression & irritability;type I bipolar daughter is GM05215 Fibroblast

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: GM06139 female affected Major affective disorder - 125480 or 309200 sample


text: Coriell

text: live

text: Generic

text: 55 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

characteristic: tag

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

text: Amyotrophic lateral sclerosis 1

text: ND10688 female affected Ndpt116 - als panel: caucasians from north america upper-limb onset sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 54 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Normal psychiatric evaluation;3 sibs with primary affective disorders

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: GM06140 female unaffected Major affective disorder - 125480 or 309200 sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Human erythroleukemic cell lines

text: 30 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Line HEL;derived from the peripheral blood of a patient with Hodgkin's disease who later developed erythroleukemia;negative for EBVNA;immunoglobulins;and T-lymphoid cell surface antigens;produces mainly Hb Barts in response to hemin

text: Modal no. of chromosomes is 62;range is 55 to 64;all cells are XYY;marker chromosomes include #9;#11;and #18

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Human erythroleukemic cell lines

text: GM06141 male affected Human erythroleukemic cell lines sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 51 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

characteristic: gene

text: (GGGGCC)n EXPANSION

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Amyotrophic lateral sclerosis 1

text: ND10689 female affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 7 MO

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Phenotypically normal except for recurrent mild thrush;Santo Domingan;partial ADA deficiency;<1% of ADA activity in RBCs;normal ADA activity in peripheral blood mononuclear cells;65% ADA activity in lymphoblasts;normal immunoglobulins;T cells 80% of normal;normal response to mitogens;donor subject is homozygous for a C>A transversion in exon 10 of the ADA gene resulting in a substitution of glutamine for proline at codon 297 Pro297Gln (P297Q) .

characteristic: description

text: ADA

text: Homo sapiens

text: Caucasian

text: Male

text: Adenosine deaminase

text: ADA

text: GM06142 male unaffected Adenosine deaminase deficiency with no immunodeficiency sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 54 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND11325

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

characteristic: sex

characteristic: tag

text: Amyotrophic lateral sclerosis 1

text: ND10698 male affected Ndpt116 - als panel: caucasians from north america upper-limb onset sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 52 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND10700

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: Neurologically normal caucasian control panel

text: ND10699 female unaffected Control panel for young onset parkinsons: unaffected individuals sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 9 MO

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Phenotypically normal;Santo Domingan;partial ADA deficiency;several intermittent infections;normal growth and development;<1% normal ADA activity in RBCs;normal ADA activity in peripheral blood mononuclear cells;percentage of T cells normal;normal response to mitogens;86% of normal ADA activity in lymphoblasts;donor subject is a compound heterozygote: one allele has a G>A transition at nucleotide 446 in exon 5 of the ADA gene 446G>A resulting in a substitution of glutamine for arginine at codon 149 Arg149Gln (R149Q) and a second allele has a C>A transversion in exon 10 of the ADA gene resulting in a substitution of glutamine for proline at codon 297 Pro297Gln (P297Q);affected sibling;parents are GM06415 and GM06416.

text: SANTO DOMINGAN

characteristic: ethnicity

text: proband

text: ADA

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Severe combined immunodeficiency autosomal recessive

text: Adenosine deaminase

text: ADA

text: GM06143 male unaffected T cell-negative, b cell-negative, nk cell-negative due to adenosine deaminase deficiency sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Amyotrophic lateral sclerosis 1

text: 60 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected spouse is ND10699

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Als panel: caucasians from north america lower-limb onset

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

text: Als panel caucasian from the us

text: Amyotrophic lateral sclerosis 1

text: ND10700 male affected Amyotrophic lateral sclerosis 1 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Wolman disease

text: 2 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Hepatosplenomegaly;adrenal calcification;deficient lysosomal acid lipase activity;heterozygous for LIPA gene mutations c.594dupT(p.A199Cfs*13) and c.796G>T(p.G266X)

characteristic: description

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Wolman disease

text: GM06144 male affected Wolman disease sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 49 YR

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Subarachnoid hemorrhage

characteristic: tag

text: ND10716 male affected Subarachnoid hemorrhage sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Primary lateral sclerosis

text: 61 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected spouse is ND10723

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Primary lateral sclerosis

text: Als panel

text: Greater than 7 years survival

text: Primary lateral scleroris: caucasian, non-hispanic

text: ND10721 female affected Primary lateral sclerosis sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: TS

text: 17 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;seizures;hypopigmented macules on right shoulder;right thigh;left chest;right knee;lower back and right upper arm;caf -au-lait spot on right wrist;confetti hypopigmentation over back and legs;myopia;at age 17 there were no shagreen patches;ungual fibromas or adenoma sebaceum;calcifications in brain;donor subject is heterozygous for G>A transition at nucleotide 2249 in exon 18 of the TSC1 gene 2249G>A resulting in a substitution of a termination signal for tryptophan at codon 750 Trp750Ter (W750X);polymorphisms in the TSC1 gene include 2829C>T;polymorphisms in the TSC2 gene include 479-3C>T;5161-10A>C;5202T>C;5259+72C>T;affected father is GM06148 Fibroblast and affected brother is GM06150 Fibroblast;same donor as GM06149 fibroblast.

text: proband

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Tuberous sclerosis

text: Tsc1 gene

text: TS

text: GM06146 male affected TS sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 50 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected spouse of ND10732

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND10722 female unaffected Control panel for young onset parkinsons: unaffected individuals sample


text: Coriell

text: live

text: Generic

text: Tuberous sclerosis

text: 43 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;seizures;adenoma sebaceum;ungual fibromas on fourth and fifth fingers on left hand and on all toes;fibroma on soles of both feet and soft fibromas with overlying hyperpigmentation on the back at the waist;hypopigmented macuales on right and left flank and two on right lower leg;confetti hypopigmentation on back and possibly legs;intelligence is in high average range per WAIS evaluation;normal eye exam;affected sons are GM06149 and GM06150.

characteristic: description

characteristic: family id

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Tuberous sclerosis

text: TS

text: GM06148 male affected Tuberous sclerosis sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 70 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Amyotrophic lateral sclerosis 1

text: ND10724 male affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: TS

text: 17 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;seizures;hypopigmented macules on right shoulder;right thigh;left chest;right knee;lower back and right upper arm;caf -au-lait spot on right wrist;confetti hypopigmentation over back and legs;myopia;at age 17 there were no shagreen patches;ungual fibromas or adenoma sebaceum;calcifications in brain;donor subject is heterozygous for G>A transition at nucleotide 2249 in exon 18 of the TSC1 gene 2249G>A resulting in a substitution of a termination signal for tryptophan at codon 750 Trp750Ter (W750X);polymorphisms in the TSC1 gene include 2829C>T;polymorphisms in the TSC2 gene include 479-3C>T;5161-10A>C;5202T>C;5259+72C>T;affected father is GM06148 and affected brother is GM06150;same donor as GM06146 lymphocyte.

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tuberous sclerosis

characteristic: tag

text: Tsc1 gene

text: TS

text: GM06149 male affected TS sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 44 YR

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND10726 female unaffected Control panel for young onset parkinsons: unaffected individuals sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 56 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: Neurologically normal caucasian control panel

text: ND10727 female unaffected Dna control panel for late onset parkinsons: unaffected individuals sample


text: Coriell

text: live

text: Generic

text: Tuberous sclerosis

text: 15 YR

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;hypopigmented macules on left lower back;left lateral thigh;left medial thigh and right knee;calcifications in brain;myopia;retinal lesion;at age 15 there were no shagreen patches;ungual fibromas;adenoma sebaceum;cafe-au-laits;confetti hypopigmentation;or seizures;affected father is GM06148 and affected brother is GM06149.

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Tuberous sclerosis

text: TS

text: GM06150 male affected Tuberous sclerosis sample


text: Coriell

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 58 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND10727

characteristic: description

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Als panel

text: Greater than 7 years survival

text: Als panel caucasian from the us

text: Amyotrophic lateral sclerosis 1

text: ND10729 male affected Amyotrophic lateral sclerosis 1 sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: MJD

text: 38 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Portuguese;affected father and two sibs;SCA Type III (SCA3): ataxia;nystagmus;and dysarthria;allele 1 has 24 CAG repeats in the ATXN3 (MJD) gene;allele 2 has 74 CAG repeats

text: PORTUGUESE

characteristic: ethnicity

text: proband

characteristic: gene

text: (CAG)n EXPANSION

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Ataxin 3

text: MJD

text: Machado-joseph disease

text: GM06151 male affected MJD sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 47 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected spouse is ND10722

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Als panel bulbar onset all definite als

text: Als panel caucasian from the us

text: Amyotrophic lateral sclerosis 1

text: ND10732 male affected ALS1 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Amyotrophic lateral sclerosis 1

text: 46 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Affected sister is ND10735

text: PORTUGUESE

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: Amyotrophic lateral sclerosis 1

text: ND10734 female affected Amyotrophic lateral sclerosis 1 sample

characteristic: title


text: Coriell

text: live

text: Generic

text: MJD

text: 44 YR

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Portuguese;affected father and 2 sibs;SCA Type III (SCA3): slight ataxia;dysarthria;and nystagmus;allele 1 has 23 CAG repeats in the ATXN3 (MJD) gene;allele 2 has 71 CAG repeats

characteristic: description

text: PORTUGUESE

characteristic: ethnicity

characteristic: family id

text: brother

text: (CAG)n EXPANSION

text: Homo sapiens

text: Caucasian

text: Male

text: Ataxin 3

text: MJD

text: Machado-joseph disease

text: GM06153 male affected MJD sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 53 YR

text: B-Lymphocyte

text: NINDS Repository

text: Affected sister is ND10734

text: PORTUGUESE

text: sister

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Amyotrophic lateral sclerosis 1

text: ND10735 female affected Amyotrophic lateral sclerosis 1 sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 25 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: 46;XY;14% of cells show random chromosome loss/gain;donor subject is heterozygous for the Cys282Tyr mutation (C282Y) of the HFE (HLA-H) gene and is also heterozygous for a C-to-T substitution at nucleotide 677 that converts an alanine to a valine residue in the methylenetetrahydrofolate reductase (MTHFR) gene (677C-T)

text: proband

text: HFE;MTHFR

characteristic: gene

characteristic: karyotype

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Hemochromatosis

text: Apparently healthy individuals with normal psychiatric evaluations

text: HFE

text: MTHFR

text: Apparently healthy non-fetal tissue

text: Human gene mutation panel - hemochromatosis

text: 5,10-methylenetetrahydrofolate reductase

text: GM06160 male unaffected Apparently healthy non-fetal tissue sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Amyotrophic lateral sclerosis 1

text: 34 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: SWEDEN

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

characteristic: tag

text: Amyotrophic lateral sclerosis 1

text: ND10739 male affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 75 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected spouse of ND10746

characteristic: description

characteristic: family id

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND10745 female unaffected Dna control panel for late onset parkinsons: unaffected individuals sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 20 FW

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Skin biopsy;46;XY;2% of cells show random chromosome gain and 2% show random chromosomal aberrations;same patient as GM06167

text: proband

text: Homo sapiens

characteristic: organism

text: Black

characteristic: race

text: Male

text: Apparently healthy fetal tissue

text: GM06166 male unaffected Apparently healthy fetal tissue sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: PD

text: 78 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinsons panel: caucasian from north america

text: Late onset parkinsons dna panel: affected individuals

text: PD

text: Parkinson disease

text: ND10746 male affected PD sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 20 FW

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Lung biopsy;46;XY;2% of cells show random chromosome loss;same patient as GM06166A

text: proband

characteristic: karyotype

text: Homo sapiens

text: Black

text: Male

text: Apparently healthy fetal tissue

text: GM06167 male unaffected Apparently healthy fetal tissue sample


text: Coriell

text: live

text: Generic

text: 77 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected spouse of ND10751

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Control

characteristic: tag

text: Population/convenience control

text: Neurologically normal caucasian control panel

text: ND10750 female unaffected Control sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Parkinson disease

text: 76 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected spouse is ND10753

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: PD

text: Parkinson disease

text: ND10752 female affected Parkinson disease sample


text: Coriell

text: live

text: Generic

text: 20 FW

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Skin biopsy;46;XY;8% of cells show random chromosome loss;same patient as GM06169

characteristic: description

characteristic: family id

text: proband

text: Homo sapiens

text: Black

text: Male

text: Apparently healthy fetal tissue

text: GM06168 male unaffected Apparently healthy fetal tissue sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 83 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND10752

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: ND10753 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 20 FW

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Lung biopsy;46;XY;6% of cells show random chromosome loss;same patient as GM06168

text: proband

text: Homo sapiens

characteristic: organism

text: Black

characteristic: race

text: Male

text: Apparently healthy fetal tissue

text: GM06169 male unaffected Apparently healthy fetal tissue sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Amyotrophic lateral sclerosis 1

text: 68 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND10769

text: proband

text: Homo sapiens

text: Caucasian

text: Female

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: ND10768 female affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

text: live

text: Generic

text: 80 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected spouse of ND10768

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Population/convenience control

text: ND10769 male unaffected Control panel for late onset parkinsons: unaffected individuals sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 20 FW

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Skin biopsy;46;XY;6% of cells show random chromosome loss;same patient as GM06171

text: proband

characteristic: karyotype

text: Homo sapiens

text: Black

text: Male

text: Apparently healthy fetal tissue

characteristic: tag

text: GM06170 male unaffected Apparently healthy fetal tissue sample


text: Coriell

text: live

text: Generic

text: Als panel caucasian from the us

text: 65 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected spouse is ND10775

characteristic: description

text: proband

characteristic: gene

text: (GGGGCC)n EXPANSION

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Als panel caucasian from the us

text: Amyotrophic lateral sclerosis 1

text: ND10773 male affected Als panel caucasian from the us sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 20 FW

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Lung biopsy;46;XY;8% of cells show random chromosome loss/gain;same patient as GM06170

characteristic: family id

text: proband

text: Homo sapiens

text: Black

text: Male

text: Apparently healthy fetal tissue

text: GM06171 male unaffected Apparently healthy fetal tissue sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 61 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND10773

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Population/convenience control

text: ND10775 female unaffected Dna control panel for late onset parkinsons: unaffected individuals sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 4 MO

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Negative family history;coarse facies;frontal bossing;midface retraction;hypertelorism;facial hemangiomata;short up-turned nose;& unusually malformed ears;generalized skeletal dysplasia;bilateral hydronephrosis

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: GM06172 female affected Schinzel-giedion midface-retraction syndrome sample


text: Coriell

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 61 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: Amyotrophic lateral sclerosis 1

text: ND10780 female affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 36 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Type I bipolar illness;antisocial behavior;bereavement reaction;alcoholism;onset at age 19;10 episodes of minor depression;1 episode of mania

characteristic: description

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: GM06174 male affected Major affective disorder - 125480 or 309200 sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 42 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND10784

text: proband

text: Homo sapiens

text: Caucasian

text: Male

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

text: Amyotrophic lateral sclerosis 1

text: ND10782 male affected ALS1 sample


text: Coriell

text: live

text: Generic

text: 52 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND10787

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Primary lateral sclerosis

text: ND10783 female affected Primary lateral scleroris: caucasian, non-hispanic sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: TS

text: 15 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;seizures;mitral valve prolapse diagnosed via echocardiogram;skull x-ray noted periventricular calcifications;donor subject is heterozygous for a C>T transition at nucleotide 1831 in exon 16 of the TSC2 gene 1831C>T resulting in a substitution of tryptophan for arginine at codon 611 Arg611Trp (R611W);son of GM06194.

text: proband

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Tuberous sclerosis

text: Tsc2 gene

text: TS

text: GM06188 male affected TS sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 46 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND10782

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Population/convenience control

text: ND10784 female unaffected Population/convenience control sample


text: Coriell

text: live

text: Generic

text: 49 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically unaffected;no mutations were identified in the TSC1 or TSC2 genes using PCR direct sequencing of all coding exons and 50 bases of the flanking intron;affected son is GM06188.

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Tuberous sclerosis

text: TS

text: GM06194 female unaffected Tuberous sclerosis sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 65 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Control

characteristic: tag

text: Population/convenience control

text: ND10786 male unaffected Control sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 53 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Control

text: Population/convenience control

text: ND10787 male unaffected Control sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Bardet-biedl syndrome

text: 34 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Pigmentary retinal degeneration;abnormal electro-retinograms;bilateral macular degeneration;posterior subcapsular lens opacities;mental retardation;nystagmus;polydactyly;see GM06196 Fibro

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: BBS

text: Bardet-biedl syndrome

text: GM06195 male affected Bardet-biedl syndrome sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 31 YR

text: B-Lymphocyte

text: NINDS Repository

text: daughter

text: Homo sapiens

text: Female

text: ND10788 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: Bardet-biedl syndrome

text: 34 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Pigmentary retinal degeneration;abnormal electro-retinograms;bilateral macular degeneration;posterior subcapsular lens opacities;mental retardation;nystagmus;polydactyly;see GM06195 Lymph

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: BBS

text: Bardet-biedl syndrome

text: GM06196 male affected Bardet-biedl syndrome sample


text: Coriell

text: live

text: Generic

text: Als panel caucasian from the us

text: 59 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND10836

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Als panel caucasian from the us

text: Amyotrophic lateral sclerosis 1

text: ND10802 male affected Als panel caucasian from the us sample


text: Coriell

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 72 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected spouse is ND10811

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Amyotrophic lateral sclerosis 1

text: ND10807 male affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 66 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: BBS

text: Bardet-biedl syndrome

text: GM06197 female unaffected Bardet-biedl syndrome sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 63 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND10807

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: Population/convenience control

text: Neurologically normal caucasian control panel

text: ND10811 female unaffected Dna control panel for late onset parkinsons: unaffected individuals sample


characteristic: DNA id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Fibroblast culture (foreskin);incarcerated inguinal hernia;no apparent dysmorphic features;94% of cells have r(21) at P7;no evidence of sickle cell disease or trait using DNA analysis;mother (HbAS) is GM08779A Lymphoid

characteristic: family id

text: proband

characteristic: karyotype

text: Homo sapiens

text: Black

text: Male

text: Ring chromosome

text: GM06199 male unaffected Ring chromosome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 58 YR

text: B-Lymphocyte

text: NINDS Repository

text: control family

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND10816 female unaffected Population/convenience control sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 61 YR

text: B-Lymphocyte

text: NINDS Repository

text: control family

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Population/convenience control

text: ND10817 male unaffected Dna control panel for late onset parkinsons: unaffected individuals sample


text: Coriell

text: live

text: Generic

text: 3 MO

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Phenotypically normal except for recurrent thrush;partial ADA deficiency;not lymphopenic;normal mitogen responses;total lymphocytes;and percentage of T cells;30% of normal ADA activity in lymphoblasts;<1% of normal ADA activity in RBC's;donor subject is homozygous for a C>T transition at nucleotide 226 in exon 4 of the ADA gene 226C>T resulting in a substitution of tryptophan for arginine at codon 76 Arg76Trp(R76W);mother is GM06201.

characteristic: description

text: proband

text: ADA

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Black

characteristic: race

text: Female

text: Severe combined immunodeficiency autosomal recessive

text: Adenosine deaminase

text: ADA

text: GM06200 female affected T cell-negative, b cell-negative, nk cell-negative due to adenosine deaminase deficiency sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 58 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected spouse of ND10828

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Population/convenience control

characteristic: tag

text: ND10827 male unaffected Control panel for late onset parkinsons: unaffected individuals sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 20 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;<50% of normal RBC ADA enzyme activity;donor subject has one allele which has a C>T transition at nucleotide 226 in exon 4 of the ADA gene 226C>T resulting in a substitution of tryptophan for arginine at codon 76 Arg76Trp(R76W);affected child is GM06200.

text: AFRICAN-AMERICAN

characteristic: ethnicity

characteristic: family id

text: mother

text: ADA

text: Homo sapiens

text: Black

text: Female

text: Adenosine deaminase

text: ADA

text: GM06201 female unaffected T cell-negative, b cell-negative, nk cell-negative due to adenosine deaminase deficiency sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: Amyotrophic lateral sclerosis 1

text: 55 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND10827

text: proband

text: (GGGGCC)n EXPANSION

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

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: ND10828 female affected Amyotrophic lateral sclerosis 1 sample

characteristic: title


text: Coriell

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 71 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: of German descent

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND10833 male affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Alpha-l-iduronidase

text: 3 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Corneal clouding;develop delay;enlarged head;gingival thickening;coarse features;excess MPS in urine;def IDUA & excess MPS in fibro;def corrected to normal level by Hurler factor;46;XY;t(5;11)pat;Hurler syndrome;homozygous for a TGG>TAG change at nucleotide 1293 in exon 9 of the IDUA gene Trp402Ter (W402X)

characteristic: description

text: IDUA

characteristic: gene

text: 46;XY;t(5;11)(5pter>5q22::11q23.1> 11qter;11pter>11q23.1::5q22>5qter)pat

characteristic: karyotype

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Hurler syndrome

text: IDUA

text: Alpha-l-iduronidase

text: GM06214 male affected Alpha-l-iduronidase sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 69 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: unaffected spouse

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Population/convenience control

characteristic: tag

text: ND10834 female unaffected Neurologically normal caucasian control panel sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Protoporphyria

text: 13 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Mild photosensitivity & markedly elevated protoporphyrin IX in red cells & feces;PHA/PWM stimulated lymphocytes accumulate protoporphyrin IX following incubation with delta-aminolevulinic acid;deficient ferrochelatase activity

text: Homo sapiens

text: Caucasian

text: Female

text: Erythropoietic

text: Protoporphyria

text: GM06221 female affected Protoporphyria sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 58 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND10802

characteristic: family id

text: spouse

text: Homo sapiens

characteristic: organism

text: Female

text: Control

text: Population/convenience control

text: Ninds repository hispanic control plate- coaims tested

text: ND10836 female unaffected Control sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Progressive muscular atrophy

text: 67 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND10843

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Progressive muscular atrophy

text: ND10842 female affected Progressive muscular atrophy sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 2 MO

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Dandy-Walker cyst/ hydrocephalus;Peter's anomaly of the eyes;hypertelorism;ear tags;low set ears;normal Hageman factor level in blood

text: 46;XX;del(6)(:p24->qter).ish del(6)(p24)(6ptel48-;D6Z1+).arr 6p25.3p24.2(94648-11158509)x1;46;XX;del(6)(:p24->qter).ish del(6)(p25)(6ptel48-;D6Z1+);46;XX;del(6)(qter>p24:)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Chromosome deletion

text: GM06222 female unaffected Chromosome deletion sample


text: Coriell

text: live

text: Generic

text: 71 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected spouse of ND10842

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

characteristic: tag

text: Population/convenience control

text: Neurologically normal caucasian control panel

text: ND10843 male unaffected Dna control panel for late onset parkinsons: unaffected individuals sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Kearns-sayre syndrome

text: 10 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Kearns-Sayre syndrome;external ophthalmoplegia with retinal degeneration;ptosis;myocardial fibrosis with congestive heart failure;muscle weakness;diabetes;and absence of sweat;parents have normal ERGs and EKGs;see GM06225 Fibro

text: JEWISH

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Kearns-sayre syndrome

text: KSS

text: GM06224 male affected Kearns-sayre syndrome sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 53 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Other

text: Female

text: Amyotrophic lateral sclerosis 1

text: ND10844 female affected Amyotrophic lateral sclerosis 1 sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Kearns-sayre syndrome

text: 10 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Kearns-Sayre syndrome;external ophthalmoplegia with retinal degeneration;ptosis;myocardial fibrosis with congestive heart failure;muscle weakness;diabetes;and absence of sweat;parents have normal ERGs and EKGs;see GM06224A Lymph

characteristic: description

text: JEWISH

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Kearns-sayre syndrome

text: KSS

text: GM06225 male affected Kearns-sayre syndrome sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 59 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: AFFECTED SPOUSE IS ND10854

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Population/convenience control

text: ND10852 female unaffected Dna control panel for late onset parkinsons: unaffected individuals sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: 61 YR

text: B-Lymphocyte

text: NINDS Repository

text: UNAFFECTED SPOUSE IS ND10852

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Als panel: caucasians from north america lower-limb onset

characteristic: tag

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

text: Amyotrophic lateral sclerosis 1

text: ND10854 male affected ALS1 sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: 6 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Hb alpha/Hb beta ratio equals 3:2 in RBC;has 2 identical copies of the maternally inherited alpha gene cluster and 1 copy of the paternally inherited gene cluster

text: proband

text: 46;XY;der(1)(1pter>1q44:: 16p13.11>16pter)mat;46;XY;der(1)t(1;16)(1pter->1q44::16p12->16pter)mat.arr 1q44(245373155-247190999)x1;16p13.3p12.2(25815-21297471)x3;16p12.1(21853546-22612021)x3

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Translocated chromosome

text: GM06226 male unaffected Copy number variation (cnv) reference panel sample


text: Coriell

text: live

text: Generic

text: 60 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected cousin of ND10893

characteristic: family id

text: cousin

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND10892 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 33 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;Hb alpha/Hb beta ratio equals 1:1 in RBC

characteristic: description

text: mother

text: 46;XX;t(1;16)(1pter>1q44::16p13.11> 16pter;16qter>16p13.11::1q44>1qter)

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Translocated chromosome

text: GM06227 female unaffected Translocated chromosome sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 41 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected cousin is ND10892

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Amyotrophic lateral sclerosis 1

text: ND10893 female affected Amyotrophic lateral sclerosis 1 sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: 29 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected son of ND10894

text: son

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

characteristic: tag

text: ND10894 male 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: 23 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;balanced carrier

text: mother

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Translocated chromosome

text: GM06229 female unaffected Translocated chromosome sample


text: Coriell

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 56 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected son is ND10895

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Als panel caucasian from the us

text: Amyotrophic lateral sclerosis 1

text: ND10895 female affected Amyotrophic lateral sclerosis 1 sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 11 DA

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Respiratory distress;oligohydramnios;heart defect;webbed neck;cleft palate;small jaw;large tongue;and low set ears;8% of cells show random chromosome loss

text: 47;XX;+der(22)t(11;22)(22pter->22q11.2::11q23.3->11qter)mat.ish der(22)(VIJ22072+).arr 11q23.3q25(116195787-134449982)x3;22q11.1q11.21(14880039-18710744)x3;47;XX;+der(22)t(11;22)(22pter>22q11.23::11q23.3>11qter)mat.ish der(22)(VIJ22072+);47;XX;+mar Marker consistent with der(22);t(11;22) (q23;q11)

text: Homo sapiens

characteristic: organism

text: Asian

text: Female

text: Aneuploid chromosome number - trisomy

text: GM06230 female unaffected Aneuploid chromosome number - trisomy sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 61 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND10906

characteristic: description

text: proband

characteristic: gene

text: (GGGGCC)n EXPANSION

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Amyotrophic lateral sclerosis 1

text: ND10905 female affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: Zellweger syndrome

text: 1 MO

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: PEX16-defective complementation group 9;consanguineous parents;similarly affected sib;muscle hypotonia;craniofacial dysmorphia;ventricular septal defect;glossoptosis;cataracts;hepatomegaly with jaundice and elevated SGOT and SGPT;and elevated CSF protein;46;XX

text: Homo sapiens

text: Caucasian

text: Female

text: Zellweger syndrome

text: ZS

text: GM06231 female affected Zellweger syndrome sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: 63 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND10905

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Population/convenience control

characteristic: tag

text: Neurologically normal caucasian control panel

text: ND10906 male unaffected Control panel for late onset parkinsons: unaffected individuals sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: 5 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Developmental delay;small;abnormal EEG;subnormal intelligence;and microcephaly

text: 47;XX;+idic(15)(pter->q13::q13->pter).ish idic(15)(q13)(D15Z1++;D15S11++;SNRPN++;UBE3A++/D15S10++;GABRB3++;PML-);47;XX;+idic(15)(pter>q13::q13>pter)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Isodicentric chromosome

text: GM06246 female unaffected Isodicentric chromosome sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Epilepsy

text: 22 MO

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: African American

text: Male

text: Epilepsy

text: ND10918 male affected Epilepsy sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: Intracranial aneurysm - unruptured

text: 67 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Intracranial aneurysm - unruptured

text: ND10924 female affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

text: Generic

text: Albumin

text: 12 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: American Indian;trace amounts of normal serum albumin;non-edematous;atopic dermatitis;mild bronchial asthma;mild seizure disorder;hyperlipoproteinemia with corneal arcus;consanguineous parents;62% cells have 46;XX;inv(11);the donor subject carries a single AG-to-GG mutation within the 3-prime splice site of intron 6 of the ALB gene which causes a defect in out-splicing of the intron 6 sequence and in the subsequent ligation of the exon 6/exon 7 sequences.

characteristic: description

text: ALB

characteristic: gene

text: 46;XX;der(9)t(9;11)(11qter->11q12::9pter->9q11);der(11)t(9;11)(11pter->11q12::9p11->9qter) 13 /46;XX 12 .ish der(9)t(9;11)(wcp9+;CEP9+;wcp11+;Cyclin D1+);der(11)t(9;11)(wcp9+;CEP9+;wcp11+;D11S2071+;D11Z1+;Cyclin D1-).arr 6q26(162579025-162973728)x3;22q13.33(48210366-48928930)x3;46;XX/46;XX;inv(11)(pter>p15::q13>p15:: q13>qter)

characteristic: mutation

text: A>G

text: Homo sapiens

text: American Indian

text: Female

text: Derivative chromosome

text: Alb dysalbuminemic hyperthyroxinemia included

text: Albumin

text: GM06248 female affected Albumin sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: Amyotrophic lateral sclerosis 1

text: 52 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND10927

text: proband

text: Homo sapiens

text: African American

text: Male

characteristic: sex

characteristic: tag

text: Amyotrophic lateral sclerosis 1

text: ND10926 male affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Inverted chromosome

text: 7 MO

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Delayed develop;hepatomegaly;rotary nystagmus;large ant fontanel;protuberant eyes;questionable retinitis pigmentosa;passage 7 at CCR;46;XX;inv(9) (pter>p11::q21>p11::q21>qter)pat;balanced;increased C26:C22 fatty acid ratio

text: 46;XX;inv(9)(pter>p11::q21>p11::q21> qter)pat

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Zellweger syndrome

text: ZS

text: Inverted chromosome

text: GM06256 female affected Inverted chromosome sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: 45 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: spouse

text: Homo sapiens

characteristic: organism

text: Other

characteristic: race

text: Female

text: Control

text: Population/convenience control

text: Ninds repository hispanic control plate- coaims tested

text: ND10927 female unaffected Control sample


text: Coriell

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 35 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected spouse is ND10929

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Amyotrophic lateral sclerosis 1

text: ND10928 female affected Amyotrophic lateral sclerosis 1 sample


characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 5 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Negative family history;short arms & legs;large head;multiple fractures of ribs & extremities present at birth;telangiectasias on cheeks;soft skull bones;blue sclerae

text: Homo sapiens

text: Caucasian

text: Male

text: LETHAL

text: GM06260 male affected Osteogenesis imperfecta: genetics uncertain sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: 39 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND10928

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Population/convenience control

characteristic: tag

text: ND10929 male unaffected Population/convenience control sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Ehlers-danlos syndrome: type iv

text: 12 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Parents are clinically normal;easily bruised;normal clotting;minimal skin stretchability & joint hypermobility limited to the digits;transparent;thin skin;cigarette-paper scars;tall;mild kyphoscoliosis;mutant type III collagen

text: Homo sapiens

text: Caucasian

text: Female

text: Arterial, ecchymotic type

text: Ehlers-danlos syndrome: type iv

text: GM06261 female affected Ehlers-danlos syndrome: type iv sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: Amyotrophic lateral sclerosis 1

text: 46 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND12679;I113T MUTATION in SOD-1

text: Scottish

characteristic: ethnicity

characteristic: family id

text: proband

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND10941 male affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

text: live

text: Generic

text: Ischemic stroke

text: 45 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Ndpt113 - ischemic stroke, caucasian panel

text: Ischemic stroke

text: ND10942 male affected Ischemic stroke sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 51 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected sister of GM06274;reduced at risk

characteristic: description

text: maternal cousin

text: Homo sapiens

text: Caucasian

text: Female

text: Huntington disease

text: HD

text: GM06273 female unaffected Huntington disease sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: 37 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: unaffected spouse

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

characteristic: tag

text: ND10943 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: Huntington disease

text: 56 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Chorea;depression;loss of temper;positive family history;sister of GM06273

characteristic: family id

text: maternal cousin

text: Homo sapiens

text: Caucasian

text: Female

text: Huntington disease

text: HD

text: GM06274 female affected Huntington disease sample


text: Coriell

text: live

text: Generic

text: Als panel caucasian from the us

text: 42 YR

text: B-Lymphocyte

characteristic: cell type

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: ND10965 male affected Als panel caucasian from the us sample


text: Coriell

text: live

text: Generic

text: 40 YR

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Population/convenience control

text: ND10970 female unaffected Control panel for young onset parkinsons: unaffected individuals sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 29 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: One child has der(22) syndrome

text: 46;XX;t(11;22)(11pter>11q23.3::22q11.23> 22qter;22pter>22q11.23::11q23.3>11qter);46;XX;t(11;22)(11pter>11q23.3::22q11.23>22qter;22pter>22q11.23::11q23.3>11qter)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Translocated chromosome

text: GM06275 female unaffected Translocated chromosome sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 66 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND10975

characteristic: description

text: proband

text: Homo sapiens

text: Other

text: Female

text: Amyotrophic lateral sclerosis 1

text: ND10974 female affected Amyotrophic lateral sclerosis 1 sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: 33 FW

characteristic: age

text: Amniotic fluid-derived cell line

text: NIGMS Human Genetic Cell Repository

text: Abnormal ultrasound at 29-37 weeks gestation;polyhydramnios;brachycephaly;abdominal obstruction;46;XY;del(13) (pter>q21.2:);passage 1 at CCR;child was born with multiple congenital anomalies

text: 46;XY;del(13)(pter->q21.3:).arr 8p23.1(7202008-7836249)x1;13q21.31q34(60669440-114126487)x1;46;XY;del(13)(pter>q21.2:);46;XY;del(13)(pter>q21.31)

text: Homo sapiens

text: Caucasian

text: Male

text: Chromosome deletion

text: GM06312 male unaffected Chromosome deletion sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 53 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND10974

text: GERMANY;SCANDANAVIAN

characteristic: ethnicity

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Population/convenience control

characteristic: tag

text: ND10975 male unaffected Population/convenience control sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Epilepsy

text: 14 MO

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy

text: ND10992 male affected Epilepsy sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: Glucosidase acid alpha

text: 40 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Adult onset;respiratory arrest;muscle weakness onset at age 35;GAA mRNA showed two bands: one normal size band (3.6 kb) of half-normal amount and one band of reduced amount and size (approximately 3 kb);alpha-1;4 glucosidase deficiency: 1-2% of normal activity in lymphoblasts;similarly affected sister;donor subject is a compound heterozygote: allele one carries a T>G transversion at position -13 of the acceptor site of intron 1 of the GAA gene (IVS1-13T>G);the resulting alternatively spliced transcript has an in frame deletion of exon 2 which contains the initiation codon;allele two which contains a rare mutation has a G>C transversion at position +1 in intron 10 (IVS10+1G>C) which results in the splicing out of exon 10 including part of the enzyme catalytic site

text: ITALIAN

text: GAA

characteristic: gene

characteristic: mutation

text: T>G

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Glucosidase acid alpha

text: GAA

text: Glycogen storage disease ii

text: GM06314 female affected Glucosidase acid alpha sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: 72 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND11012 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 37 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Father of a child with an unbalanced translocation;46;XY;14% of cells show random chromosome loss/gain and 2% show random chromosomal aberrations;wife {46;XX;t(11;16)} is GM06316A Lymphoid

characteristic: description

text: parent

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Apparently healthy non-fetal tissue

characteristic: tag

text: GM06315 male unaffected Apparently healthy non-fetal tissue sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 49 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: family id

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: ND11013 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 47 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: sister

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: ND11014 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 35 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Mother of a child with an unbalanced translocation;husband is GM06315A Lymphoid

text: parent

text: 46;XX;t(11;16)(11qter>11p11.2::16p11.1> 16pter;16qter>16p11.1::11p11.2>11pter)

text: Homo sapiens

text: Caucasian

text: Female

text: Translocated chromosome

text: GM06316 female unaffected Translocated chromosome sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 19 YR

text: B-Lymphocyte

text: NINDS Repository

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: ND11015 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 17 FW

characteristic: age

text: Amniotic fluid-derived cell line

text: NIGMS Human Genetic Cell Repository

text: 46;XY;t(9;22)(9pter>9q13::22q13.3> 22qter;22pter>22q13.3::9q13>9qter);balanced

characteristic: description

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Translocated chromosome

text: GM06321 male unaffected Translocated chromosome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Epilepsy

text: 2 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Epilepsy

characteristic: tag

text: ND11021 female affected Epilepsy sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 52 YR

characteristic: cell line

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: ND11029 female unaffected Control sample


text: Coriell

text: live

text: Generic

text: Neuroaxonal dystrophy

text: 3 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Portuguese-American;similarly affected brother;widespread neuronal loss and axonal degeneration with spheroids;cerebellar atrophy;progressive CNS degeneration involving primarily motor systems;normal lysosomal enzymes

text: PORTUGUESE

characteristic: ethnicity

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Infantile

text: Neuroaxonal dystrophy

text: GM06324 male affected Neuroaxonal dystrophy sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 57 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND11031 male affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: Amyotrophic lateral sclerosis 1

text: 59 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND11038

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Unrelated condition upon exam

text: Amyotrophic lateral sclerosis 1

text: ND11036 female affected Amyotrophic lateral sclerosis 1 sample

characteristic: title


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: 30 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Portuguese-American;clinically unaffected;2 affected sons

characteristic: description

text: PORTUGUESE

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Infantile

text: Neuroaxonal dystrophy

text: GM06325 female unaffected Neuroaxonal dystrophy sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Amyotrophic lateral sclerosis 1

text: 46 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected spouse is ND11039

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: Als panel caucasian from the us

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

text: Amyotrophic lateral sclerosis 1

text: ND11037 male affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

text: live

text: Generic

text: 34 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Infertility;azoospermia

text: 46;X;t(Y;17)(Ypter->Yq11.21::17q12-> 17qter;17pter->17q12::Yq11.21->Yqter).arr(1-22)x2;(XY)x1;46;X;t(Y;17)(Ypter>Yq11.21::17q12> 17qter;17pter>17q12::Yq11.21>Yqter)

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Translocated chromosome

text: GM06326 male unaffected Translocated chromosome sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 66 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND11036

characteristic: family id

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Control

text: Population/convenience control

text: ND11038 male unaffected Control sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: Mucopolysaccharidosis type vi

text: 13 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Normal intelligence;deteriorating vision and hearing;flexion contractures;dwarf stature;normal fibroblast arylsulfatase A and deficient arylsulfatase B activity;similarly affected brother

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Mucopolysaccharidosis type vi

text: GM06327 female affected Mucopolysaccharidosis type vi sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 31 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND11037

characteristic: description

text: Columbian

characteristic: ethnicity

text: unaffected spouse

text: Homo sapiens

text: Other

text: Female

text: Control

text: Population/convenience control

text: Ninds repository hispanic control plate- coaims tested

text: ND11039 female unaffected Control sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 41 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: HUNGARIAN

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Population/convenience control

text: ND11080 male unaffected Population/convenience control sample


text: Coriell

text: live

text: Generic

text: 36 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Two affected children;normal fibroblast arylsulfatase A activity;63% of normal arylsulfatase B activity

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Mucopolysaccharidosis type vi

characteristic: tag

text: GM06328 female unaffected Mucopolysaccharidosis type vi sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 37 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND11087

text: spouse

text: Homo sapiens

text: Female

text: Control

text: Population/convenience control

text: ND11083 female unaffected Control sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 37 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Two affected children;normal fibroblast arylsulfatase A activity;73% of normal arylsulfatase B activity

characteristic: family id

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Mucopolysaccharidosis type vi

text: GM06329 male unaffected Mucopolysaccharidosis type vi sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 45 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND11087 male affected Amyotrophic lateral sclerosis 1 sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: Gyrate atrophy of choroid and retina

text: 27 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Elevated serum & urine ornithine levels;progressive blindness;no sign of neurologic involvement;severe constrict of visual fields;flat ERG;neg family history;< 5% of norm ornithine aminotransferase act;unrespon in vitro to Vit B6;donor subject is homozygous for a C>T transition at nucleotide 677 (677C>T) in exon 7 of the OAT gene which converts alanine 226 (GCG) to valine (GTG) Ala226Val (A226V)

characteristic: description

text: ITALIAN

characteristic: ethnicity

text: OAT

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Gyrate atrophy of choroid and retina

text: GACR

text: GM06330 female affected Gyrate atrophy of choroid and retina sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 48 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Control

text: Population/convenience control

text: ND11088 male unaffected Control sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Ttdn1 (c7orf11)

text: 16 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Moroccan;consanguineous parents;growth and mental deficiency (IQ 25-40);brittle hair;absent puberty microcephaly;alopecia;hypotonia;2 affected siblings;normal urinary organic acids and plasma biotinidase activity;donor subject is homozygous for a 2 bp deletion at nucleotide 187 (187_188delGG) in exon 1 of the C7ORF11 (TTDN1) gene resulting in a 57 amino acid truncated protein

text: MOROCCAN

text: proband

text: 2-BP DEL

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

characteristic: tag

text: Ttdn1 gene

text: Trichothiodystrophy, nonphotosensitive 1

text: Ttdn1 (c7orf11)

text: GM06331 male affected Ttdn1 (c7orf11) sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 57 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND11090

characteristic: description

characteristic: family id

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND11089 female unaffected Population/convenience control sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Progressive muscular atrophy

text: 59 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND11089

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Progressive muscular atrophy

text: ND11090 male affected Progressive muscular atrophy sample


text: Coriell

text: live

text: Generic

text: Ttdn1 (c7orf11)

text: 4 YR

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Moroccan;consanguineous parents;growth and mental deficiency (IQ 25-40);brittle hair;microcephaly;areas of alopecia;hypotonia;2 similarly affected siblings;normal urinary organic acids and plasma biotinidase activity;donor subject is homozygous for a 2 bp deletion at nucleotide 187 (187_188delGG) in exon 1 of the C7ORF11 (TTDN1) gene resulting in a 57 amino acid truncated protein

text: MOROCCAN

characteristic: ethnicity

text: sister

characteristic: gene

characteristic: mutation

text: 2-BP DEL

text: Homo sapiens

text: Caucasian

text: Female

text: Ttdn1 gene

text: Ttdn1 (c7orf11)

text: GM06332 female affected Ttdn1 (c7orf11) sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 55 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Amyotrophic lateral sclerosis 1

text: ND11094 female affected Amyotrophic lateral sclerosis 1 sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Ttdn1 (c7orf11)

text: 9 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Moroccan;consanguineous parents;failure to thrive;psychomotor retardation;brittle hair;microcephaly;areas of alopecia;hypotonia;2 similarly affected siblings;normal urinary organic acids and plasma biotinidase activity;donor subject is homozygous for a 2 bp deletion at nucleotide 187 (187_188delGG) in exon 1 of the C7ORF11 (TTDN1) gene resulting in a 57 amino acid truncated protein

text: MOROCCAN

text: sister

text: 2-BP DEL

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: tag

text: Ttdn1 gene

text: Ttdn1 (c7orf11)

text: GM06333 female affected Ttdn1 (c7orf11) sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Subarachnoid hemorrhage

text: 69 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: first cousin once removed

text: Homo sapiens

text: Caucasian

text: Male

text: Subarachnoid hemorrhage

text: ND11100 male affected Subarachnoid hemorrhage sample


text: Coriell

text: live

text: Generic

text: PD

text: 64 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected spouse is ND11105

characteristic: description

text: From France

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Parkinsons panel: caucasian from north america

text: Late onset parkinsons dna panel: affected individuals

text: PD

text: Parkinson disease

text: ND11104 male affected PD sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Gyrate atrophy of choroid and retina

text: 12 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Elevated serum & urine ornithine levels;loss of vis acuity;flat ERG;discrete spinocerebel ataxia;norm musc morphology;sim aff sib;parents 2nd cousins;< 5 % of normal ornithine aminotransferase act;unrespon in vitro to Vitamin B6

text: ITALIAN

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Gyrate atrophy of choroid and retina

text: GACR

text: GM06335 male affected Gyrate atrophy of choroid and retina sample