text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Multiple endocrine neoplasia type ii

text: 35 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Medullary cell carcinoma of the thyroid;father & 2 sibs have documented MEN-2;46;XY in lymphoid culture

characteristic: description

text: brother

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Multiple endocrine neoplasia type ii

text: GM08874 male affected Multiple endocrine neoplasia type ii sample


status: PUBLIC

characteristic: External Id

text: Coriell

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: 74 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

characteristic: tag

text: Amyotrophic lateral sclerosis 1

text: ND14972 male affected Amyotrophic lateral sclerosis 1 sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 55 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected with upper and lower motor neuron involvement;mother is affected;mother of GM08885;donor subject has one allele which has an A>G transition in exon 4 of the SOD1 gene resulting in the substitution of glycine for glutamic acid at codon 100 Glu100Gly (E100G)

text: paternal cousin

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Superoxide dismutase 1

text: Amyotrophic lateral sclerosis 1

text: GM08882 female affected SOD1 sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 73 YR

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: ND14973 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Amyotrophic lateral sclerosis 1

text: 61 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected with upper & lower motor neuron involvement;son & paternal uncle & aunt are also affected

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Amyotrophic lateral sclerosis 1

text: GM08883 female affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 70 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

characteristic: family id

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Control

text: Population/convenience control

text: ND14974 female unaffected Control sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 36 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected with upper and lower motor neuron involvement

text: son

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: tag

text: Amyotrophic lateral sclerosis 1

text: GM08884 male affected Amyotrophic lateral sclerosis 1 sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Parkinson disease

text: 59 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinson disease

text: ND14982 male affected Parkinson disease sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: At risk;clinically unaffected;mother and grandmother are affected

text: paternal cousin

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Amyotrophic lateral sclerosis 1

text: GM08885 male unaffected Amyotrophic lateral sclerosis 1 sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 26 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: African American

text: Female

text: ND14998 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Amyotrophic lateral sclerosis 1

text: 64 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected with upper and lower motor neuron involvement;father is affected;mother of GM08888B

characteristic: description

text: paternal cousin

text: Homo sapiens

text: Caucasian

text: Female

text: Amyotrophic lateral sclerosis 1

text: GM08886 female affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

text: live

text: Generic

text: 58 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: spouse

text: Homo sapiens

text: More than one race

text: Female

text: Control

text: Population/convenience control

text: ND15000 female unaffected Control sample


text: Coriell

text: live

text: Generic

text: 15 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: At risk;clinically unaffected;mother is affected

characteristic: family id

text: great nephew

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Amyotrophic lateral sclerosis 1

text: GM08887 male unaffected Amyotrophic lateral sclerosis 1 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 60 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND15001 male affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

text: live

text: Generic

text: 36 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: At risk;clinically unaffected;mother (GM08886A) is affected

text: paternal cousin

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: tag

text: Amyotrophic lateral sclerosis 1

text: GM08888 female unaffected Amyotrophic lateral sclerosis 1 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 70 YR

text: B-Lymphocyte

text: NINDS Repository

text: first cousin

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinson disease

text: ND15036 male affected Parkinson disease sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: CF

text: 19 FW

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Skin fibroblast culture;previously affected sib;pregnancy terminated following positive results for amniotic fluid intestinal microvillar enzymes & DNA RFLP analysis;donor subject is a compound heterozygote: one allele carries the deltaF508 deletion mutation (PHE508DEL) and a second allele carries a C-to-T substitution at nucleotide 3616 (3616C>T) which converts the arg-1162 codon (CGA) to a stop codon (TGA);resulting in a nonsense mutation in exon 19 in the CFTR gene ARG1162TER (R1162X)

text: CFTR

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: CF

text: Cystic fibrosis

text: Cystic fibrosis transmembrane conductance regulator

text: CFTR

text: GM08889 female affected CF sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Intracranial aneurysm - unruptured

text: 55 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Intracranial aneurysm - unruptured

text: ND15047 female affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 18 FW

text: Amniotic fluid-derived cell line

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: 25% risk for CF;DNA RFLP analysis predicts fetus to be a heterozygote;normal amniotic fluid intestinal microvillar enzymes;passage 7 at CCR

characteristic: description

text: Homo sapiens

text: Caucasian

text: Male

text: CF

text: Cystic fibrosis

text: GM08890 male unaffected Cystic fibrosis sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Progressive muscular atrophy

text: 76 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Progressive muscular atrophy

text: ND15056 male affected Progressive muscular atrophy sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: TD

text: 1 DA

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Expired on 1st day of life;short extremities;normal trunk length;narrow;pear-shaped chest;large head;depressed nasal bridge;protruding eyes;short ribs;flat vertebral bodies;small facial bones;large calvarium;donor subject has a C>G transversion at nucleotide 746 in exon 6 of the FGFR3 gene (746C>G) resulting in a substitution of cysteine for serine at codon 249 Ser249Cys (S249C)

text: Homo sapiens

text: Black

characteristic: race

text: Male

text: TD

characteristic: tag

text: Thanatophoric dysplasia

text: Fibroblast growth factor receptor 3

text: GM08909 male affected TD sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 68 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Control

text: Population/convenience control

text: ND15057 female unaffected Control sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 69 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;2 affected children

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Multiple sclerosis

text: MS

text: GM08919 male unaffected Multiple sclerosis sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 58 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: unaffected spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Control

text: Population/convenience control

text: ND15058 male unaffected Control sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 46 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;2 affected sibs

characteristic: description

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Multiple sclerosis

text: MS

text: GM08921 male unaffected Multiple sclerosis sample


text: Coriell

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 43 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND15079 male affected Amyotrophic lateral sclerosis 1 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Multiple sclerosis

text: 43 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Onset at age 29;slight right facial asymmetry and spastic right hemiparesis with increased deep tendon reflexes;generalized hyper-reflexia;mild pallor of both optic discs

text: sister

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Multiple sclerosis

text: MS

text: GM08922 female affected Multiple sclerosis sample


text: Coriell

text: live

text: Generic

text: 41 YR

text: B-Lymphocyte

text: NINDS Repository

text: unaffected spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Control

characteristic: tag

text: Population/convenience control

text: ND15080 female unaffected Control sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Multiple sclerosis

text: 38 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Similarly affected sister;onset at age 24;numbness;muscle weakness;poor coordination;no vision in left eye;& walks with a limp

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Multiple sclerosis

text: MS

text: GM08923 male affected Multiple sclerosis sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Subarachnoid hemorrhage

text: 61 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Subarachnoid hemorrhage

text: ND15085 female affected Subarachnoid hemorrhage sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 48 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Lebanese;parent of an affected child;spouse of GM08928

text: LEBANESE

characteristic: ethnicity

text: parent

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Apparently healthy non-fetal tissue

text: GM08925 female unaffected Apparently healthy non-fetal tissue sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 51 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: ND15090 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 52 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: German/Greek;parent of an affected child;proband not in Repository

characteristic: description

text: GERMAN/GREEK

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: AT

text: Ataxia-telangiectasia

text: GM08926 male unaffected Ataxia-telangiectasia sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 39 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: brother

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: ND15091 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 51 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Phenotypically normal

text: 46;XY;46;XY/46;XY;t(1;14)(p22;q32)/46;XY;?3;?5

text: Homo sapiens

text: Caucasian

text: Male

text: Apparently healthy non-fetal tissue

text: GM08927 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 38 YR

text: B-Lymphocyte

text: NINDS Repository

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: ND15092 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 57 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Lebanese;parent of an affected child;spouse of GM08925 (normal lymphoblast);proband not in Repository

text: LEBANESE

characteristic: ethnicity

text: parent

text: Homo sapiens

text: Caucasian

text: Male

text: AT

text: Ataxia-telangiectasia

text: GM08928 male unaffected Ataxia-telangiectasia sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 50 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND15093 female unaffected Population/convenience control sample


text: Coriell

text: live

text: Generic

text: 47 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Lithuanian;parent of an affected child;spouse of GM08932

characteristic: description

text: LITHUANIAN

text: parent

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: AT

text: Ataxia-telangiectasia

text: GM08929 female unaffected Ataxia-telangiectasia sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 20 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: ND15094 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 45 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Portugese;parent of an affected child;spouse of GM08931

text: PORTUGUESE

text: parent

text: Homo sapiens

text: Caucasian

text: Male

text: AT

characteristic: tag

text: Ataxia-telangiectasia

text: GM08930 male unaffected Ataxia-telangiectasia sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: 69 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: ND15095 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 42 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Parent of an affected child

text: parent

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: AT

text: Ataxia-telangiectasia

text: GM08931 female unaffected Ataxia-telangiectasia sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 71 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: ND15096 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 49 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Greek;parent of an affected child;proband not in Repository;spouse of GM08929

characteristic: description

text: GREEK

characteristic: ethnicity

text: parent

text: Homo sapiens

text: Caucasian

text: Male

text: AT

text: Ataxia-telangiectasia

text: GM08932 male unaffected Ataxia-telangiectasia sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 67 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: ND15097 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Myoclonic epilepsy of lafora

text: 19 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Well until age 14;then progress decline in IQ;progressive seizures;myoclonus;wheelchair bound at age 18;hospitalized;rarely speaks;cranial nerves intact;no retinal abnormalities;negative family history;normal EMI scan;normal bone marrow;donor subject is homozygous for a C>A transversion at nucleotide 386 of the NHLRC1 (EPM2B) gene (386C>A) resulting in the substitution of histidine for proline at codon 129 Pro129His (P129H)

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Myoclonic epilepsy of lafora

text: Nhl repeat-containing 1 gene

text: GM08935 male affected Myoclonic epilepsy of lafora sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: 18 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: son

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: ND15098 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Multiple sclerosis

text: 39 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;onset at age 26;paresthesias;numbness;blurring of vision;& some difficulty in walking

text: JEWISH

text: sister

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Multiple sclerosis

text: MS

text: GM08939 female affected Multiple sclerosis sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Mucopolysaccharidosis type iiic

text: 17 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Devel delay since infancy;regression in recent yrs;sev retarded;coarse facies;broad hands;hirsute;low hair line;lumbar lordosis;min hepatosplenomegaly;consang parents;def fib Acetyl CoA:alpha-glucosaminide-N-acetyltransferase

characteristic: description

text: ITALIAN

characteristic: ethnicity

text: Homo sapiens

text: Caucasian

text: Male

text: Mucopolysaccharidosis type iiic

text: GM08940 male affected Mucopolysaccharidosis type iiic sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 8 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Short stature;slight hypotonia;normal intelligence;genu valgum;several nevi on trunk;dic(X) is late labelling in all cells

text: 46;X;idic(X)(qter->p11.4::p11.4->qter).arr Xp22.33p11.4(108464-38122857)x1;Xp11.4q28(38123458-154729057)x3;46;X;idic(X)(qter>p11.4::p11.4>qter)

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Dicentric chromosome

text: GM08944 female unaffected Dicentric chromosome sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: 57 YR

text: B-Lymphocyte

text: NINDS Repository

text: English

characteristic: family id

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: ND15099 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 15 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Short stature;slight mental retardation;minor congenital anomalies;both parents have normal karyotypes

text: 46;XX;del(13)(pter->q21.3::q31->qter).arr 13q21.33q31.3(71592999-89890163)x1;46;XX;del(13)(pter>q22.3::q32.1>qter)

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Chromosome deletion

text: GM08946 female unaffected Chromosome deletion sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 49 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Control

text: Population/convenience control

text: ND15114 male unaffected Control sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Retinitis pigmentosa 1

text: 52 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;father & paternal grandfather were affected;spouse is GM09773;son of GM10149;children are GM09770 & 09774;brother of GM10148;10141;10127A;10128;10131;10130;10134;10137A;& 10142;donor subject has a C>T transition at nucleotide 2029 in exon 4 of the RP1 gene 2029C>T resulting in a substitution of a stop codon for arginine at codon 677 Arg677Ter (R677X) .

characteristic: description

text: paternal cousin

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Retinitis pigmentosa 1

text: GM08947 male affected Retinitis pigmentosa 1 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: Amyotrophic lateral sclerosis 1

text: 51 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Amyotrophic lateral sclerosis 1

text: ND15118 female affected Amyotrophic lateral sclerosis 1 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Retinitis pigmentosa 1

text: 38 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Symptomatic;deceased father was affected;mother is GM09771;spouse is GM08955;affected sibs are GM08967;08970;08978;& 08956;donor subject does not carry the Arg677Ter (R677X) mutation in the RP1 gene.

characteristic: family id

text: paternal cousin

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: Retinitis pigmentosa 1

text: GM08948 male affected Retinitis pigmentosa 1 sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 64 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: unaffected spouse

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Control

text: Population/convenience control

text: ND15137 male unaffected Control sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 35 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: At risk;deceased father was affected;mother is GM09771;affected sibs are GM08967;08948A;08970;08978;& 08956;last examined in 1986;donor subject does not carry the Arg677Ter (R677X) mutation in the RP1 gene.

text: paternal cousin

text: Homo sapiens

text: Caucasian

text: Male

text: Retinitis pigmentosa 1

text: GM08949 male unaffected Retinitis pigmentosa 1 sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 63 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Amyotrophic lateral sclerosis 1

text: ND15139 female affected Amyotrophic lateral sclerosis 1 sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 75 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;deceased spouse was affected;6 affected children (only 2 are shown in pedigree);mother of GM09002;09005;& 10529;donor subject does not carry the Arg677Ter (R677X) mutation in the RP1 gene.

characteristic: description

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Retinitis pigmentosa 1

text: GM08950 female unaffected Retinitis pigmentosa 1 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Amyotrophic lateral sclerosis 1

text: 80 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND15147 male affected Amyotrophic lateral sclerosis 1 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 45 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: At risk;deceased father was affected;mother is GM09771;affected sibs are GM08967;08948A;08970;08978;& 08956;last examined in 1989;donor subject does not carry the Arg677Ter (R677X) mutation in the RP1 gene.

characteristic: family id

text: paternal cousin

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: Retinitis pigmentosa 1

text: GM08951 female unaffected Retinitis pigmentosa 1 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 43 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Control

text: Population/convenience control

text: ND15148 female unaffected Control sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 31 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected spouse of GM08961

text: in-law

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Retinitis pigmentosa 1

text: GM08952 female unaffected Retinitis pigmentosa 1 sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 60 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Amyotrophic lateral sclerosis 1

text: ND15149 female affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: Retinitis pigmentosa 1

text: 17 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;affected mother is GM08978;donor subject has a C>T transition at nucleotide 2029 in exon 4 of the RP1 gene 2029C>T resulting in a substitution of a stop codon for arginine at codon 677 Arg677Ter (R677X) .

text: paternal cousin

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Retinitis pigmentosa 1

text: GM08953 male affected Retinitis pigmentosa 1 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 60 YR

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Control

text: Population/convenience control

text: ND15150 male unaffected Control sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 74 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: At risk;deceased mother was affected;affected brothers are GM08995;08960C;and 09012C;last examined in 1989;donor subject does not carry the Arg677Ter (R677X) mutation in the RP1 gene.

characteristic: description

characteristic: family id

text: paternal cousin

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: Retinitis pigmentosa 1

text: GM08954 female unaffected Retinitis pigmentosa 1 sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: Subarachnoid hemorrhage

text: 43 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Subarachnoid hemorrhage

text: ND15164 female affected Subarachnoid hemorrhage sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 37 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;affected spouse is GM08948A

text: in-law

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Retinitis pigmentosa 1

text: GM08955 female unaffected Retinitis pigmentosa 1 sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: Parkinson disease

text: 68 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinson disease

text: ND15167 male affected Parkinson disease sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Retinitis pigmentosa 1

text: 52 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;deceased father was affected;mother is GM09771;spouse is GM08975;affected sibs are GM08967;08948A;08970;& 08978;affected children are GM08988 & 08969;donor subject has a C>T transition at nucleotide 2029 in exon 4 of the RP1 gene 2029C>T resulting in a substitution of a stop codon for arginine at codon 677 Arg677Ter (R677X) .

text: paternal cousin

characteristic: gene

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Retinitis pigmentosa 1

text: GM08956 female affected Retinitis pigmentosa 1 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 79 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Ndpt097 mnd custom plate

text: Amyotrophic lateral sclerosis 1

text: ND15171 male affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: 26 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: At risk;affected father is GM08971;mother is GM08991B;affected brother is GM10139B;donor subject does not carry the Arg677Ter (R677X) mutation in the RP1 gene.

characteristic: description

text: paternal cousin

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: Retinitis pigmentosa 1

text: GM08957 male unaffected Retinitis pigmentosa 1 sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 77 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Control

text: Population/convenience control

text: ND15173 female unaffected Control sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: Retinitis pigmentosa 1

text: 70 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;deceased mother was affected;spouse is GM08981A;affected son is GM08965;sibs are GM08966 & 09778;donor subject has a C>T transition at nucleotide 2029 in exon 4 of the RP1 gene 2029C>T resulting in a substitution of a stop codon for arginine at codon 677 Arg677Ter (R677X) .

text: paternal cousin

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Retinitis pigmentosa 1

text: GM08958 female affected Retinitis pigmentosa 1 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Amyotrophic lateral sclerosis 1

text: 40 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND15177 male affected Amyotrophic lateral sclerosis 1 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 24 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: At risk;affected father is GM09012C;mother is GM09006;last examined in 1989;donor subject does not carry the Arg677Ter (R677X) mutation in the RP1 gene.

text: paternal cousin

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Retinitis pigmentosa 1

text: GM08959 male unaffected Retinitis pigmentosa 1 sample


text: Coriell

text: live

text: Generic

text: 43 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Control

text: Population/convenience control

text: ND15180 female unaffected Control sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: Retinitis pigmentosa 1

text: 80 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;deceased mother & 4 brothers are affected;affected brothers are GM08995 & 09012C;spouse is GM08999;donor subject has a C>T transition at nucleotide 2029 in exon 4 of the RP1 gene 2029C>T resulting in a substitution of a stop codon for arginine at codon 677 Arg677Ter (R677X) .

text: paternal cousin

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Retinitis pigmentosa 1

text: GM08960 male affected Retinitis pigmentosa 1 sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 46 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Control

characteristic: tag

text: Population/convenience control

text: ND15187 male unaffected Control sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 30 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: At risk;deceased father was affected;mother is GM09771;spouse is GM08952;affected sibs are GM08967;08948A;08970;08978;& 08956;last examined in 1989;donor subject does not carry the Arg677Ter (R677X) mutation in the RP1 gene.

characteristic: description

text: paternal cousin

text: Homo sapiens

text: Caucasian

text: Male

text: Retinitis pigmentosa 1

text: GM08961 male unaffected Retinitis pigmentosa 1 sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 47 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Control

text: Population/convenience control

text: ND15192 female unaffected Control sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: 40 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;consanguineous marriage;affected brother is GM09782;mother is GM09755;proband's great-great grandmother is husband's great-greatgreat-grandmother;affected spouse is GM09002;donor subject has a C>T transition at nucleotide 2029 in exon 4 of the RP1 gene 2029C>T resulting in a substitution of a stop codon for arginine at codon 677 Arg677Ter (R677X) .

characteristic: family id

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Retinitis pigmentosa 1 gene

text: Retinitis pigmentosa 1

text: GM08962 male affected RP1 sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: Intracranial aneurysm - unruptured

text: 61 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Intracranial aneurysm - unruptured

text: ND15195 female affected Intracranial aneurysm - unruptured sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 33 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: At risk;deceased father was affected;mother is GM09771;affected sibs are GM08967;08948A;08970;08978;& 08956;last examined in 1989;donor subject does not carry the Arg677Ter (R677X) mutation in the RP1 gene.

text: paternal cousin

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: Retinitis pigmentosa 1

text: GM08963 male unaffected Retinitis pigmentosa 1 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 23 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: ND15218 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 42 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: At risk;donor subject does not carry the Arg677Ter (R677X) mutation in the RP1 gene.

characteristic: description

text: paternal cousin

text: Homo sapiens

text: Caucasian

text: Male

text: Retinitis pigmentosa 1

text: GM08964 male unaffected Retinitis pigmentosa 1 sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 18 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: ND15219 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 39 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;father is GM08981A;affected mother is GM08958A;donor subject has a C>T transition at nucleotide 2029 in exon 4 of the RP1 gene 2029C>T resulting in a substitution of a stop codon for arginine at codon 677 Arg677Ter (R677X) .

text: paternal cousin

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Retinitis pigmentosa 1 gene

text: Retinitis pigmentosa 1

text: GM08965 male affected RP1 sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: Parkinson disease

text: 45 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Parkinson disease

text: ND15229 male affected Parkinson disease sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 63 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: At risk;deceased mother was affected;unaffected brother is GM09778;affected sister is GM08985A;affected nephew is GM08965;donor subject does not carry the Arg677Ter (R677X) mutation in the RP1 gene.

text: paternal cousin

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: tag

text: Retinitis pigmentosa 1

text: GM08966 female unaffected Retinitis pigmentosa 1 sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: Subarachnoid hemorrhage

text: 58 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Subarachnoid hemorrhage

text: ND15246 male affected Subarachnoid hemorrhage sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Retinitis pigmentosa 1

text: 27 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Symptomatic;deceased father was affected;mother is GM09771;affected sibs are GM08948A;08970;08978;& 08956;donor subject does not carry the Arg677Ter (R677X) mutation in the RP1 gene.

characteristic: description

text: paternal cousin

text: Homo sapiens

text: Caucasian

text: Male

text: Retinitis pigmentosa 1

text: GM08967 male affected Retinitis pigmentosa 1 sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 42 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: unaffected spouse

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Control

text: Population/convenience control

text: ND15255 female unaffected Control sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: 34 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;mother is GM08973;neither parent is affected;grandmother was affected;last examined in 1989;donor subject does not carry the Arg677Ter (R677X) mutation in the RP1 gene.

text: paternal cousin

text: Homo sapiens

text: Caucasian

text: Female

text: Retinitis pigmentosa 1

text: GM08968 female unaffected Retinitis pigmentosa 1 sample


text: Coriell

text: live

text: Generic

text: 44 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: unaffected spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Control

text: Population/convenience control

text: ND15256 male unaffected Control sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Retinitis pigmentosa 1

text: 29 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;affected mother is GM08956;unaffected father is GM08975;affected sister is GM08988;donor subject has a C>T transition at nucleotide 2029 in exon 4 of the RP1 gene 2029C>T resulting in a substitution of a stop codon for arginine at codon 677 Arg677Ter (R677X) .

text: paternal cousin

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Retinitis pigmentosa 1

text: GM08969 male affected Retinitis pigmentosa 1 sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: 41 YR

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Control

characteristic: tag

text: Population/convenience control

text: ND15258 female unaffected Control sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Retinitis pigmentosa 1

text: 41 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: At risk at time of submission;diagnosis changed to affected upon new examination in 1989;deceased father was affected;mother is GM09771;affected sibs are GM08967;08948A;08978;& 08956

characteristic: description

text: paternal cousin

text: Homo sapiens

text: Caucasian

text: Male

text: Retinitis pigmentosa 1

text: GM08970 male affected Retinitis pigmentosa 1 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 48 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Primary lateral sclerosis

text: ND15259 male affected Primary lateral scleroris: caucasian, non-hispanic sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: Retinitis pigmentosa 1

text: 58 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;affected mother is GM10515 Fibroblast;unaffected father is GM09010A;spouse is GM08991B;son is GM08957;affected son is GM10139B;donor subject has a C>T transition at nucleotide 2029 in exon 4 of the RP1 gene 2029C>T resulting in a substitution of a stop codon for arginine at codon 677 Arg677Ter (R677X) .

characteristic: family id

text: paternal cousin

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Retinitis pigmentosa 1

text: GM08971 male affected Retinitis pigmentosa 1 sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 69 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Control

text: Population/convenience control

text: ND15271 female unaffected Control sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: 69 YR

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Control

text: Population/convenience control

text: ND15272 male unaffected Control sample


text: Coriell

text: live

text: Generic

text: 79 YR

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: tag

text: ND15277 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 45 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Control

text: Population/convenience control

text: ND15280 female unaffected Control sample


text: Coriell

text: live

text: Generic

text: 27 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: At risk;affected father is GM09012C;mother is GM09006;last examined in 1989;donor subject does not carry the Arg677Ter (R677X) mutation in the RP1 gene.

characteristic: description

text: paternal cousin

text: Homo sapiens

text: Caucasian

text: Female

text: Retinitis pigmentosa 1

text: GM08972 female unaffected Retinitis pigmentosa 1 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 24 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Control

text: Population/convenience control

text: ND15281 male unaffected Control sample


text: Coriell

text: live

text: Generic

text: 57 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;daughter is GM08968;deceased spouse's affected brothers are GM08960C;08995;and 09012C;donor subject does not carry the Arg677Ter (R677X) mutation in the RP1 gene.

text: in-law

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Retinitis pigmentosa 1

text: GM08973 female unaffected Retinitis pigmentosa 1 sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: 29 YR

text: B-Lymphocyte

text: NINDS Repository

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Control

text: Population/convenience control

text: ND15283 female unaffected Control sample


text: Coriell

text: live

text: Generic

text: 32 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: At risk;affected father is GM08995;mother is GM08996;last examined in 1989;donor subject does not carry the Arg677Ter (R677X) mutation in the RP1 gene.

characteristic: family id

text: paternal cousin

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Retinitis pigmentosa 1

text: GM08974 male unaffected Retinitis pigmentosa 1 sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 52 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Control

text: Population/convenience control

text: ND15284 female unaffected Control sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: 56 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;affected spouse is GM08956;affected children are GM08988 & 08969;last examined in 1989;donor subject does not carry the Arg677Ter (R677X) mutation in the RP1 gene.

text: in-law

text: Homo sapiens

text: Caucasian

text: Male

text: Retinitis pigmentosa 1

text: GM08975 male unaffected Retinitis pigmentosa 1 sample


text: Coriell

text: live

text: Generic

text: 36 YR

text: B-Lymphocyte

text: NINDS Repository

text: son

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: tag

text: ND15288 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Retinitis pigmentosa 1

text: 50 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;deceased father was affected;mother is GM09771;affected sibs are GM08967;08948A;08970;& 08956;affected son is GM08953A;donor subject has a C>T transition at nucleotide 2029 in exon 4 of the RP1 gene 2029C>T resulting in a substitution of a stop codon for arginine at codon 677 Arg677Ter (R677X) .

text: paternal cousin

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Retinitis pigmentosa 1

text: GM08978 female affected Retinitis pigmentosa 1 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 59 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: unaffected spouse

text: Homo sapiens

text: African American

text: Male

text: Control

text: Population/convenience control

text: Ninds african american population control plate

text: ND15296 male unaffected Control sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 17 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;affected parents are GM09002 & 08962;affected sibs are GM09757;09763;& 10147;affected brother is GM09761;donor subject is homozygous for a C>T transition at nucleotide 2029 in exon 4 of the RP1 gene 2029C>T resulting in a substitution of a stop codon for arginine at codon 677 Arg677Ter (R677X) .

characteristic: description

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Retinitis pigmentosa 1 gene

text: Retinitis pigmentosa 1

text: GM08979 female affected RP1 sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: Amyotrophic lateral sclerosis 1

text: 57 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Ndpt097 mnd custom plate

text: Amyotrophic lateral sclerosis 1

text: ND15303 male affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 68 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;affected son is GM09785;daughter is GM08992A;affected deceased spouse was brother of GM08960C;08995;& 09012C;last examined in 1989;donor subject does not carry the Arg677Ter (R677X) mutation in the RP1 gene.

text: in-law

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: tag

text: Retinitis pigmentosa 1

text: GM08980 female unaffected Retinitis pigmentosa 1 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 68 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND15305 male affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 73 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically unaffected;affected son is GM08965;affected spouse is GM08958A;last examined in 1989

text: in-law

text: Homo sapiens

text: Caucasian

text: Male

text: Retinitis pigmentosa 1

text: GM08981 male unaffected Retinitis pigmentosa 1 sample


text: Coriell

text: live

text: Generic

text: 68 YR

text: B-Lymphocyte

text: NINDS Repository

text: unaffected spouse

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Control

text: Population/convenience control

text: ND15306 female unaffected Control sample


text: Coriell

text: live

text: Generic

text: Retinitis pigmentosa 1

text: 80 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;deceased;deceased father was affected;2 affected halfsisters;affected daughter is GM09000A;unaffected daughter is GM08987;spouse is GM10140A;donor subject has a C>T transition at nucleotide 2029 in exon 4 of the RP1 gene 2029C>T resulting in a substitution of a stop codon for arginine at codon 677 Arg677Ter (R677X) .

characteristic: description

text: paternal cousin

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Retinitis pigmentosa 1

text: GM08982 male affected Retinitis pigmentosa 1 sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: 67 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: unaffected spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Control

text: Population/convenience control

text: ND15307 female unaffected Control sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Retinitis pigmentosa 1

text: 28 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Symptomatic;affected father is GM09007A;mother is GM09008B;last examined in 1989;donor subject does not carry the Arg677Ter (R677X) mutation in the RP1 gene.

text: paternal cousin

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Retinitis pigmentosa 1

text: GM08983 male affected Retinitis pigmentosa 1 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 68 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: tag

text: Amyotrophic lateral sclerosis 1

text: ND15308 male affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 57 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically unaffected;affected spouse is GM09003;affected daughter is GM08986;donor subject does not carry the Arg677Ter (R677X) mutation in the RP1 gene.

text: in-law

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Retinitis pigmentosa 1

text: GM08984 male unaffected Retinitis pigmentosa 1 sample


text: Coriell

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 48 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Amyotrophic lateral sclerosis 1

text: ND15313 female affected Amyotrophic lateral sclerosis 1 sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 71 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;donor subject does not carry the Arg677Ter (R677X) mutation in the RP1 gene.

characteristic: description

text: in-law

text: Homo sapiens

text: Caucasian

text: Female

text: Retinitis pigmentosa 1

text: GM08985 female unaffected Retinitis pigmentosa 1 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 69 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: GERMAN;IRISH;ENGLISH

characteristic: ethnicity

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND15327 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: 24 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;affected mother is GM09003;father is GM08984A;donor subject has a C>T transition at nucleotide 2029 in exon 4 of the RP1 gene 2029C>T resulting in a substitution of a stop codon for arginine at codon 677 Arg677Ter (R677X) .

characteristic: family id

text: paternal cousin

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Retinitis pigmentosa 1 gene

text: Retinitis pigmentosa 1

text: GM08986 female affected RP1 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Parkinson disease

text: 63 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Ash Jewish

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Parkinson disease

text: ND15329 male affected Parkinson disease sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 44 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: At risk;deceased affected father is GM08982;mother is GM10140A;affected sister is GM09000A;donor subject does not carry the Arg677Ter (R677X) mutation in the RP1 gene.

text: paternal cousin

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

characteristic: tag

text: Retinitis pigmentosa 1

text: GM08987 female unaffected Retinitis pigmentosa 1 sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: 68 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: unaffected spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Control

text: Population/convenience control

text: ND15390 male unaffected Control sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: Retinitis pigmentosa 1

text: 31 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;affected mother is GM08956;unaffected father is GM08975;affected brother is GM08969;donor subject has a C>T transition at nucleotide 2029 in exon 4 of the RP1 gene 2029C>T resulting in a substitution of a stop codon for arginine at codon 677 Arg677Ter (R677X) .

characteristic: description

characteristic: family id

text: paternal cousin

text: Homo sapiens

text: Caucasian

text: Female

text: Retinitis pigmentosa 1

text: GM08988 female affected Retinitis pigmentosa 1 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Amyotrophic lateral sclerosis 1

text: 66 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Amyotrophic lateral sclerosis 1

text: ND15391 female affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

text: live

text: Generic

text: 33 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: At risk;affected father is GM09012C;mother is GM09006;donor subject does not carry the Arg677Ter (R677X) mutation in the RP1 gene.

text: paternal cousin

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Retinitis pigmentosa 1

text: GM08989 male unaffected Retinitis pigmentosa 1 sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 67 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Frontotemporal dementia

text: Amyotrophic lateral sclerosis 1

text: ND15441 female affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

text: live

text: Generic

text: Retinitis pigmentosa 1

text: 59 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;mother was affected;sons are GM09762 & 09765;affected sibs are GM09003 & 09007A;donor subject has a C>T transition at nucleotide 2029 in exon 4 of the RP1 gene 2029C>T resulting in a substitution of a stop codon for arginine at codon 677 Arg677Ter (R677X) .

text: paternal cousin

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Retinitis pigmentosa 1

text: GM08990 female affected Retinitis pigmentosa 1 sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: 72 YR

text: B-Lymphocyte

text: NINDS Repository

text: GERMAN

characteristic: ethnicity

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Control

characteristic: tag

text: Population/convenience control

text: ND15442 male unaffected Control sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: 57 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;affected spouse is GM08971;son is GM08957;affected son is GM10139B;donor subject does not carry the Arg677Ter (R677X) mutation in the RP1 gene.

characteristic: description

text: in-law

text: Homo sapiens

text: Caucasian

text: Female

text: Retinitis pigmentosa 1

text: GM08991 female unaffected Retinitis pigmentosa 1 sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Intracranial aneurysm - unruptured

text: 54 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: brother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Intracranial aneurysm - unruptured

text: ND15458 male affected Intracranial aneurysm - unruptured sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 50 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: At risk;deceased father was affected;mother is GM08980A;affected brother is GM09785;last examined in 1989;donor subject does not carry the Arg677Ter (R677X) mutation in the RP1 gene.

text: paternal cousin

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Retinitis pigmentosa 1

text: GM08992 female unaffected Retinitis pigmentosa 1 sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: Amyotrophic lateral sclerosis 1

text: 52 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Amyotrophic lateral sclerosis 1

text: ND15461 female affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

text: live

text: Generic

text: 51 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;affected father is GM09009A;mother is GM08985;spouse is GM09011A;affected sister is GM09780;children are GM09768 & 10521;donor subject has a C>T transition at nucleotide 2029 in exon 4 of the RP1 gene 2029C>T resulting in a substitution of a stop codon for arginine at codon 677 Arg677Ter (R677X) .

text: paternal cousin

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Retinitis pigmentosa 1 gene

characteristic: tag

text: Retinitis pigmentosa 1

text: GM08993 male affected RP1 sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: 28 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: unaffected spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Control

text: Population/convenience control

text: ND15474 male unaffected Control sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Retinitis pigmentosa 1

text: 67 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;donor subject has a C>T transition at nucleotide 2029 in exon 4 of the RP1 gene 2029C>T resulting in a substitution of a stop codon for arginine at codon 677 Arg677Ter (R677X) .

characteristic: description

text: paternal cousin

text: Homo sapiens

text: Caucasian

text: Male

text: Retinitis pigmentosa 1

text: GM08995 male affected Retinitis pigmentosa 1 sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 28 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: unaffected spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Control

text: Population/convenience control

text: ND15479 female unaffected Control sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 59 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically unaffected;affected spouse is GM08995;last examined in 1989;donor subject does not carry the Arg677Ter (R677X) mutation in the RP1 gene.

text: in-law

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Retinitis pigmentosa 1

text: GM08996 female unaffected Retinitis pigmentosa 1 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 22 YR

text: B-Lymphocyte

text: NINDS Repository

text: control family

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Control

text: Population/convenience control

text: ND15481 female unaffected Control sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Retinitis pigmentosa 1

text: 33 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;father is affected;mother is GM09772A;brother is GM09769;half-sib (same father) is GM09754;donor subject has a C>T transition at nucleotide 2029 in exon 4 of the RP1 gene 2029C>T resulting in a substitution of a stop codon for arginine at codon 677 Arg677Ter (R677X) .

text: paternal cousin

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: Retinitis pigmentosa 1

text: GM08997 female affected Retinitis pigmentosa 1 sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Parkinson disease

text: 65 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Ash Jewish

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinson disease

text: ND15529 male affected Parkinson disease sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 72 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;affected spouse is GM08960C;last examined in 1989

characteristic: description

characteristic: family id

text: in-law

text: Homo sapiens

text: Caucasian

text: Female

text: Retinitis pigmentosa 1

text: GM08999 female unaffected Retinitis pigmentosa 1 sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Parkinson disease

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: Parkinson disease

text: ND15562 male affected Parkinson disease sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: Retinitis pigmentosa 1

text: 52 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;deceased affected father is GM08982;mother is GM10140A;sister is GM08987;donor subject has a C>T transition at nucleotide 2029 in exon 4 of the RP1 gene 2029C>T resulting in a substitution of a stop codon for arginine at codon 677 Arg677Ter (R677X) .

text: paternal cousin

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Retinitis pigmentosa 1

text: GM09000 female affected Retinitis pigmentosa 1 sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Parkinson disease

text: 54 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: PD

characteristic: tag

text: Parkinson disease

text: ND15589 male affected Parkinson disease sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Retinitis pigmentosa 1

text: 58 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;father & 3 uncles are affected;brother is GM09779;donor subject has a C>T transition at nucleotide 2029 in exon 4 of the RP1 gene 2029C>T resulting in a substitution of a stop codon for arginine at codon 677 Arg677Ter (R677X) .

characteristic: description

characteristic: family id

text: paternal cousin

text: Homo sapiens

text: Caucasian

text: Male

text: Retinitis pigmentosa 1

text: GM09001 male affected Retinitis pigmentosa 1 sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 50 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Control

text: Population/convenience control

text: ND15590 female unaffected Control sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 36 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;consanguineous marriage;4 affected children;father;paternal grandfather;great-grandfather;& great-great-grandmother were also affected;46;XX in lymphoblast culture;daughter of GM08950;donor subject has a C>T transition at nucleotide 2029 in exon 4 of the RP1 gene 2029C>T resulting in a substitution of a stop codon for arginine at codon 677 Arg677Ter (R677X) .

text: proband

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Retinitis pigmentosa 1 gene

text: Retinitis pigmentosa 1

text: GM09002 female affected RP1 sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Subarachnoid hemorrhage

text: 84 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Subarachnoid hemorrhage

text: ND15596 female affected Subarachnoid hemorrhage sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Retinitis pigmentosa 1

text: 61 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;mother was affected;spouse is GM08984A;affected daughter is GM08986;affected sibs are GM08990A & 09007A;donor subject has a C>T transition at nucleotide 2029 in exon 4 of the RP1 gene 2029C>T resulting in a substitution of a stop codon for arginine at codon 677 Arg677Ter (R677X) .

text: paternal cousin

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: Retinitis pigmentosa 1

text: GM09003 female affected Retinitis pigmentosa 1 sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 82 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND15597 female affected Intracranial aneurysm - unruptured sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 24 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: At risk;affected father is GM08995;mother is GM08996;last examined in 1989;donor subject does not carry the Arg677Ter (R677X) mutation in the RP1 gene.

characteristic: description

text: paternal cousin

text: Homo sapiens

text: Caucasian

text: Male

text: Retinitis pigmentosa 1

text: GM09004 male unaffected Retinitis pigmentosa 1 sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Parkinson disease

text: 56 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Parkinson disease

text: ND15607 male affected Parkinson disease sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Retinitis pigmentosa 1

text: 41 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;deceased father;5 sibs;& 2 half-sibs are also affected (only 1 affected sib is shown in pedigree);affected sister is GM09002;brother is GM10529;son of GM08950;donor subject has a C>T transition at nucleotide 2029 in exon 4 of the RP1 gene 2029C>T resulting in a substitution of a stop codon for arginine at codon 677 Arg677Ter (R677X) .

text: brother

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Retinitis pigmentosa 1

text: GM09005 male affected Retinitis pigmentosa 1 sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 56 YR

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

characteristic: tag

text: ND15608 female unaffected Population/convenience control sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 52 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;spouse of GM09012C;last examined in 1989;donor subject does not carry the Arg677Ter (R677X) mutation in the RP1 gene.

text: in-law

text: Homo sapiens

text: Caucasian

text: Female

text: Retinitis pigmentosa 1

text: GM09006 female unaffected Retinitis pigmentosa 1 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Parkinson disease

text: 53 YR

text: B-Lymphocyte

text: NINDS Repository

text: Ash Jewish

characteristic: ethnicity

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Parkinson disease

text: ND15612 female affected Parkinson disease sample


text: Coriell

text: live

text: Generic

text: Retinitis pigmentosa 1

text: 64 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;mother was affected;spouse is GM09008B;son is GM08983;affected sibs are GM09003 & 08990A;donor subject has a C>T transition at nucleotide 2029 in exon 4 of the RP1 gene 2029C>T resulting in a substitution of a stop codon for arginine at codon 677 Arg677Ter (R677X) .

characteristic: description

text: paternal cousin

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Retinitis pigmentosa 1

text: GM09007 male affected Retinitis pigmentosa 1 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 85 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: ND15619 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 62 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;affected spouse is GM09007A;son is GM08983;donor subject does not carry the Arg677Ter (R677X) mutation in the RP1 gene.

text: in-law

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Retinitis pigmentosa 1

text: GM09008 female unaffected Retinitis pigmentosa 1 sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: 53 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND15620 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: Retinitis pigmentosa 1

text: 77 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;deceased mother was affected;spouse is GM08985;affected children are GM09780 & 08993A;donor subject has a C>T transition at nucleotide 2029 in exon 4 of the RP1 gene 2029C>T resulting in a substitution of a stop codon for arginine at codon 677 Arg677Ter (R677X) .

characteristic: description

characteristic: family id

text: paternal cousin

text: Homo sapiens

text: Caucasian

text: Male

text: Retinitis pigmentosa 1

text: GM09009 male affected Retinitis pigmentosa 1 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 50 YR

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: ND15621 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 94 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;deceased;affected son is GM08971;affected spouse is GM10515 Fibroblast;donor subject does not carry the Arg677Ter (R677X) mutation in the RP1 gene.

text: in-law

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Retinitis pigmentosa 1

text: GM09010 male unaffected Retinitis pigmentosa 1 sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 69 YR

text: B-Lymphocyte

text: NINDS Repository

text: Ash Jewish

characteristic: ethnicity

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: ND15624 male unaffected Population/convenience control sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 51 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;affected spouse is GM08993A;children are GM09768 & 10521;last examined in 1989;donor subject does not carry the Arg677Ter (R677X) mutation in the RP1 gene.

text: in-law

text: Homo sapiens

text: Caucasian

text: Female

text: Retinitis pigmentosa 1

text: GM09011 female unaffected Retinitis pigmentosa 1 sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: 19 YR

text: B-Lymphocyte

text: NINDS Repository

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: ND15626 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 60 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;donor subject has a C>T transition at nucleotide 2029 in exon 4 of the RP1 gene 2029C>T resulting in a substitution of a stop codon for arginine at codon 677 Arg677Ter (R677X) .

text: paternal cousin

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Retinitis pigmentosa 1 gene

characteristic: tag

text: Retinitis pigmentosa 1

text: GM09012 male affected RP1 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 48 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND15627 female unaffected Population/convenience control sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Multiple sclerosis

text: 35 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Onset at age 25;similarly affected sib;facial numbness;ataxic gait;moderate nystagmus;intermittent weakness;and episodic bladder dysfunction;on steroids

characteristic: description

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Multiple sclerosis

text: MS

text: GM09013 male affected Multiple sclerosis sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 37 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND15637 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 76 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;2 affected children

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Multiple sclerosis

text: MS

text: GM09014 male unaffected Multiple sclerosis sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Epilepsy

text: 9 MO

text: B-Lymphocyte

text: NINDS Repository

text: IRISH

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy

characteristic: tag

text: ND15638 male affected Epilepsy sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 74 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Multiple sclerosis

text: MS

text: GM09015 female unaffected Multiple sclerosis sample


text: Coriell

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 34 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Intracranial aneurysm - unruptured

text: ND15656 female affected Intracranial aneurysm - unruptured sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: Multiple sclerosis

text: 38 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Onset at age 19;similarly affected sib

characteristic: description

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Multiple sclerosis

text: MS

text: GM09016 male affected Multiple sclerosis sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Parkinson disease

text: 84 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Ash Jewish

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinson disease

text: ND15658 male affected Parkinson disease sample

characteristic: title


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 42 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;2 affected sibs

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Multiple sclerosis

text: MS

text: GM09017 male unaffected Multiple sclerosis sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Parkinson disease

text: 59 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Parkinson disease

text: ND15666 male affected Parkinson disease sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 45 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically unaffected;2 affected sibs

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Multiple sclerosis

characteristic: tag

text: MS

text: GM09018 male unaffected Multiple sclerosis sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 59 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Parkinson disease

text: ND15679 male affected Parkinson disease sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: 47 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;2 affected sibs;examination showed pallor of left optic disc only

characteristic: description

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Multiple sclerosis

text: MS

text: GM09023 male unaffected Multiple sclerosis sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Parkinson disease

text: 65 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Ash Jewish

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinson disease

text: ND15704 male affected Parkinson disease sample

characteristic: title


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Chromosome deletion

text: 14 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Hypotonia;obesity;hyperphagia;hypogonadism;mental retardation;small hands and feet;hypopigmentation;46;XY;del(15) (pter>q11.2::q13.1>qter);PWS critical region deletion confirmed by FISH analysis with cosmid probes

text: 46;XY;del(15)(pter->q11.2::q13->qter).arr 15q11.2q13.1(21192942-26500067)x1;46;XY;del(15)(pter>q11.2::q13.1>qter)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Chromosome deletion

text: PWS

text: Prader-willi syndrome

text: GM09024 male affected Chromosome deletion sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: Subarachnoid hemorrhage

text: 53 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Subarachnoid hemorrhage

text: ND15721 male affected Subarachnoid hemorrhage sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 5 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Mental retardation & moderate spasticity

text: 46;XY;r(22)(::p11.2->q13.3::).arr 8p23.1(7291134-7869452)x1;16q24.2(86226907-86610612)x3;22q13.31q13.33(46658740-49581309)x1;46;XY;r(22)(::p11.2>q13.3::)

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Ring chromosome

characteristic: tag

text: GM09025 male unaffected Ring chromosome sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 14 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: Control

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND15723 female unaffected Population/convenience control sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 15 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clone of GM04599A;kyphoscoliosis;abnormal dentition;contraction of fingers;abnormal dermatoglyphics and skin pigmentation;delayed mental development;both parents have normal karyotypes

characteristic: description

text: proband

text: 47;XY;+der(15)(qter>q26::q26>qter).rev ish enh(15)(q26>qter).ish der(15)(DXZ1-DYZ3-;D13Z1-;D14Z1-;wcp15+;D15Z-;D15S396+;D17Z1-;D18S552-;20pTEL18-;D20Z1-;20qTEL14-;D21Z1-;D22Z1-);47;XY;+mar;47;XY;+mar.rev ish enh(15)(q26>qter).ish mar(DXZ1-;DYZ3-;D13Z1-;D14Z1-;D15Z-;D15S396+;D17Z1-;D18S552-;20pTEL18-;D20Z1-;20qTEL14-;D21Z1-;D22Z1-)

text: Homo sapiens

text: Black

text: Male

text: GM09026 male unaffected Aneuploid chromosome number - non-trisomic sample

characteristic: title


text: Coriell

text: live

text: Generic

text: Progressive supranuclear palsy

text: 72 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Progressive supranuclear palsy

text: ND15729 male affected Progressive supranuclear palsy sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Hypophosphatasia

text: 3 DA

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Fibroblasts show deficient LBK alkaline phosphatase activity;lethal;infantile form;passage 3 at CCR

text: Homo sapiens

text: Caucasian

text: Female

text: Phosphoethanolaminuria - 241500 or 241510

text: Hypophosphatasia

text: GM09032 female affected Hypophosphatasia sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 72 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND15730 female unaffected Population/convenience control sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Hypophosphatasia

text: 1 DA

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Fibroblasts show deficient LBK alkaline phosphatase activity;lethal;infantile form;passage 2 at CCR

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Hypophosphatasia

text: GM09033 male affected Hypophosphatasia sample


text: Coriell

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 43 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Intracranial aneurysm - unruptured

text: ND15731 female affected Intracranial aneurysm - unruptured sample