text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 38 YR

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: ND27530 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


status: PUBLIC

characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

tag: attribute

text: 8 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: XP132BE;clinically affected;sun sensitivity;total body freckling;multiple probable cancers on nose;severe photophobia;corneal scarring;nearly blind;see GM16693 Fibroblast;donor subject is a compound heterozygote: the maternal allele has a 2 bp deletion at nucleotide 1744 in exon 8 of the XPC gene (1744_1745delTG) resulting in a frameshift at codon 547 and a stop 25 codons downstream;the mutation on the paternal allele is not identified

characteristic: description

text: HONDURAN

characteristic: ethnicity

characteristic: family id

text: proband

text: XPC

characteristic: gene

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Hispanic/Latino

text: Male

characteristic: sex

characteristic: tag

text: XPC

text: GM16692 male affected Xeroderma pigmentosum, complementation group c sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 38 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: ND27531 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 8 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: XP132BE;clinically affected;sun sensitivity;total body freckling;multiple probable cancers on nose;severe photophobia;corneal scarring;nearly blind;see GM16692 Lymphoid;donor subject is a compound heterozygote: the maternal allele has a 2 bp deletion at nucleotide 1744 in exon 8 of the XPC gene (1744_1745delTG) resulting in a frameshift at codon 547 and a stop 25 codons downstream;the mutation on the paternal allele is not identified

text: HONDURAN

text: proband

text: XPC

text: Homo sapiens

text: Hispanic/Latino

text: Male

text: XPC

text: GM16693 male affected Xeroderma pigmentosum, complementation group c sample


text: Coriell

text: live

text: Generic

text: 15 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: ND27532 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;balanced de novo translocation

characteristic: description

text: 46;XY;t(7;17)(7qter>7p15;::17q24>17qter;17pter>17q24::7p15>7pter).ish t(7;17)(wcp7+;D17S928+;D7S589-;wcp7+;D17S928-;D7S589+)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Translocated chromosome

text: GM16717 male unaffected Translocated chromosome sample


text: Coriell

text: live

text: Generic

text: 31 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: sex

text: ND27537 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: Chromosome deletion

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Azoospermia;deletion of the AZFc region including the entire DAZ family by PCR and Southern blot hybridization

text: VIETNAMESE

characteristic: ethnicity

text: Homo sapiens

text: Vietnamese

text: Male

text: Chromosome deletion

characteristic: tag

text: DAZ

text: Deleted in azoospermia

text: GM16718 male affected Chromosome deletion sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: Tourette syndrome

text: 8 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Tourette syndrome

text: ND27538 male affected Tourette syndrome sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 27 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Line KLC;was established in 1992 from a patient in leukemic phase of B-cell lymphoma. His WBC count was 183;000/mm3 and 67% blast cells. The blast cells were positive for HLA-DR;CD19;CD20;and CD21;but were negative for myeloid markers;indicating that the cells are pre-B-lymphoid cells. The sub-cell line;KLC-HSV2 (GM16727);was derived from KLC cell line infected with Herpes Simplex Virus Type II (HSV-2) in January of 1994.

text: proband

text: 42~49;XY;t(8;9)(q13;p24);del(13)(q12q14);add(22)(q13.2);+markers cp10

text: Homo sapiens

text: African American

text: Male

text: LALL

text: GM16726 male affected Lymphoblastic leukemia, acute, with lymphomatous features sample


text: Coriell

text: live

text: Generic

text: 27 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Line KLC-HSV2;this sub-cell line was derived by infecting line KLC (GM16726) with herpes simplex virus type II (HSV2). This is the first human lymphoid cell line to show persistent in vitro HSV-2 infection extending over several years Kao;Y.S.;Sundin;D.R.;and Gebhardt;B.M. Persistent infection of a lymphoma cell line by Herpes Simplex Virus;Am J Hematol 62:93-98 (1999) . An assay method for the presence of HSV-2 will be provided with this cell line upon request. The NIGMS Repository does not guarentee HSV-2 expression in this cell line.

characteristic: description

characteristic: family id

text: proband

text: 46~49;XY;t(8;9)(q13;p24);del(13)(q12q14);add(22)(q13.2);+markers cp10

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: African American

text: Male

text: LALL

text: GM16727 male affected Lymphoblastic leukemia, acute, with lymphomatous features sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: Epilepsy

text: 11 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Asian

text: Female

characteristic: sex

text: Epilepsy

text: ND27543 female affected Epilepsy sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 27 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;feeding difficulty;multiple timy cataracts;mild hepatomegaly;normal limbs without rhizomelia;mild diffuse hypotonia;stippling of epiphyses;particularly striking in knees;markedly reduced plasmalogens;deficiency of enzyme DHAP-AT;moderate to severe delays in motor and cognitive function;see GM16776 Lymphoid

text: FRENCH CANADIAN

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: GM16728 female affected Rhizomelic chondrodysplasia punctata type 2 sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Epilepsy

text: 56 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Epilepsy

text: ND27556 female affected Epilepsy sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 45 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Mother of an affected child;sun damaged skin;but no skin cancers;hypothyroidism;hypertension

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Deafness with dna repair deficiency

text: GM16732 female unaffected Deafness with dna repair deficiency sample


text: Coriell

text: live

text: Generic

text: Epilepsy

text: 46 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: sibling

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

text: ND27557 female affected Epilepsy sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 44 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Father of an affected child;sun damaged skin;but no cancers

characteristic: description

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Deafness with dna repair deficiency

text: GM16734 male unaffected Deafness with dna repair deficiency sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Epilepsy

text: 19 YR

text: B-Lymphocyte

text: NINDS Repository

text: Caucasian | American Indian/Alaska Native

text: sibling

text: Homo sapiens

text: More than one race

text: Male

characteristic: sex

text: Epilepsy

text: ND27558 male affected Epilepsy sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Deafness with dna repair deficiency

text: 12 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: DD129BE;clinically affected;multiple spitz nevi originally read as melanoma;reduced DNA repair;severe sensorineural deafness;tans easily;no freckling;see GM16792 Fibroblast

text: proband

text: 46;XY;t(9;22)(9pter>9p22::22q11.2>20qter).ish (ARSA+;TUPLE 1-;TUPLE 1+;ARSA-)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Deafness with dna repair deficiency

characteristic: tag

text: GM16736 male affected Deafness with dna repair deficiency sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 52 YR

text: B-Lymphocyte

text: NINDS Repository

text: ash j

characteristic: ethnicity

text: mother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: ND27566 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 41 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;recurrent nephrolithiasis beginning in childhood;urine cystine levels markedly elevated (4593 micromol/24 hours);patient underwent uninephrectomy at age 15 because of severe nephrolithiasis;no family history;donor subject is a compound heterozygote: one allele carries a C-to-T transition at nucleotide 1352 which converts the thr-389 codon in exon 11 of the SLC7A9 gene to a methionine THR389MET (T389M);the other allele contains a splice site mutation (789+2 T-C).

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Solute carrier family 7 member 9

text: CSNU

text: Cystinuria

text: GM16753 female affected SLC7A9 sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: Tourette syndrome

text: 15 YR

text: B-Lymphocyte

text: NINDS Repository

text: ash j

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

characteristic: sex

text: Tourette syndrome

text: ND27567 male affected Tourette syndrome sample


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 43 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;mother of three affected children (GM16770;GM16771;and GM16772);one allele carries the 2507+6T>C mutation in the IKBKAP gene;this donor splice site mutation (IVS20+6T>C) leads to deletion of exon 20 from the mRNA.

characteristic: description

text: ASHKENAZI

text: mother

text: IKBKAP

text: T>C

text: Homo sapiens

text: Caucasian

text: Female

text: Inhibitor of kappa light polypeptide gene enhancer in b cells

characteristic: tag

text: Kinase-complex associated protein

text: IKBKAP

text: GM16768 female unaffected Neuropathy, hereditary sensory and autonomic type iii sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 70 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: ND27583 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 40 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically unaffected;father of three affected children (GM16770;GM16771;and GM16772);one allele carries the 2507+6T>C mutation in the IKBKAP gene;this donor splice site mutation (IVS20+6T>C) leads to deletion of exon 20 from the mRNA.

text: ASHKENAZI

characteristic: ethnicity

text: father

text: IKBKAP

characteristic: gene

text: T>C

text: Homo sapiens

text: Caucasian

text: Male

text: Kinase-complex associated protein

text: IKBKAP

text: GM16769 male unaffected Neuropathy, hereditary sensory and autonomic type iii sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: 70 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND27584 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: 8 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;born at 32 weeks gestation;birth weight 5 lb 9 oz;poor suck in neonatal period;hypotonia;feeding difficulties;poor oral coordination causing nasopharyngeal reflux;dysphagia and dysarthria;profuse drooling;tongue thrusting;nocturnal enuresis;alacrima;blotchy skin;decreased lingual fungiform papillae;lack of axon flare;decreased deep tendon reflexes;post prandial vomiting;periodic bouts of diarrhea caused by large bowel dysmotility;gastroesophageal reflux;breath holding;developmental delay;labile blood pressure;multiple pneumonias and recurrent respiratory infections;mild left thoracic scoliosis;weight <5th percentile;decreased corneal reflexes;perception of warm almost absent;moderate decrease of vibration sense in upper extremities;atypical absence seizures;donor subject is homozygous for the 2507+6T>C mutation in the IKBKAP gene;this donor splice site mutation (IVS20+6T>C) leads to deletion of exon 20 from the mRNA;DNA testing for Fragile X syndrome was negative;affected monozygotic twin sisters are GM16771;GM16772;mother is GM16768;father is GM16769.

text: ASHKENAZI

text: brother

text: IKBKAP

characteristic: mutation

text: T>C

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

characteristic: sex

text: Kinase-complex associated protein

text: IKBKAP

text: GM16770 male affected Neuropathy, hereditary sensory and autonomic type iii sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 34 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND27585 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: Monozygotic twin pairs

text: 7 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;monozygotic twin born at 37 weeks gestation;birth weight 4 lb 14 oz;hypothermia and poor suck in neonatal period;feeding difficulties;poor oral coordination causing nasopharyngeal reflux;dysphagia and dysarthria;profuse drooling;post prandial vomiting;hypotonia;alacrima;blotchy skin;decreased sweating;decreased lingual fungiform papillae;lack of axon flare;decreased deep tendon reflexes;breath holding;developmental delay;labile blood pressure;multiple pneumonias and recurrent respiratory infections;no scoliosis;weight <5th percentile;wasting of temporal muscles;corneal reflexes are present;temperature sensation almost normal;vibration sense markedly impaired in all four extremities;excessive sympathetic tone;atypical absence seizures;a few punctate left frontoparietal periventricular neuronal heterotopias seen on MRI;donor subject is homozygous for the 2507+6T>C mutation in the IKBKAP gene;this donor splice site mutation (IVS20+6T>C) leads to deletion of exon 20 from the mRNA;DNA testing for Fragile X syndrome was negative;affected monozygotic twin sister is GM16772 and affected brother is GM16770;mother is GM16768;father is GM16769.

characteristic: description

text: ASHKENAZI

text: twin sister

text: IKBKAP

text: T>C

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Neuropathy, hereditary sensory and autonomic type iii

text: Kinase-complex associated protein

text: IKBKAP

text: Monozygotic twin pairs

text: GM16771 female affected Monozygotic twin pairs sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Parkinson disease

text: 81 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinson disease

text: ND27590 male affected Parkinson disease sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Monozygotic twin pairs

text: 7 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;monozygotic twin born at 37 weeks gestation;birth weight 4 lb 8 oz;hypothermia and poor suck in neonatal period;feeding difficulties;poor oral coordination causing nasopharyngeal reflux;dysphagia and dysarthria;profuse drooling;post prandial vomiting;hypotonia;alacrima;blotchy skin;decreased sweating;decreased lingual fungiform papillae;lack of axon flare;decreased deep tendon reflexes;breath holding;developmental delay;labile blood pressure;multiple pneumonias and recurrent respiratory infections;no scoliosis;weight <5th percentile;corneal reflexes are present;impaired temperature sensation;vibration sense almost normal;atypical absence seizures;donor subject is homozygous for the 2507+6T>C mutation in the IKBKAP gene;this donor splice site mutation (IVS20+6T>C) leads to deletion of exon 20 from the mRNA;DNA testing for Fragile X syndrome was negative;affected monozygotic twin sister is GM16771 and affected brother is GM16770;mother is GM16768;father is GM16769.

text: ASHKENAZI

characteristic: ethnicity

characteristic: family id

text: proband

text: IKBKAP

characteristic: gene

text: T>C

text: Homo sapiens

text: Caucasian

text: Female

text: Kinase-complex associated protein

text: IKBKAP

text: Monozygotic twin pairs

text: GM16772 female affected Monozygotic twin pairs sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Parkinson disease

text: 53 YR

text: B-Lymphocyte

text: NINDS Repository

text: daughter

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: sex

text: PD

text: Parkinson disease

text: ND27591 female affected Parkinson disease sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 24 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Mother of an affected daughter (GM16776);normal plasmalogen levels

text: FRENCH CANADIAN

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: GM16774 female unaffected Rhizomelic chondrodysplasia punctata type 2 sample


text: Coriell

text: live

text: Generic

text: 45 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: parent

text: Homo sapiens

text: Asian

characteristic: race

text: Male

text: ND27593 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 27 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Father of an affected daughter (GM16776);normal plasmalogen levels

characteristic: description

text: FRENCH CANADIAN

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: GM16775 male unaffected Rhizomelic chondrodysplasia punctata type 2 sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Epilepsy

text: 20 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: More than one race

text: Male

text: Epilepsy

text: ND27594 male affected Epilepsy sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 18 MO

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;feeding difficulty;multiple timy cataracts;mild hepatomegaly;normal limbs without rhizomelia;mild diffuse hypotonia;stippling of epiphyses;particularly striking in knees;markedly reduced plasmalogens;deficiency of enzyme DHAP-AT;moderate to severe delays in motor and cognitive function;see GM16728 Fibroblast

text: FRENCH CANADIAN

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: GM16776 female affected Rhizomelic chondrodysplasia punctata type 2 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 70 YR

text: B-Lymphocyte

text: NINDS Repository

text: parent

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: sex

text: ND27595 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: Ichthyosis type unknown

text: 68 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Sardinian;clinically affected;same patient as GM03280 Fibroblast

text: SARDINIAN

text: proband

text: 46;XY.ish Xp22.3(STS+)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Ichthyosis type unknown

characteristic: tag

text: GM16784 male affected Ichthyosis type unknown sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Epilepsy

text: 34 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Epilepsy

text: ND27596 female affected Epilepsy sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Ichthyosis type unknown

text: 23 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Sardinian;clinically affected;two affected brothers (GM16788 & GM16789);same patient as GM05091 Fibroblast

characteristic: description

text: SARDINIAN

text: maternal cousin

text: 46;XY.ish Xp22.3(STS+)

text: Homo sapiens

text: Caucasian

text: Male

text: Ichthyosis type unknown

text: GM16785 male affected Ichthyosis type unknown sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 52 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Control

text: Population/convenience control

text: ND27608 female unaffected Control sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 51 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Sardinian;spouse of GM16787;3 affected children (GM16785;GM16788;& GM16789)

text: SARDINIAN

characteristic: ethnicity

text: in-law

text: 46;XY.ish Xp22.3(STS+)

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

characteristic: sex

text: Ichthyosis type unknown

text: GM16786 male unaffected Ichthyosis type unknown sample


text: Coriell

text: live

text: Generic

text: 18 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Control

characteristic: tag

text: Population/convenience control

text: ND27609 female unaffected Control sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 45 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Sardinian;3 affected children (GM16785;GM16788;& GM16789)

text: SARDINIAN

text: maternal cousin

text: 46;XX.ish Xp22.3(STSx2)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Ichthyosis type unknown

text: GM16787 female unaffected Ichthyosis type unknown sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Tourette syndrome

text: 9 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: 1/2 ashkenazi jewish - on father

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Tourette syndrome

text: ND27613 female affected Tourette syndrome sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Ichthyosis type unknown

text: 18 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Sardinian;clinically affected;two affected brothers (GM16785 & GM16789)

characteristic: description

text: SARDINIAN

text: maternal cousin

text: 46;XY.ish Xp22.3(STS+)

text: Homo sapiens

text: Caucasian

text: Male

text: Ichthyosis type unknown

text: GM16788 male affected Ichthyosis type unknown sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Ichthyosis type unknown

text: 16 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Sardinian;clinically affected;two affected brothers (GM16785 & GM16788)

text: SARDINIAN

characteristic: ethnicity

characteristic: family id

text: maternal cousin

text: 46;XY.ish Xp22.3(STS+)

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Ichthyosis type unknown

text: GM16789 male affected Ichthyosis type unknown sample


text: Coriell

text: live

text: Generic

text: 45 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: ashkenazi jewish

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

characteristic: tag

text: ND27614 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 15 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Sardinian;clinically normal;3 affected brothers (GM16785;GM16788;& GM16789)

text: SARDINIAN

text: maternal cousin

text: 46;XY.ish Xp22.3(STS+)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Ichthyosis type unknown

text: GM16790 male unaffected Ichthyosis type unknown sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 8 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Sardinian;clinically status in question;3 affected brothers (GM16785;GM16788;& GM16789)

text: SARDINIAN

text: maternal cousin

text: 46;XY.ish Xp22.3(STS+)

text: Homo sapiens

text: Caucasian

text: Male

text: Ichthyosis type unknown

text: GM16791 male unaffected Ichthyosis type unknown sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 38 YR

text: B-Lymphocyte

text: NINDS Repository

text: parent

text: Homo sapiens

text: More than one race

text: Female

text: ND27629 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Deafness with dna repair deficiency

text: 12 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: DD129BE;clinically affected;markedly reduced post-UV plasmid host cell reactivation;hypersensitive to killing by UV;severe sensorineural deafness;tans easily;minimal freckling;2 pigmented lesions on back removed;originally read as melanoma later revised to Spitz nevi;no basal cell or squamous cell carcinomas;see GM16736 Lymphoid

characteristic: description

characteristic: family id

text: proband

text: 46;XY;t(9;22)(9qter>9p22::22q11.2>22qter;22pter>22q11.2::9p22>9pter).ish (ARSA+;TUPLE 1-;TUPLE 1+;ARSA-)

text: Homo sapiens

text: Caucasian

text: Male

text: Deafness with dna repair deficiency

text: GM16792 male affected Deafness with dna repair deficiency sample


text: Coriell

text: live

text: Generic

text: Epilepsy

text: 9 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Epilepsy

text: ND27637 male affected Epilepsy sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: 31 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinicall affected;skin biopsy taken from the arm;affected sister is GM16835;moderate scoliosis;moderate kyphosis;blue sclerae;fair dentition;bone density score for spine indicates osteoporosis;bone density score for hip (neck) indicates osteopenia;history of three fractures;donor is heterozygous for the founder mutation which is a missense mutation resulting from a substitution of G>T at nucleotide 2237 in codon 610 in exon 35 of the COL1A2 gene Gly610Cys (G610C)

text: AMISH

characteristic: ethnicity

text: niece

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Osteogenesis imperfecta type iv

characteristic: tag

text: Collagen type i alpha-2

text: GM16794 female affected OI4 sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 40 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: parent

text: Homo sapiens

text: African American

characteristic: race

text: Male

text: ND27638 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: FRDA

text: 15 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;onset at 5 years of age;scoliosis;cerebellar ataxia;dysarthria;nystagmus;impaired position and vibratory sense;donor subject has alleles with GAA triplet repeat expansions of 750 repeats and 1000 repeats in the first intron of the frataxin gene

characteristic: description

characteristic: family id

text: proband

text: FXN

text: (GAA)n EXPANSION

text: Homo sapiens

text: Caucasian

text: Female

text: Frataxin

text: FRDA

text: FXN

text: Friedreich ataxia 1

text: GM16798 female affected FRDA sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Epilepsy

text: 4 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Epilepsy

text: ND27654 male affected Epilepsy sample


text: Coriell

text: live

text: Generic

text: 39 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Basal cell carcinoma of the temple at age 30;Spitz nevus at age 38;mother of an affected daughter (GM16801);see GM16800 Fibroblast

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

characteristic: tag

text: XPD

text: GM16799 female unaffected Xeroderma pigmentosum, complementation group d sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 40 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND27655 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 39 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Skin biopsy taken from the upper arm;basal cell carcinoma of the temple at age 30;Spitz nevus at age 38;mother of an affected daughter (GM16802);see GM16799 Lymphoid

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: XPD

text: GM16800 female unaffected Xeroderma pigmentosum, complementation group d sample


text: Coriell

text: live

text: Generic

text: 37 YR

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: ND27656 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 16 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: XP221BE;clinically affected;mild freckling;sun sensitivity with marked blistering;photophobia;bilateral ptygaria since age 3;excised at age 11;multiple basal cell carcinomas of the face beginning at age 14;see GM16802 Fibroblast

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: XPD

text: GM16801 female affected Xeroderma pigmentosum, complementation group d sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Progressive supranuclear palsy

text: 63 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Progressive supranuclear palsy

text: ND27657 male affected Progressive supranuclear palsy sample


text: Coriell

text: live

text: Generic

text: 16 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: XP221BE;skin biopsy taken from upper arm;clinically affected;mild freckling;sun sensitivity with marked blistering;photophobia;bilateral ptygaria since age 3;excised at age 11;multiple basal cell carcinomas of the face beginning at age 14;see GM16801 Lymphoid

characteristic: description

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: XPD

text: GM16802 female affected Xeroderma pigmentosum, complementation group d sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 61 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND27659 female unaffected Population/convenience control sample


text: Coriell

text: live

text: Generic

text: 42 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Basal cell carcinoma of the right shoulder at age 40;father of an affected daughter (GM16801)

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: XPD

text: GM16807 male unaffected Xeroderma pigmentosum, complementation group d sample


text: Coriell

text: live

text: Generic

text: Epilepsy

text: 26 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Epilepsy

characteristic: tag

text: ND27662 male affected Epilepsy sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 32 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Mother of a child with mosaic complete uniparental paternal isodisomy (GM16810)

text: mother

text: 45;X 4 /46;XX 46;46;XX

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Complete paternal uniparental disomy

text: GM16808 female unaffected Complete paternal uniparental disomy sample


text: Coriell

text: live

text: Generic

text: Progressive supranuclear palsy

text: 79 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Progressive supranuclear palsy

text: ND27678 male affected Progressive supranuclear palsy sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 41 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Father of a child with mosaic complete uniparental paternal isodisomy (GM16810)

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Complete paternal uniparental disomy

text: GM16809 male unaffected Complete paternal uniparental disomy sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 77 YR

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: ND27679 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Complete paternal uniparental disomy

text: 2 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Mosaic complete uniparental paternal isodisomy;microcephaly;dysphagia;hepatomegaly;hypotonia;developmental delay;atrial septal defect;bilateral nodular adrenal hyperplasia;asymmetrical leg length;enlarged second toe on left foot

characteristic: description

characteristic: family id

text: proband

text: 46;XX;46;XX;complete upd pat

text: Homo sapiens

text: Caucasian

text: Female

text: Complete paternal uniparental disomy

text: Copy number variation (cnv) refernece panel 02

text: GM16810 female affected Complete paternal uniparental disomy sample


text: Coriell

text: live

text: Generic

text: Epilepsy

text: 23 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Epilepsy

text: ND27682 male affected Epilepsy sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Alexander disease

text: 23 MO

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Line ALX-1;floppy at birth;macrocephalic;at one month abnormal eye movements (sun-downing);CAT scan at two months showed borderline hydrocephalus and at four months decreased density white matter;by 11 months MRI showed frontal leukodystrophy;onset of seizures at 13 months;nasogastric tube at 16 months;respiratory;then cardiac arrest and death at 30 months;autopsy confirmed diagnosis;donor subject is heterozygous for a mutation in codon 239 of the GFAP gene;a C-to-T transition at nucleotide 729 (729C>T) results in an arg239-to-cys mutation ARG239CYS (R239C) .

text: GFAP

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Glial fibrillary acidic protein

characteristic: tag

text: Alexander disease

text: GFAP

text: GM16824 male affected Alexander disease sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 57 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: parent

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: ND27683 male 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

characteristic: NCBI submission model

text: Alexander disease

text: 6 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Line ALX-2;slightly floppy with poor eye contact in the first year;at 18 months increasing head size and beginning of regression. MRI at 2.5 years showed white matter deterioration and ventricular cyst;first seizure at age 3.5 years;at 5.5 years had frequent and longer seizures and swallowing difficulties;died at 6 years;3 months of age;autopsy confirmed the diagnosis;donor subject is heterozygous for a mutation in codon 239 of the GFAP gene;a C-to-T transition at nucleotide 729 (729C>T) results in an arg239-to-cys mutation ARG239CYS (R239C) .

text: GFAP

text: Homo sapiens

text: Caucasian

text: Male

text: Glial fibrillary acidic protein

text: Alexander disease

text: GFAP

text: GM16825 male affected Alexander disease sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Subarachnoid hemorrhage

text: 45 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Subarachnoid hemorrhage

text: ND27689 female affected Subarachnoid hemorrhage sample


text: Coriell

text: live

text: Generic

text: Alexander disease

text: 4 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Line ALX-3;at age two months was hypotonic and developed seizures;large head (53cm circumference);at 13 months had shunt placed for hydrocephalus and biopsy confirmed diagnosis;significant developmental delay;MRI showed abnormal signal white matter and basal ganglia;at age 8;in wheelchair and quite retarded;donor subject is heterozygous for a C-to-T transition at nucleotide 249 (249C>T) of the GFAP gene;which results in an arg79-to-cys amino acid substitution ARG79CYS (R79C) .

characteristic: description

text: GFAP

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Glial fibrillary acidic protein

text: Alexander disease

text: GFAP

text: GM16826 male affected Alexander disease sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 33 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;mild kyphosis;white sclerae;poor dentition;joint flexibility abnormal for elbows;bone density score for spine indicates osteoporosis;skin biopsy taken from arm;affected sister is GM16794;see GM16834 Lymphoid;donor is heterozygous for the founder mutation which is a missense mutation resulting from a substitution of G>T at nucleotide 2237 in codon 610 in exon 35 of the COL1A2 gene Gly610Cys (G610C)

text: AMISH

characteristic: ethnicity

text: niece

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Osteogenesis imperfecta type iv

text: Collagen type i alpha-2

text: GM16835 female affected OI4 sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 45 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: identical twin sister

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Intracranial aneurysm - unruptured

characteristic: tag

text: ND27691 female affected Intracranial aneurysm - unruptured sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 87 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;mild scoliosis;mild kyphosis;white sclerae;edent dentition;bone density score for hip (neck) indicates osteoporosis;history of one fracture;see GM16852 Fibroblast;donor is heterozygous for the founder mutation which is a missense mutation resulting from a substitution of G>T at nucleotide 2237 in codon 610 in exon 35 of the COL1A2 gene Gly610Cys (G610C)

text: AMISH

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Osteogenesis imperfecta type iv

text: Collagen type i alpha-2

text: GM16851 female affected OI4 sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 49 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: ash j

characteristic: family id

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND27694 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 87 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;skin biopsy taken from the arm;mild scoliosis;mild kyphosis;white sclerae;edent dentition;bone density score for hip (neck) indicates osteoporosis;history of one fracture;see GM16851 Lymphoid;donor is heterozygous for the founder mutation which is a missense mutation resulting from a substitution of G>T at nucleotide 2237 in codon 610 in exon 35 of the COL1A2 gene Gly610Cys (G610C)

characteristic: description

text: AMISH

characteristic: ethnicity

text: proband

characteristic: gene

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Osteogenesis imperfecta type iv

text: Collagen type i alpha-2

text: GM16852 female affected OI4 sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 43 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: parent

text: Homo sapiens

text: More than one race

text: Female

characteristic: sex

text: ND27710 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 83 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;mild scoliosis;white sclerae;edent dentition;osteoarthritis;history of hearing loss;bone density score for spine and hip (neck) indicates osteoporosis;history of two fractures;see GM16854 Fibroblast;donor is heterozygous for the founder mutation which is a missense mutation resulting from a substitution of G>T at nucleotide 2237 in codon 610 in exon 35 of the COL1A2 gene Gly610Cys (G610C)

text: AMISH

text: brother

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Osteogenesis imperfecta type iv

characteristic: tag

text: Collagen type i alpha-2

text: GM16853 male affected OI4 sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 49 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: parent

text: Homo sapiens

text: Caucasian

text: Male

text: ND27711 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 83 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;skin biopsy taken from the arm;mild scoliosis;white sclerae;edent dentition;osteoarthritis;history of hearing loss;bone density score for spine and hip (neck) indicates osteoporosis;history of two fractures;see GM16853 Lymphoid;donor is heterozygous for the founder mutation which is a missense mutation resulting from a substitution of G>T at nucleotide 2237 in codon 610 in exon 35 of the COL1A2 gene Gly610Cys (G610C)

characteristic: description

text: AMISH

characteristic: ethnicity

characteristic: family id

text: brother

characteristic: gene

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Osteogenesis imperfecta type iv

text: Collagen type i alpha-2

text: GM16854 male affected OI4 sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Tourette syndrome

text: 9 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Tourette syndrome

text: ND27718 male affected Tourette syndrome sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 43 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;B. S. Registry # 107;increased sister chromatid exchange;diffuse histiocytic tonsil lymphoma diagnosed at age 26 years;breast carcinoma diagnosed at age 34 years;biopsy taken from the cervix uteri at time of surgery for cancer;one affected sister;donor subject is homozygous for a 6-bp deletion/7-bp insertion 6-bp del/7-bp ins at nucleotide 2;281 of the open reading frame of the RECQL3 gene;which results in a frameshift and a stop codon.

text: ASHKENAZI/SEPHARDIC

text: 6-BP DEL/7-BP INS

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: tag

text: BLM

text: Bloom syndrome

text: Recq protein-like 3

text: GM16859 female affected RECQL3 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 43 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND27719 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 57 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;deceased at age 60 from arrhythmia;well until adulthood;then slowly progressive proximal muscle weakness;cardiomyopathy with heart blockage;elbow contractures;no family history;donor subject has a five bp insertion in exon 6 at nucleotide 1712 (1712-1713insTGGGC) of the emerin (EMD) gene;resulting in a frameshift and a stop codon at amino acid 238.

characteristic: description

text: EMD

characteristic: gene

text: Homo sapiens

text: Caucasian

text: Male

text: Emery-dreifuss muscular dystrophy 1

text: EMERIN

text: EMD

text: GM16864 male affected EDMD1 sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 7 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: sister

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND27720 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Peroxisome biogenesis factor 26

text: 22 MO

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;complementation group 8;culture set up from skin biopsy taken from the inner forearm;retinal abnormalities;significant high frequency hearing loss with bilateral hearing aids;reduced peroxisomal plasmalogen synthesis enzymes;elevated very long chain fatty acids;plasma pipecolic acid;phytanic acid;and urinary pipecolic acid;donor subject is a compound heterozygote: one allele has a point mutation of C>T at nucleotide 292 (292C>T) of the PEX26 gene resulting in an arginine to tryptophan change at codon 98 Arg98Trp (R98W);the second allele has a point mutation resulting in a 1 bp insertion at nucleotide 255 in a codon for leucine (G255insT) resulting in a frameshift inducing a 28 amino acid sequence distinct from normal Pex26p

text: 1-BP INS

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Peroxisome biogenesis factor 26

text: Refsum disease, infantile form

text: GM16865 female affected Peroxisome biogenesis factor 26 sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Epilepsy

text: 22 YR

text: B-Lymphocyte

text: NINDS Repository

text: sibling

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Epilepsy

characteristic: tag

text: ND27727 female affected Epilepsy sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Zellweger syndrome

text: 14 FW

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;complementation group 8;culture set up from skin biopsy taken from the inner forearm;transverse palmar creases;large anterior fontanelle;hypotonia;failure to thrive;developmental delay;jaundice;broad nasal bridge;bilateral hypergyration;asymmetric cranium with plagiocephaly;small ears;supraorbital ridge hypoplasia;narrow palpebral fissures;5th nail hypoplasia;bilateral nail hypoplasia on big toe;renal cortical cysts;hepatic fibrosis and bile stasis;patent ductus arteriosus;affected older sister;deficient peroxisomal plasmalogen synthesis enzymes;elevated very long chain fatty acids

text: Homo sapiens

text: Caucasian

text: Female

text: Zellweger syndrome

text: ZS

text: GM16866 female affected Zellweger syndrome sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 34 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;white sclerae;bone density score for spine indicates osteopenia;history of two fractures;affected sisters are GM16794 Fibroblast and GM16834

text: AMISH

characteristic: ethnicity

text: nephew

text: Homo sapiens

text: Caucasian

text: Male

text: Osteogenesis imperfecta type iv

text: Collagen type i alpha-2

text: GM16878 male unaffected OI4 sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Epilepsy

text: 14 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy

text: ND27728 male affected Epilepsy sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 34 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;white sclerae;bone density score for spine indicates osteopenia;history of two fractures;affected sisters are GM16794 and GM16835

characteristic: description

text: AMISH

characteristic: family id

text: nephew

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Osteogenesis imperfecta type iv

text: Collagen type i alpha-2

text: GM16879 male unaffected OI4 sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Epilepsy

text: 38 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Epilepsy

text: ND27729 male affected Epilepsy sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 31 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;B. S. Registry # 6;born at term;birth weight = 2;116 grams;at age 18 years;weight = 35 kg;height = 143 cm;sun sensitive facial telangiectasias;cafe-au-lait spots;squamous cell carcinoma of the epiglottis;disseminated lymphoma;died at age 30;elevated sister chromatid exchange;increased chromosome breakage;culture established from skin specimen taken at autopsy;donor subject is homozygous for a 1-bp deletion at nucleotide 2923 of the RECQL3 gene 2923delC resulting in a frameshift fs:974+23-X .

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: tag

text: BLM

text: Bloom syndrome

text: Recq protein-like 3

text: GM16881 male affected RECQL3 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 52 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: parent

text: Homo sapiens

text: More than one race

text: Male

text: ND27730 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 3 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;B.S. Registry # 26;born at term;birth weight = 2;229 grams;at age 1.3 years: weight = 6.3 kg;height = 66 cm;at age 1 year head circumference = 40.8 cm;sun sensitive facial telangiectasias;sacral dimple;elevated chromosome breakage;elevated sister chromosome exchange level;one affected sister;donor is a compound heterozygote: one allele has a 1-bp deletion at nucleotide 3261 of the RECQL3 gene 3261delT and a second allele has a 6-bp deletion/7-bp insertion 6-bp del/7-bp ins at nucleotide 2;281 of the open reading frame of the RECQL3 gene;which results in a frameshift and a stop codon.

characteristic: description

text: ASHKENAZI

characteristic: ethnicity

text: 6-BP DEL/7-BP INS

text: Homo sapiens

text: Caucasian

text: Female

text: BLM

text: Bloom syndrome

text: Recq protein-like 3

text: GM16882 female affected RECQL3 sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 25 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;B.S. Registry # 31;born at term;birth weight = 1;980 grams;at age 8.2 years: weight = 13.1 kg;height = 105 cm;head circumference = 46 cm;sun sensitive facial telangiectasias;12% of cells showed chromosome breakage;6-10 fold increase in sister chromosome exchange levels in both lymphocytes and fibroblasts;donor subject is a compound heterozygote: one allele has an A>G transition at nucleotide 2015 of the RECQL3 gene 2015A>G resulting in a substitution of arginine for glutamine at codon 672 Gln672Arg (Q672R) and the second allele has an A>G transition in intron 5 of the RECQL3 gene IVS5-2A>G .

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: BLM

text: Bloom syndrome

text: Recq protein-like 3

text: GM16883 female affected RECQL3 sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Epilepsy

text: 16 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: More than one race

text: Male

characteristic: sex

text: Epilepsy

text: ND27732 male affected Epilepsy sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 7 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;B.S. Registry # 59;typical features;mean sister chromosome exchange level was 37.8 and the range was 24-49;donor subject has one allele with a C>T transition at nucleotide 2098 of the RECQL3 gene 2098C>T resulting in a substitution of a termination signal for glutamine at codon 700 Gln700Ter (Q700X) .

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: tag

text: BLM

text: Bloom syndrome

text: Recq protein-like 3

text: GM16886 male affected RECQL3 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 13 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;B.S. Registry #133;24% chromosomal breakage including quadriradials and rings;10 fold increase in sister chromosome exchange levels;donor subject is homozygous for a C>T transition at nucleotide 1933 of the RECQL3 gene 1933C>T resulting in a substitution of a termination signal for glutamine at codon 645 Gln645Ter (Q645X) .

text: Homo sapiens

text: Caucasian

text: Female

text: BLM

text: Bloom syndrome

text: Recq protein-like 3

text: GM16890 female affected RECQL3 sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Epilepsy

text: 9 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: sibling

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy

text: ND27733 male affected Epilepsy sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 30 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;B.S. Registry # 169;elevated sister chromosome exchange;donor subject is homozygous for a C>T transition at nucleotide 1933 of the RECQL3 gene 1933C>T resulting in a substitution of a termination signal for glutamine at codon 645 Gln645Ter (Q645X) .

characteristic: description

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: BLM

text: Bloom syndrome

text: Recq protein-like 3

text: GM16891 male affected RECQL3 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: 74 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;skin biopsy taken from arm;blue sclerae;edent dentition;osteoarthritis;bone density score for spine indicates osteoporosis and bone density score for hip (neck) indicates osteopenia;history of one fracture;donor is heterozygous for the founder mutation which is a missense mutation resulting from a substitution of G>T at nucleotide 2237 in codon 610 in exon 35 of the COL1A2 gene Gly610Cys (G610C)

text: AMISH

characteristic: ethnicity

characteristic: family id

text: sister

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Osteogenesis imperfecta type iv

text: Collagen type i alpha-2

text: GM16923 female affected OI4 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Epilepsy

text: 7 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Epilepsy

characteristic: tag

text: ND27734 male affected Epilepsy sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 44 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;white sclerae;poor dentition;history of hearing loss;bone density score for spine indicates osteoporosis and bone density score for hip (neck) indicates osteopenia;history of two bone fractures;see GM16925 Fibroblast;donor is heterozygous for the founder mutation which is a missense mutation resulting from a substitution of G>T at nucleotide 2237 in codon 610 in exon 35 of the COL1A2 gene Gly610Cys (G610C)

text: AMISH

text: nephew

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Osteogenesis imperfecta type iv

text: Collagen type i alpha-2

text: GM16924 male affected OI4 sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Progressive supranuclear palsy

text: 66 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Progressive supranuclear palsy

text: ND27735 male affected Progressive supranuclear palsy sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: 44 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;white sclerae;poor dentition;history of hearing loss;bone density score for spine indicates osteoporosis and bone density score for hip (neck) indicates osteopenia;history of two bone fractures;see GM16924 Lymphoid;donor is heterozygous for the founder mutation which is a missense mutation resulting from a substitution of G>T at nucleotide 2237 in codon 610 in exon 35 of the COL1A2 gene Gly610Cys (G610C)

characteristic: description

text: AMISH

text: nephew

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Osteogenesis imperfecta type iv

text: Collagen type i alpha-2

text: GM16925 male affected OI4 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 59 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Population/convenience control

text: ND27736 female unaffected Population/convenience control sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 49 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: XPH288BE;clinically normal mother of two affected children (GM16954 and GM16956);see GM16951 Fibroblast

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: XPD

text: GM16950 female unaffected Xeroderma pigmentosum, complementation group d sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Epilepsy

text: 28 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy

text: ND27753 male affected Epilepsy sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 49 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: XPH288BE;clinically normal mother of two affected children (GM16955 and GM16957);skin biopsy taken from upper arm;see GM16950 Lymphoid

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: XPD

text: GM16951 female unaffected Xeroderma pigmentosum, complementation group d sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 55 YR

text: B-Lymphocyte

text: NINDS Repository

text: parent

text: Homo sapiens

text: African American

text: Female

text: ND27754 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 51 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically normal father of two affected children (GM16954 and GM16956);see GM16953 Fibroblast

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: XPD

text: GM16952 male unaffected Xeroderma pigmentosum, complementation group d sample


text: Coriell

text: live

text: Generic

text: 51 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically normal father of two affected children (GM16955 and GM16957);skin biopsy taken from upper arm;see GM16952 Lymphoid

characteristic: description

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: XPD

text: GM16953 male unaffected Xeroderma pigmentosum, complementation group d sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Epilepsy

text: 7 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: African American

text: Female

text: Epilepsy

text: ND27755 female affected Epilepsy sample


text: Coriell

text: live

text: Generic

text: 23 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: XP34BE;clinically affected;marked sun sensitivity;but was well protected;now has minimal skin changes;freckling of lips;reduced post-UV cell survival;bilateral ptygeria of conjunctiva;affected sister is GM16956;see GM16955 Fibroblast

text: brother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: XPD

text: GM16954 male affected Xeroderma pigmentosum, complementation group d sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 23 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: XP34BE;clinically affected;skin biopsy taken from upper arm;marked sun sensitivity;but was well protected;now has minimal skin changes;freckling of lips;reduced post-UV cell survival;bilateral ptygeria of conjunctiva;affected sister is GM16957;see GM16954 Lymphoid

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: XPD

text: GM16955 male affected Xeroderma pigmentosum, complementation group d sample


text: Coriell

text: live

text: Generic

text: Parkinson disease familial type 1

text: 55 YR

characteristic: cell line

text: Fibroblast

text: NINDS Repository

text: Iowan Kindred;same sample as ND00139 (lymphoblastoid cell line);ND34391 (iPSC);GM15844

text: Scottish;German;Irish;English

characteristic: ethnicity

text: proband

text: SNCA

characteristic: gene

text: TRIPLICATION

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: Parkinson disease familial type 1

text: ND27760 female affected Parkinson disease familial type 1 sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 19 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: XP35BE;clinically affected;marked sun sensitivity;but was well protected;now has minimal skin changes;no cancers;freckling of lips;reduced post-UV cell survival;affected brother is GM16954;see GM16957 Fibroblast

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: XPD

text: GM16956 female affected Xeroderma pigmentosum, complementation group d sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 19 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: XP35BE;clinically affected;skin biopsy taken from upper arm;marked sun sensitivity;but was well protected;now has minimal skin changes;no cancers;freckling of lips;reduced post-UV cell survival;affected brother is GM16955;see GM16956 Lymphoid

characteristic: description

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: XPD

text: GM16957 female affected Xeroderma pigmentosum, complementation group d sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Tourette syndrome

text: 8 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Tourette syndrome

text: ND27761 male affected Tourette syndrome sample


text: Coriell

text: live

text: Generic

text: 58 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;see GM16964 Fibroblast;mild kyphosis;blue sclerae;edent dentition;abnormal joint flexibility in elbow;elevated alkaline phosphatase;bone density score for spine and hip (neck) indicates osteoporosis;history of eight fractures;donor is heterozygous for the founder mutation which is a missense mutation resulting from a substitution of G>T at nucleotide 2237 in codon 610 in exon 35 of the COL1A2 gene Gly610Cys (G610C)

text: AMISH

characteristic: ethnicity

text: proband

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Osteogenesis imperfecta type iv

text: Collagen type i alpha-2

text: GM16963 female affected OI4 sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 38 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND27762 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 58 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;see GM16963 Lymphoid;mild kyphosis;blue sclerae;edent dentition;abnormal joint flexibility in elbow;elevated alkaline phosphatase;bone density score for spine and hip (neck) indicates osteoporosis;history of eight fractures;donor is heterozygous for the founder mutation which is a missense mutation resulting from a substitution of G>T at nucleotide 2237 in codon 610 in exon 35 of the COL1A2 gene Gly610Cys (G610C)

characteristic: description

text: AMISH

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Osteogenesis imperfecta type iv

text: Collagen type i alpha-2

text: GM16964 female affected OI4 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Tourette syndrome

text: 38 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: father

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Tourette syndrome

text: ND27763 male affected Tourette syndrome sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 80 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;see GM16966 Fibroblast;moderate kyphosis;edent dentition;history of heart mumur and hearing loss;bone density score for spine and hip (neck) indicates osteopenia.

text: AMISH

characteristic: ethnicity

text: maternal aunt

text: Homo sapiens

text: Caucasian

text: Female

text: Osteogenesis imperfecta type iv

text: Collagen type i alpha-2

text: GM16965 female unaffected OI4 sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Epilepsy

text: 43 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy

characteristic: tag

text: ND27777 male affected Epilepsy sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 80 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically normal;skin biopsy taken from the arm;see GM16965 Lymphoid;moderate kyphosis;edent dentition;history of heart mumur and hearing loss;bone density score for spine and hip (neck) indicates osteopenia.

text: AMISH

text: maternal aunt

text: Homo sapiens

text: Caucasian

text: Female

text: Osteogenesis imperfecta type iv

text: Collagen type i alpha-2

text: GM16966 female unaffected OI4 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 51 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

characteristic: organism

text: African American

text: Female

text: Control

text: Population/convenience control

text: ND27793 female unaffected Control sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 40 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal spouse of GM16969;white sclerae;poor dentition;history of heart mumur;see GM16968 Fibroblast

characteristic: description

text: AMISH

characteristic: family id

text: sister-in-law

text: Homo sapiens

text: Caucasian

text: Female

text: Osteogenesis imperfecta type iv

text: Collagen type i alpha-2

text: GM16967 female unaffected OI4 sample


text: Coriell

text: live

text: Generic

text: 29 YR

text: B-Lymphocyte

text: NINDS Repository

text: son

text: Homo sapiens

text: African American

characteristic: race

text: Male

characteristic: sex

text: Control

text: Population/convenience control

text: ND27795 male unaffected Control sample

characteristic: title


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 40 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically normal spouse of GM16970;skin biopsy taken from the arm;white sclerae;poor dentition;history of heart mumur;see GM16967 Lymphoid

text: AMISH

text: sister-in-law

text: Homo sapiens

text: Caucasian

text: Female

text: Osteogenesis imperfecta type iv

text: Collagen type i alpha-2

text: GM16968 female unaffected OI4 sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Epilepsy

text: 25 YR

text: B-Lymphocyte

text: NINDS Repository

text: sibling

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy

text: ND27801 male affected Epilepsy sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 51 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;blue scalerae;edent dentition;history of kidney stones;bone density score for spine indicates osteoporosis;history of eight fractures;see GM16970 Fibroflast;donor is heterozygous for the founder mutation which is a missense mutation resulting from a substitution of G>T at nucleotide 2237 in codon 610 in exon 35 of the COL1A2 gene Gly610Cys (G610C)

text: AMISH

characteristic: ethnicity

text: brother

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Osteogenesis imperfecta type iv

characteristic: tag

text: Collagen type i alpha-2

text: GM16969 male affected OI4 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 51 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;skin biopsy taken from arm;see GM16969 Lymphoid;blue scalerae;edent dentition;history of kidney stones;bone density score for spine indicates osteoporosis;history of eight fractures;donor is heterozygous for the founder mutation which is a missense mutation resulting from a substitution of G>T at nucleotide 2237 in codon 610 in exon 35 of the COL1A2 gene Gly610Cys (G610C)

characteristic: description

text: AMISH

characteristic: family id

text: brother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Osteogenesis imperfecta type iv

text: Collagen type i alpha-2

text: GM16970 male affected OI4 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 66 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Intracranial aneurysm - unruptured

text: ND27802 female affected Intracranial aneurysm - unruptured sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 48 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;mild kyphosis;blue sclerae;poor dentition;bone density score for spine and hip (neck) indicates osteoporosis;history of one fracture;donor is heterozygous for the founder mutation which is a missense mutation resulting from a substitution of G>T at nucleotide 2237 in codon 610 in exon 35 of the COL1A2 gene Gly610Cys (G610C)

text: AMISH

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Osteogenesis imperfecta type iv

text: Collagen type i alpha-2

text: GM16972 male affected OI4 sample


text: Coriell

text: live

text: Generic

text: 39 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: parent

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: ND27821 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 11 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Diagnosed with Asperger's syndrome;severe receptive and expressive speech and language delay;head banging;rocking;and grunting

text: proband

text: 46;XY.ish(15) D15Z+;D15Z1+;142b22 amp;(D15S63;ICBD3;PAR-5;SNRPN)+

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Autistic disorder

text: Inverted chromosome

text: GM16994 male unaffected Autistic disorder sample


text: Coriell

text: live

text: Generic

text: ZS

text: 7 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;skin biopsy taken from inner forearm;complementation group 8;hypotonic with no deep tendon refexes;prominent anterior fontanel;seizure disorder;hepatomegaly;gastroesophageal reflux with pyloric stenosis;died at 9 months of age;deficient peroxisomal plasmalogen synthesis enzymes;amounts of c26:0 and c26:1 and the c26:0/c22:0 ratio are much higher than normal;phytanic acid oxidase is less than half of 1% of normal;donor subject is homozygous for a mutation in the splice-donor site of intron 2 in the PEX26 gene c.230 +1;G>T (IVS2+1;G>T);which leads to a frameshift at codon 77 and premature termination (T77fs139X)

characteristic: description

characteristic: gene

characteristic: mutation

text: G>T

text: Homo sapiens

text: Hispanic/Latino

text: Female

text: Peroxisome biogenesis factor 26

text: Zellweger syndrome

text: ZS

text: GM17398 female affected ZS sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 39 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: parent

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: ND27822 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Refsum disease, infantile form

text: 5 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;skin biopsy taken from inner forearm;group 8;dolichocephaly;prominent forehead;retinitis pigmentosa;broad nasal bridge;high-arched palate;leukodystrophy;mental retardation;deficient phytanic acid oxidation;amounts of c26:0;c26:1;and the ratios of c24/c22 and c26/c22 are higher than normal;lower than normal c22:6n-3;both plasma and urinary pipecolate levels are significantly higher than normal;deficient peroxisomal plasmalogen synthesis enzymes;higher than normal very long chain fatty acids;affected sister is GM17399

text: brother

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Refsum disease, infantile form

text: Retinitis pigmentosa 1

text: GM17400 male affected Refsum disease, infantile form sample

characteristic: title


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 43 YR

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;skin biopsy taken from the arm;mild kyphosis;white sclerae;fair dentition;bone density score for spine indicates osteoporosis;history of nine bone fractures;affected son is GM17414;donor is heterozygous for the founder mutation which is a missense mutation resulting from a substitution of G>T at nucleotide 2237 in codon 610 in exon 35 of the COL1A2 gene Gly610Cys (G610C)

text: AMISH

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Osteogenesis imperfecta type iv

characteristic: tag

text: Collagen type i alpha-2

text: GM17410 male affected OI4 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: Epilepsy

text: 26 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

text: ND27823 female affected Epilepsy sample


text: Coriell

text: live

text: Generic

text: 10 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal son of an affected father (GM17410 Fibroblast);white sclerae;good dentition;history of joint laxity;elevated alkaline phosphatase;bone density score for spine indicates osteoporosis;affected brother is GM17413

characteristic: description

text: AMISH

characteristic: family id

text: son

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Osteogenesis imperfecta type iv

text: Collagen type i alpha-2

text: GM17411 male unaffected OI4 sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 33 YR

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: ND27829 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 10 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically normal son of an affected father (GM17410);skin biopsy taken from the arm;affected brother is GM17414;white sclerae;good dentition;history of joint laxity;elevated alkaline phosphatase;bone density score for spine indicates osteoporosis;see GM17411 Lymphoid

text: AMISH

text: son

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Osteogenesis imperfecta type iv

text: Collagen type i alpha-2

text: GM17412 male unaffected OI4 sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 15 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: ND27830 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 7 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;white sclerae;good dentition;history of joint laxity;elevated alkaline phosphatase;bone density score for spine and hip (neck) indicates osteoporosis;history of one fracture;affected father is GM17410 Fibroblast;see GM17414 Fibroblast;donor is heterozygous for the founder mutation which is a missense mutation resulting from a substitution of G>T at nucleotide 2237 in codon 610 in exon 35 of the COL1A2 gene Gly610Cys (G610C)

text: AMISH

characteristic: ethnicity

text: son

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Osteogenesis imperfecta type iv

characteristic: tag

text: Collagen type i alpha-2

text: GM17413 male affected OI4 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 74 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: parent

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: ND27831 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 7 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;skin biopsy taken from the arm;white sclerae;good dentition;history of joint laxity;elevated alkaline phosphatase;bone density score for spine and hip (neck) indicates osteoporosis;history of one fracture;affected father is GM17410;see GM17413 Lymphoid;donor is heterozygous for the founder mutation which is a missense mutation resulting from a substitution of G>T at nucleotide 2237 in codon 610 in exon 35 of the COL1A2 gene Gly610Cys (G610C)

characteristic: description

text: AMISH

text: son

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Osteogenesis imperfecta type iv

text: Collagen type i alpha-2

text: GM17414 male affected OI4 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 21 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: parent

text: Homo sapiens

text: African American

text: Female

characteristic: sex

text: ND27840 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 37 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal spouse of GM17410 Fibroblast;white sclerae;fair dentition;joint flexibility abnormal;abnormal joint #1 increased;bone density score is normal;history of one bone fracture;see GM17416 Fibroblast

text: AMISH

characteristic: ethnicity

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Osteogenesis imperfecta type iv

characteristic: tag

text: Collagen type i alpha-2

text: GM17415 female unaffected OI4 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Epilepsy

text: 1 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: African American

text: Male

text: Epilepsy

text: ND27841 male affected Epilepsy sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 37 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically normal spouse of GM17410;skin biopsy taken from the arm;white sclerae;fair dentition;joint flexibility abnormal;abnormal joint #1 increased;bone density score is normal;history of one bone fracture;see GM17415 Lymphoid

text: AMISH

characteristic: family id

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Osteogenesis imperfecta type iv

text: Collagen type i alpha-2

text: GM17416 female unaffected OI4 sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Parkinson disease

text: 69 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinson disease

text: ND27855 male affected Parkinson disease sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 45 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;sun sensitivity;multiple melanomas;extensive freckling of face;arms;trunk;and legs;depigmented areas on dorsa of hands;affected brother is GM17419;product of a consanguineous marriage;see GM17418 Fibroblast

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: XPC

text: GM17417 female affected Xeroderma pigmentosum, complementation group c sample


text: Coriell

text: live

text: Generic

text: 65 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: wife

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: ND27856 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 45 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;sun sensitivity;multiple melanomas;extensive freckling of face;arms;trunk;and legs;depigmented areas on dorsa of hands;affected brother is GM17420;product of a consanguineous marraiage;see GM17417 Lymphoid

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: XPC

text: GM17418 female affected Xeroderma pigmentosum, complementation group c sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Dementia with lewy bodies

text: 70 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Dementia with lewy bodies

characteristic: tag

text: Parkinson disease

text: ND27857 female affected Dementia with lewy bodies sample


text: Coriell

text: live

text: Generic

text: 35 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;extensive freckling on face;trunk;arms;legs;sparing buttocks and axilla;depigmented areas on dorsa of hands;multiple melanomas;affected sister is GM17417;product of a consanguineous marriage;see GM17420 Fibroblast

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: XPC

text: GM17419 male affected Xeroderma pigmentosum, complementation group c sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 78 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: husband

text: Homo sapiens

text: Caucasian

text: Male

text: ND27858 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 35 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;extensive freckling on face;trunk;arms;legs;sparing buttocks and axilla;depigmented areas on dorsa of hands;multiple melanomas;affected sister is GM17418;product of a consanguineous marriage;see GM17419 Lymphoid

text: brother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: XPC

text: GM17420 male affected Xeroderma pigmentosum, complementation group c sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Epilepsy

text: 17 YR

text: B-Lymphocyte

text: NINDS Repository

text: sibling

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy

text: ND27860 male affected Epilepsy sample