text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 13 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal son of an affected mother (GM17417);multiple freckles on face;nose;and upper chest;history of blistering sun burns with several hours exposure

characteristic: description

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: XPC

text: GM17421 male unaffected Xeroderma pigmentosum, complementation group c sample


status: PUBLIC

characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: Epilepsy

tag: attribute

text: 11 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Epilepsy

characteristic: tag

text: ND27861 male affected Epilepsy sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 48 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: XP86BE;clinically affected cousin of GM17417;sun sensitivity;freckling;hyper- & hypo-pigmentation;skin atrophy;neurological abnormalities;several skin cancers since age 7 years including basal cell carcinoma;squamous cell carcinoma;and melanoma;low levels of unscheduled DNA synthesis;see GM16370 Fibroblast

characteristic: description

text: paternal cousin

text: Homo sapiens

text: Caucasian

text: Female

text: XPC

text: GM17422 female affected Xeroderma pigmentosum, complementation group c sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Parkinson disease

text: 82 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinson disease

text: ND27867 male affected Parkinson disease sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 2 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;born at 37 weeks gestation;birth weight = 2;140 g;birth length = 44 cm;feeding problems and poor weight gain in first few months of life;hospitalized for pneumonia at ages of 8;11;and 23 months;all scalp hair was lost within 2-10 days during pneumonia episodes but it did grow back;at age 2 years;length = 70 cm (-5 SD);weight = 6.5 kg (-4 SD);and head circumference = 42 cm (-4 SD);round face with upslanting palpebral fissures;small nose;and slightly receding chin;scalp hair sparse and brittle;nystagmus and convergent strabismus;ichthyosis diagnosed at age 2 years;mild pectus carinatum;mild psychomotor retardation;no neurological symptoms;mild photosensitivity;scanning electron microscopy on hair revealed trichorrhexis nodosa-like fractures with exposure of cortical cells;very low level of cystine in scalp hair (7.59 g nitrogen in cystine per 100 g nitrogen in all amino acids;normal index 14.23);moderate but significant deficiency of DNA repair capacity was demonstrated which appeared to be confined to 6-4 photoproducts with normal excision repair of cyclobutane pyrimidine;cell fusion studies showed that cells from donor subject belong to XP complementation group D;donor subject is a compound heterozygote: one allele has a C>T transition at nucleotide 2050 of the ERCC2/XPD gene 2050C>T resulting in a substitution of cysteine for arginine at codon 658 Arg658Cys (R658C) and the other allele has a G>C transversion at nucleotide 2215 of the ERCC2/XPD gene 2215G>C resulting in a substitution of arginine for glycine at codon 713 Gly713Arg (G713R) .

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Trichothiodystrophy

text: Xeroderma pigmentosum, complementation group d

text: XPD

text: Excision-repair: complementing defective in chinese hamster 2

text: GM17424 female affected Ttd ichthyosiform erythroderma with hair abnormality and mental and growth retardation included sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: 72 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND27868 female unaffected Population/convenience control sample


text: Coriell

text: live

text: Generic

text: 40 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;white sclerae;fair dentition;bone density score for spine indicates osteoporosis;history of five bone fractures;affected brothers are GM17410 Fibroblast and GM17427;see GM17426 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

characteristic: family id

text: sister

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Osteogenesis imperfecta type iv

text: Collagen type i alpha-2

text: GM17425 female affected OI4 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Epilepsy

text: 11 YR

text: B-Lymphocyte

text: NINDS Repository

text: sibling

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Epilepsy

characteristic: tag

text: ND27880 male affected Epilepsy sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 40 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;skin biopsy taken from the arm;white sclerae;fair dentition;bone density score for spine indicates osteoporosis;history of five bone fractures;affected brothers are GM17410 and GM17428;see GM17425 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: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Osteogenesis imperfecta type iv

text: Collagen type i alpha-2

text: GM17426 female affected OI4 sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: Epilepsy

text: 13 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: sibling

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

text: ND27888 female affected Epilepsy sample


text: Coriell

text: live

text: Generic

text: 23 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;white sclerae;good dentition;history of hearing loss;bone density score for spine indicates osteopenia;history of two bone fractures;affected brother is GM17410 Fibroblast and affected sister is GM17425;see GM17428 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: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Osteogenesis imperfecta type iv

text: Collagen type i alpha-2

text: GM17427 male affected OI4 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Epilepsy

text: 12 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Epilepsy

text: ND27889 male affected Epilepsy sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 23 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;skin biopsy taken from the arm;white sclerae;good dentition;history of hearing loss;bone density score for spine indicates osteopenia;history of two bone fractures;affected brother is GM17410 and affected sister is GM17426;see GM17427 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: brother

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Osteogenesis imperfecta type iv

characteristic: tag

text: Collagen type i alpha-2

text: GM17428 male affected OI4 sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Epilepsy

text: 16 YR

text: B-Lymphocyte

text: NINDS Repository

text: sibling

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

text: ND27893 female affected Epilepsy sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 7 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Developmental delay;choroidal coloboma;absent middle finger on right hand

characteristic: description

text: proband

text: 46;XY;ins(11;6)(11pter>11p14::6q23>6q24::11p14>11qter;6pter>6q23::6q24>6qter).ish ins(11;6)(wcp6+;wcp11+;wcp6+;wcp11-)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Chromosome insertion

text: GM17437 male unaffected Chromosome insertion sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 59 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: parent

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: ND27910 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 41 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Mexican-American;all four grandparents were born in Mexico

text: MEXICAN-AMERICAN

characteristic: ethnicity

text: Homo sapiens

text: Hispanic/Latino

text: Female

characteristic: sex

text: Human variation panel - mexican-american community of los angeles panel of 16

characteristic: tag

text: Human variation panel - mexican-american community of los angeles panel of 24

text: Human variation panel - mexican-american community of los angeles panel of 100 (version 2)

text: GM17438 female unaffected Human variation panel - mexican-american community of los angeles panel of 8 sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Tourette syndrome

text: 55 YR

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND27916 male affected Tourette syndrome sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 32 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: MEXICAN-AMERICAN

text: Homo sapiens

text: Hispanic/Latino

text: Female

text: GM17439 female unaffected Human variation panel - mexican-american community of los angeles panel of 8 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Tourette syndrome

text: 19 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Tourette syndrome

text: ND27917 female affected Tourette syndrome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 35 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: description

text: MEXICAN-AMERICAN

text: Homo sapiens

characteristic: organism

text: Hispanic/Latino

characteristic: race

text: Female

text: GM17440 female unaffected Human variation panel - mexican-american community of los angeles panel of 8 sample


text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 8 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Tourette syndrome

characteristic: tag

text: ND27918 female affected Tourette syndrome sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 31 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: MEXICAN-AMERICAN

characteristic: ethnicity

text: Homo sapiens

text: Hispanic/Latino

text: Male

text: GM17441 male unaffected Human variation panel - mexican-american community of los angeles panel of 100 (version 2) sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: Tourette syndrome

text: 52 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND27919 male affected Tourette syndrome sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 33 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: MEXICAN-AMERICAN

text: 45;X 15 /46;XX 5

characteristic: karyotype

text: Homo sapiens

text: Hispanic/Latino

text: Female

text: GM17442 female unaffected Human variation panel - mexican-american community of los angeles panel of 8 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 7 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Tourette syndrome

text: ND27920 male affected Tourette syndrome sample


text: Coriell

text: live

text: Generic

text: 51 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: description

text: MEXICAN-AMERICAN

text: Homo sapiens

text: Hispanic/Latino

characteristic: race

text: Female

characteristic: sex

text: Snp500 panel

characteristic: tag

text: GM17443 female unaffected Snp500 panel sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 30 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND27921 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

characteristic: NCBI submission package

text: 53 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: MEXICAN-AMERICAN

characteristic: ethnicity

text: Homo sapiens

text: Hispanic/Latino

text: Female

text: GM17444 female unaffected Human variation panel - mexican-american community of los angeles panel of 100 (version 2) sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 45 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND27922 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 27 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Mexican-American;all four grandparents were born in Mexico

characteristic: description

text: MEXICAN-AMERICAN

text: Homo sapiens

characteristic: organism

text: Hispanic/Latino

characteristic: race

text: Female

text: Human variation panel - mexican-american community of los angeles panel of 16

text: GM17445 female unaffected Human variation panel - mexican-american community of los angeles panel of 100 (version 2) sample


text: Coriell

text: live

text: Generic

text: 59 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: parent

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

characteristic: tag

text: ND27927 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 23 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: MEXICAN-AMERICAN

text: Homo sapiens

text: Hispanic/Latino

text: Female

text: Human variation panel - mexican-american community of los angeles panel of 24

text: GM17446 female unaffected Human variation panel - mexican-american community of los angeles panel of 100 (version 2) sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Epilepsy

text: 19 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: sibling

text: Homo sapiens

text: More than one race

text: Female

text: Epilepsy

text: ND27928 female affected Epilepsy sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: 57 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: MEXICAN-AMERICAN

characteristic: ethnicity

text: Homo sapiens

text: Hispanic/Latino

text: Female

text: Snp500 panel

text: GM17448 female unaffected Human variation panel - mexican-american community of los angeles panel of 100 (version 2) sample


text: Coriell

text: live

text: Generic

text: 73 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: parent

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: ND27929 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 51 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: description

text: MEXICAN-AMERICAN

text: Homo sapiens

text: Hispanic/Latino

characteristic: race

text: Female

characteristic: sex

text: GM17449 female unaffected Human variation panel - mexican-american community of los angeles panel of 100 (version 2) sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Epilepsy

text: 24 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

characteristic: tag

text: ND27930 female affected Epilepsy 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: 38 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Mexican-American;three grandparents were born in Mexico

text: MEXICAN-AMERICAN

text: Homo sapiens

text: Hispanic/Latino

text: Female

text: GM17450 female unaffected Human variation panel - mexican-american community of los angeles panel of 100 (version 2) sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Epilepsy

text: 3 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy

text: ND27935 male affected Epilepsy sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 56 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: MEXICAN-AMERICAN

characteristic: ethnicity

text: Homo sapiens

text: Hispanic/Latino

text: Female

text: GM17451 female unaffected Human variation panel - mexican-american community of los angeles panel of 100 (version 2) sample


text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 40 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

characteristic: organism

text: More than one race

characteristic: race

text: Male

text: Tourette syndrome

text: ND27940 male affected Tourette syndrome sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 51 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: description

text: MEXICAN-AMERICAN

text: Homo sapiens

text: Hispanic/Latino

text: Male

characteristic: sex

text: GM17452 male unaffected Human variation panel - mexican-american community of los angeles panel of 100 (version 2) sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 55 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: sister

text: Homo sapiens

text: More than one race

text: Female

characteristic: tag

text: ND27942 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 47 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: MEXICAN-AMERICAN

text: Homo sapiens

text: Hispanic/Latino

text: Female

text: GM17453 female unaffected Human variation panel - mexican-american community of los angeles panel of 100 (version 2) sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Epilepsy

text: 4 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: sibling

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

text: ND27947 female affected Epilepsy sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 41 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: MEXICAN-AMERICAN

characteristic: ethnicity

text: Homo sapiens

text: Hispanic/Latino

text: Male

text: GM17454 male unaffected Human variation panel - mexican-american community of los angeles panel of 100 (version 2) sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Epilepsy

text: 6 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Epilepsy

text: ND27948 female affected Epilepsy sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 28 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Mexican-American;all four grandparents were born in Mexico

characteristic: description

text: MEXICAN-AMERICAN

text: Homo sapiens

text: Hispanic/Latino

text: Female

characteristic: sex

text: GM17456 female unaffected Human variation panel - mexican-american community of los angeles panel of 100 (version 2) sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Epilepsy

text: 2 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy

characteristic: tag

text: ND27949 male affected Epilepsy 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: 33 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: MEXICAN-AMERICAN

text: 45;X 15 /46XX 5

characteristic: karyotype

text: Homo sapiens

text: Hispanic/Latino

text: Female

text: GM17457 female unaffected Human variation panel - mexican-american community of los angeles panel of 100 (version 2) sample


text: Coriell

text: live

text: Generic

text: Epilepsy

text: 49 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy

text: ND27950 male affected Epilepsy sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 22 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: MEXICAN-AMERICAN

characteristic: ethnicity

text: Homo sapiens

characteristic: organism

text: Hispanic/Latino

characteristic: race

text: Male

text: GM17458 male unaffected Human variation panel - mexican-american community of los angeles panel of 100 (version 2) sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Epilepsy

text: 17 YR

text: B-Lymphocyte

text: NINDS Repository

text: White/Caucasian | Asian

characteristic: family id

text: proband

text: Homo sapiens

text: More than one race

text: Female

characteristic: sex

text: Epilepsy

text: ND27951 female affected Epilepsy sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 42 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: description

text: MEXICAN-AMERICAN

text: Homo sapiens

text: Hispanic/Latino

text: Male

text: Human variation panel - mexican-american community of los angeles panel of 16

characteristic: tag

text: Human variation panel - mexican-american community of los angeles panel of 24

text: GM17459 male unaffected Human variation panel - mexican-american community of los angeles panel of 100 (version 2) sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Epilepsy

text: 15 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

text: ND27952 female affected Epilepsy sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 28 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: MEXICAN-AMERICAN

text: Homo sapiens

text: Hispanic/Latino

text: Male

text: GM17460 male unaffected Human variation panel - mexican-american community of los angeles panel of 100 (version 2) sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 51 YR

text: B-Lymphocyte

text: NINDS Repository

text: parent

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: ND27953 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 32 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: MEXICAN-AMERICAN

characteristic: ethnicity

text: Homo sapiens

text: Hispanic/Latino

text: Male

characteristic: sex

text: GM17461 male unaffected Human variation panel - mexican-american community of los angeles panel of 100 (version 2) sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Tourette syndrome

text: 12 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND27961 male affected Tourette syndrome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 44 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: description

text: MEXICAN-AMERICAN

text: Homo sapiens

text: Hispanic/Latino

text: Male

characteristic: tag

text: GM17462 male unaffected Human variation panel - mexican-american community of los angeles panel of 100 (version 2) sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 36 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND27962 female 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: 22 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: MEXICAN-AMERICAN

text: Homo sapiens

text: Hispanic/Latino

text: Female

text: GM17463 female unaffected Human variation panel - mexican-american community of los angeles panel of 100 (version 2) sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 35 YR

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: ND27963 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

text: 23 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: MEXICAN-AMERICAN

characteristic: ethnicity

text: Homo sapiens

text: Hispanic/Latino

text: Female

characteristic: sex

text: GM17464 female unaffected Human variation panel - mexican-american community of los angeles panel of 100 (version 2) sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Tourette syndrome

text: 14 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

characteristic: tag

text: ND27964 male affected Tourette syndrome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 23 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Mexican-American;all four grandparents were born in Mexico

characteristic: description

text: MEXICAN-AMERICAN

text: Homo sapiens

text: Hispanic/Latino

text: Female

text: GM17465 female unaffected Human variation panel - mexican-american community of los angeles panel of 100 (version 2) sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 41 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND27965 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 38 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: MEXICAN-AMERICAN

text: Homo sapiens

text: Hispanic/Latino

text: Male

text: Human variation panel - mexican-american community of los angeles panel of 100 (version 2)

text: GM17466 male unaffected Human variation panel - mexican-american community of los angeles panel of 8 sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 39 YR

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: ND27966 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 40 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Mexican-American;three grandparents were born in Mexico

text: MEXICAN-AMERICAN

characteristic: ethnicity

text: Homo sapiens

text: Hispanic/Latino

text: Female

characteristic: sex

text: GM17467 female unaffected Human variation panel - mexican-american community of los angeles panel of 100 (version 2) sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 56 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: parent

text: Homo sapiens

text: Asian

text: Female

characteristic: tag

text: ND28003 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 39 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: description

text: MEXICAN-AMERICAN

text: Homo sapiens

text: Hispanic/Latino

text: Female

text: GM17468 female unaffected Human variation panel - mexican-american community of los angeles panel of 100 (version 2) sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 87 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: ND28008 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 9 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;developmental delay;hypotonia;no acute metabolic decompensation;consistently very elevated ethylmalonic acid levels in urine (>100);donor subject is homozygous for a C>T transition at nucleotide 319 of the ACADS gene 319C>T resulting in a substitution of cysteine for arginine at codon 107 Arg107Cys (R107C);exon counting and quantitative PCR have not been done to confirm homozygosity

text: ASHKENAZI

text: ACADS

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: ACYL-CoA DEHYDROGENASE, SHORT-CHAIN

text: ACADS

text: GM17470 male affected ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 62 YR

text: B-Lymphocyte

text: NINDS Repository

text: niece

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: ND28009 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 9 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;hypotonia;hypoglycemia;developmental delay;ethylmalonic aciduria;EMA elevated in urine;elevated butyryl and carnitine;deficient small-chain Acyl-CoA dehydrogenase by electron-transferring flavoprotein reduction assay;undetectable small-chain Acyl-CoA dehydrogenase activity in fibroblasts (undetectable represents <10% of control SCAD activity);donor subject is homozygous for a C>T transition at nucleotide 511 of the ACADS gene 511C>T resulting in a substitution of tryptophan for arginine at codon 147 Arg147Trp (R147W);exon counting and quantitative PCR have not been done to confirm homozygosity

text: ACADS

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: ACYL-CoA DEHYDROGENASE, SHORT-CHAIN

text: ACADS

text: GM17471 male affected ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 62 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: niece

text: Homo sapiens

text: Caucasian

text: Female

text: ND28010 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 13 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;benign heart murmur;reactive airway disease;recurrent migraine headaches usually accompanied by a visual aura;noninflammatory myopathy;severe leg and calf pain after infections and exertion;acute episode of severe muscle cramping;contractions and pain associated with elevated CPK levels in serum occurred at age 8 years;at the time of this acute episode the total carnitine was 22.5 (normal 33.9-69) and free carnitine was 18.7 (normal 30.2-56.8);recurrent rhabdomyolysis;light microscopy performed on muscle biopsy was normal;50% of normal carnitine palmitoyl transferase II activity;normal small-chain Acyl-CoA dehydrogenase activity in fibroblasts and muscle;fibroblast oxidation studies showed marked elevation of butylcarnitine;elevation of butyryl carnitine after MCT load consistent with a partial defect in short-chain acyl-Co-A dehydrogenase deficiency;ethylmalonic acid level was normal in urine;donor subject is a compound heterozygote: one allele has a G>A transition at nucleotide 625 of the ACADS gene 625G>A resulting in a substitution of serine for glycine at codon 185 Gly185Ser (G185S) and a second allele has a C>T transition at nucleotide 511 of the ACADS gene 511C>T resulting in a substitution of tryptophan for arginine at codon 147 Arg147Trp (R147W) .

characteristic: description

text: ACADS

text: Homo sapiens

text: Caucasian

text: Male

text: ACYL-CoA DEHYDROGENASE, SHORT-CHAIN

text: ACADS

text: GM17472 male affected ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Tourette syndrome

text: 9 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND28053 male affected Tourette syndrome sample


text: Coriell

text: live

text: Generic

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;mother had acute fatty liver of pregnancy;failure to thrive;mild developmental delay;mitochondrial extracts from muscle and fibroblasts were deficient of small-chain Acyl-CoA dehydrogenase activity;mild elevation of butyrylcarnitine by plasma acylcarnitine analysis;mild ethylmalonic aciduria (23 mmol/mol creatinine;control <18 mmol/mol) by urine organic acid analysis;molecular genetic analysis failed to identify the common 1528G>C mutation in the TFP gene;donor subject is homozygous for a G>A transition at nucleotide 625 of the ACADS gene 625G>A resulting in a substitution of serine for glycine at codon 185 Gly185Ser (G185S) .

text: ACADS

characteristic: gene

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: ACYL-CoA DEHYDROGENASE, SHORT-CHAIN

text: ACADS

text: GM17473 male affected ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 32 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND28054 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: ACYL-CoA DEHYDROGENASE FAMILY MEMBER 8

text: 2 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected with isolated deficiency of isobutyryl-Co-A dehydrogenase;parents are first cousins;birth weight 6 lbs and 2 ounces;birth length 20 inches;breast fed for first 6 weeks of life with no problems but developed feeding intolerance when placed on formula;at 11 months of age subject found to be anemic;have cardiomegaly;and was <5th percentile for growth;echocardiogram at 11 months diagnosed dilated cardiomyopathy and atrial septal defect;endomyocardial biopsy found no evidence of myocarditis;ischemia;or signs of storage;severe plasma carnitine deficiency noted at 12 months (total carnitine 6um;free carnitine 5 um;esterified carnitine 1 um);plasma acylcarnitine analysis during treatment with carnitine revealed markedly increased butyryl/isobutyrylcarnitine;responded well to carnitine therapy and by age 27 months subject had normal growth and development and no evidence of cardiac dysfunction;donor subject is homozygous for a G>A transition at nucleotide 905 in exon 8 of the ACAD8 gene 905G>A resulting in a substitution of glutamine for arginine at codon 302 Arg302Gln (R302Q) .

text: Homo sapiens

text: Hispanic/Latino

text: Female

text: ACYL-CoA DEHYDROGENASE FAMILY MEMBER 8

text: Isobutyryl-coa dehydrogenase deficiency

text: GM17476 female affected ACYL-CoA DEHYDROGENASE FAMILY MEMBER 8 sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 42 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND28056 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 3 WK

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;picked up via newborn screening;abnormal acylcarnitine profile in blood;cell line CRIM negative for SBCAD protein;donor subject is homozygous for an A>G transition at nucleotide 1165 of the ACADSB gene 1165A>G resulting in a substitution of valine for methionine at codon 356 in the mature SBCAD protein Met356Val (M356V) .

characteristic: description

text: HMONG

characteristic: ethnicity

text: ACADSB

text: Homo sapiens

text: Asian

text: Female

text: ACADSB

text: GM17477 female unaffected ACYL-CoA DEHYDROGENASE, SHORT/BRANCHED CHAIN sample


text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 15 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Tourette syndrome

text: ND28057 male affected Tourette syndrome sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Sardinian;clinically unaffected father of GM16787

text: SARDINIAN

text: in-law

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

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Ichthyosis type unknown

text: GM17479 male unaffected Ichthyosis type unknown sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Tourette syndrome

text: 10 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

characteristic: tag

text: ND28074 male affected Tourette syndrome sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 13 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;presented at 3 months of age with hypoglycemia;hyperammonemia;mild liver dysfunction and 3-hydroxydicarboxylic aciduria;diagnosed at age 13 with recurrent hypoglycemia;progressive myopathy;and peripheral neuropathy;plasma acylcarnitine profile characteristic of LCHAD deficiency and enzyme testing showed complete trifunctional protein deficiency patient #3 in Am J Hum Genet 58:979-988 (1996) - sex in this publication was incorrectly listed as male;donor subject is a compound heterozygote;one allele has a G>A transition at nucleotide 182 of the HADHB gene 182G>A resulting in a substitution of histidine for arginine at codon 61 Arg61His (R61H) and a second allele has a G>A transition at nucleotide 740 of the HADHB gene 740G>A resulting in a substitution of histidine for arginine at codon 247 Arg247His (R247H) .

text: HADHB

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: HADHB

text: Trifunctional protein deficiency

text: GM17482 female affected HYDROXYACYL-CoA DEHYDROGENASE/3-KETOACYL-CoA THIOLASE/ENOYL-CoA HYDRATASE, BETA SUBUNIT sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 36 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND28075 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Mucopolysaccharidosis type iiia

text: 7 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;abnormal heparin sulfamidase activity in fibroblasts (190 - normal control is 5200);hepatosplenomegaly;hearing loss;developmental delay;coarse facies;thick coarse hair;prominent lower lip;prominent metopic suture;synophrys;hirsuit

characteristic: description

text: ITALIAN/IRISH

characteristic: ethnicity

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Mucopolysaccharidosis type iiia

text: GM17491 female affected Mucopolysaccharidosis type iiia sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 38 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: ND28076 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

text: Sialic acid storage disease

text: 1 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;abnormal sialyloligosaccharides;profound developmental delay;high level of free sialic acid in urine (1502 nomles/mg creatinine with normal controls 318 + or - 277);hypotonia;appendicular ataxia and weakness

text: SWEDISH

text: Homo sapiens

text: Caucasian

text: Female

text: SIASD

text: Sialic acid storage disease

text: GM17493 female affected Sialic acid storage disease sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 37 YR

text: B-Lymphocyte

text: NINDS Repository

text: HAS HISPANIC BACKGROUND

text: mother

text: Homo sapiens

text: More than one race

text: Female

text: ND28077 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 71 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically normal;skin biopsy taken from the arm;white sclerae;edent dentition;elevated alkaline phosphatase;bone density score for hip (neck) indicates osteopenia;history of one bone fracture;see GM17502 Lymphoid.

text: AMISH

characteristic: family id

text: maternal aunt

text: Homo sapiens

text: Caucasian

text: Female

text: Osteogenesis imperfecta type iv

text: Apparently healthy non-fetal tissue

text: GM17501 female unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 10 YR

text: B-Lymphocyte

text: NINDS Repository

text: MOTHER HAS HISPANIC HERITAGE

characteristic: ethnicity

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Tourette syndrome

text: ND28078 male affected Tourette syndrome sample


text: Coriell

text: live

text: Generic

text: 71 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;white sclerae;edent dentition;elevated alkaline phosphatase;bone density score for hip (neck) indicates osteopenia;history of one bone fracture;see GM17501 Fibroblast.

characteristic: description

text: AMISH

text: maternal aunt

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Osteogenesis imperfecta type iv

text: Apparently healthy non-fetal tissue

text: GM17502 female unaffected Apparently healthy non-fetal tissue sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Tourette syndrome

text: 10 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND28106 male affected Tourette syndrome sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 72 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;skin biopsy taken from the arm;see GM17504 Lymphoid;white sclerae;edent dentition;osteoarthritis;history of heart mumur;kidney stones;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

characteristic: tag

text: Apparently healthy non-fetal tissue

text: GM17503 female unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 32 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND28107 female 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: 72 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;see GM17503 Fibroblast;white sclerae;edent dentition;osteoarthritis;history of heart mumur;kidney stones;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: Apparently healthy non-fetal tissue

text: GM17504 female unaffected Apparently healthy non-fetal tissue sample

characteristic: title


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 49 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Parkinson disease

text: ND28129 female affected Parkinson disease sample


text: Coriell

text: live

text: Generic

text: 15 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;blue sclerae;good dentition;bone density score is normal;skin biopsy taken from the arm;see GM17506 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: cousin

characteristic: gene

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Osteogenesis imperfecta type iv

text: Collagen type i alpha-2

text: GM17505 female affected OI4 sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Parkinson disease

text: 60 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Parkinson disease

text: ND28130 female affected Parkinson disease sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 15 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;blue sclerae;good dentition;bone density score is normal;see GM17505 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: cousin

text: Homo sapiens

text: Caucasian

text: Female

text: Osteogenesis imperfecta type iv

characteristic: tag

text: Collagen type i alpha-2

text: GM17506 female affected OI4 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Epilepsy

text: 14 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: sibling

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy

text: ND28158 male affected Epilepsy sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 16 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;white sclerae;good dentition;bone density score is normal;skin biopsy taken from the arm;see GM17508 Lymphoid

characteristic: description

text: AMISH

characteristic: ethnicity

characteristic: family id

text: cousin

text: Homo sapiens

text: Caucasian

text: Male

text: Osteogenesis imperfecta type iv

text: Apparently healthy non-fetal tissue

text: GM17507 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Epilepsy

text: 12 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Epilepsy

text: ND28159 male affected Epilepsy sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 16 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;white sclerae;good dentition;bone density score is normal;see GM17507 Fibroblast

text: AMISH

text: cousin

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Osteogenesis imperfecta type iv

text: Apparently healthy non-fetal tissue

text: GM17508 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Essential tremor-movement disorder

text: 43 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Homo sapiens

text: Caucasian

text: Male

text: Essential tremor-movement disorder

text: Parkinson disease

text: ND28170 male affected Essential tremor-movement disorder sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Breast cancer type 1

text: 42 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;diagnosed at age 41;paternal aunt diagnosed with breast and ovarian cancer in her fifties;donor subject carries a nucleotide deletion in a non-coding intervening sequence occurring within two nucleotides of the beginning of exon 3 (IVS2-2delA) in BRCA1;two variants were also identified: a BRCA1 variant G890R (GLY890ARG) which results in the substitution of arginine for glycine at amino acid position 890 of the BRCA1 protein and a BRCA2 variant VAL2739ILE (V2739I) which results in the substitution of isoleucine for valine at amino acid position 2739 of the BRCA2 protein.

text: FILIPINO

text: proband

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Filipino

text: Female

characteristic: tag

text: Breast cancer type 1

text: GM17509 female affected Breast cancer type 1 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Parkinson disease

text: 47 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinson disease

text: ND28171 male affected Parkinson disease sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 42 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;skin biopsy taken from left upper arm;father of a child with atypical Cockayne syndrome (GM17536 Fibroblast): 2 year old with severe microcephaly;developmental delay;brain calcifications;peripheral neuropathy;hyperactive reflexes;but no sun sensitivity;hearing loss;or cataracts;two other children died from similar disorder;proband not in Repository

characteristic: description

text: PAKISTANI

characteristic: ethnicity

characteristic: family id

text: father

text: Homo sapiens

characteristic: organism

text: East Indian

text: Male

text: GM17515 male unaffected Cockayne syndrome type a - 216400 or type iii - 216411 sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Epilepsy

text: 25 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Epilepsy

text: ND28181 female affected Epilepsy sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 39 YR

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;skin biopsy taken from left upper arm;mother of a child with atypical Cockayne syndrome (GM17536 Fibroblast): 2 year old with severe microcephaly;developmental delay;brain calcifications;peripheral neuropathy;hyperactive reflexes;but no sun sensitivity;hearing loss;or cataracts;two other children died from similar disorder;proband not in Repository

text: PAKISTANI

text: mother

text: Homo sapiens

text: East Indian

text: Female

text: GM17516 female unaffected Cockayne syndrome type a - 216400 or type iii - 216411 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 37 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: parent

text: Homo sapiens

text: More than one race

text: Male

characteristic: tag

text: ND28191 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 74 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;blue sclerae;edent dentition;mitral valve click;joint flexibility abnormal for hips;history of heart mumur;bone density score for spine and hip (neck) indicates osteoporosis;history of two fractures;see GM17518 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: sister

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Osteogenesis imperfecta type iv

text: Collagen type i alpha-2

text: GM17517 female affected OI4 sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 56 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: parent

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND28192 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: 74 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;blue sclerae;edent dentition;mitral valve click;joint flexibility abnormal for hips;history of heart mumur;bone density score for spine and hip (neck) indicates osteoporosis;history of two fractures;see GM17517 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: sister

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Osteogenesis imperfecta type iv

text: Collagen type i alpha-2

text: GM17518 female affected OI4 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Parkinson disease

text: 70 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Homo sapiens

text: Caucasian

text: Female

text: Parkinson disease

text: ND28196 female affected Parkinson disease sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 10 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;white sclerae;good dentition;bone density score for spine indicates osteoporosis and bone density score for hip (neck) indicates osteopenia;see GM17520 Lymphoid

characteristic: description

text: AMISH

text: cousin

text: Homo sapiens

text: Caucasian

text: Male

text: Osteogenesis imperfecta type iv

characteristic: tag

text: Collagen type i alpha-2

text: GM17519 male unaffected OI4 sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Parkinson disease

text: 66 YR

text: B-Lymphocyte

text: NINDS Repository

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Parkinson disease

text: ND28197 female affected Parkinson disease sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: 10 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;white sclerae;good dentition;bone density score for spine indicates osteoporosis and bone density score for hip (neck) indicates osteopenia;see GM17519 Fibroblast

text: AMISH

characteristic: family id

text: cousin

text: Homo sapiens

text: Caucasian

text: Male

text: Osteogenesis imperfecta type iv

text: Collagen type i alpha-2

text: GM17520 male unaffected OI4 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Parkinson disease

text: 58 YR

text: B-Lymphocyte

text: NINDS Repository

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Parkinson disease

text: ND28214 female affected Parkinson disease sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 12 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;blue sclerae;good dentition;history of hearing loss;alkaline phosphatase elevated;bone density score for spine indicates osteoporosis and bone density score for hip (neck) indicates osteopenia;see GM17522 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: cousin

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Osteogenesis imperfecta type iv

text: Collagen type i alpha-2

text: GM17521 female affected OI4 sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Parkinson disease

text: 58 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinson disease

characteristic: tag

text: ND28215 male affected Parkinson disease sample

characteristic: title


characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 12 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;blue sclerae;good dentition;history of hearing loss;alkaline phosphatase elevated;bone density score for spine indicates osteoporosis and bone density score for hip (neck) indicates osteopenia;see GM17521 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)

characteristic: description

text: AMISH

text: cousin

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Osteogenesis imperfecta type iv

text: Collagen type i alpha-2

text: GM17522 female affected OI4 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: 31 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: parent

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: ND28221 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: Lig4 syndrome

text: 10 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;skin biopsy taken from left forearm;microcephaly;developmental and mental delay;pancytopenia;multiple psoriasiform erythrodermatic skin patches;and atypical bone maturation;ligase IV deficient;donor subject is a compound heterozygote: one allele carries a G-to-A transition at nucleotide 1406 (1406G>A) of the LIG4 gene resulting in a gly469-to-glu substitution GLY469GLU (G469E);the other allele has a C-to-T transition at nucleotide 2440 (2440C>T);resulting in a nonsense codon at amino acid 814 ARG814TER (R814X) .

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Lig4 syndrome

text: Ligase iv, dna, atp-dependent

text: GM17523 female affected Lig4 syndrome sample


text: Coriell

text: live

text: Generic

text: 34 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: parent

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: ND28222 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 24 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;born with generalized erythema and collodion membrane;ectropion;alopecia;ear deformity;at age 7-8 skin developed a confetti-like appearance;at age 22 developed squamous cell carcinoma of the scalp;product of a non-consanguineous marriage

characteristic: description

text: Homo sapiens

text: Caucasian

text: Female

text: GM17527 female affected Ichthyosiform erythroderma, congenital, nonbullous, 1 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: Epilepsy

text: 10 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Epilepsy

text: ND28225 male affected Epilepsy sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 2 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: CS210BE;clinically affected;atypical;severe developmental delay;nonambulatory;no speech or smile;skin slightly red when outdoors;multiple lung infections;microcephaly;leukodystrophy;brain calcifications;no marked sun sensitivity;no decreased hearing;retinopathy;or cachexia;parents are second cousins

text: PAKISTANI

characteristic: ethnicity

characteristic: family id

text: proband

text: Homo sapiens

text: East Indian

characteristic: race

text: Male

characteristic: sex

text: GM17536 male affected Cockayne syndrome type a - 216400 or type iii - 216411 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Epilepsy

text: 27 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

text: ND28228 female affected Epilepsy sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: RTT

text: 7 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;seizures;nonambulatory;abnormal sleep patterns;chewing/biting/swallowing difficulties;constipation;growth retardation;irritability and agitation;loss of purposeful hand use;muscle rigidity/spasticity;nonverbal;poor circulation in legs and feet;repetitive hand motions;small feet;teeth grinding;tremors;period of normal development until 6-8 months;affected sister is GM17540;mother is GM17539;mother is clinically unaffected but carries same mutation as her two affected children;donor subject carries a missense mutation (C>G) at nucleotide 401 (401C>G) in the gene encoding methyl-CpG binding protein 2 (MECP2);resulting in a substitution of a cysteine for a serine at amino acid 134 SER134CYS (S134C) .

text: brother

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: RTT

text: Methyl-cpg-binding protein 2

text: Rett syndrome

text: GM17538 male affected RTT sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 42 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND28236 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 39 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;mother of two affected children (GM17538 and GM17540);donor subject carries a missense mutation (C>G) at nucleotide 401 (401C>G) in the gene encoding methyl-CpG binding protein 2 (MECP2);resulting in a substitution of a cysteine for a serine at amino acid 134 SER134CYS (S134C) .

characteristic: description

characteristic: family id

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: RTT

text: Methyl-cpg-binding protein 2

text: Rett syndrome

text: GM17539 female unaffected RTT sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 41 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: ND28237 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: RTT

text: 9 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;seizures;ambulatory;occasional irritability and agitation;loss of purposeful hand use;repetitive hand motions;period of normal development until 6-8 months;affected brother is GM17538;mother is GM17539;mother is clinically unaffected but carries same mutation as her two affected children;donor subject carries a missense mutation (C>G) at nucleotide 401 (401C>G) in the gene encoding methyl-CpG binding protein 2 (MECP2);resulting in a substitution of a cysteine for a serine at amino acid 134 SER134CYS (S134C) .

text: proband

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: RTT

text: Methyl-cpg-binding protein 2

text: Rett syndrome

text: GM17540 female affected RTT sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Epilepsy

text: 14 YR

text: B-Lymphocyte

text: NINDS Repository

text: sibling

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

text: ND28241 female affected Epilepsy sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

text: 14 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;at age 4 patient had recurrent pyogenic infections;IgG<50mg/dl;IgM<30mg/dl;IgA<20mg/dl;B lymphocytes express IgD and IgM;the cells synthesize small amounts of intracellular IgD;but there is no evidence of secretion;maternal uncle also has agammaglobulinemia;mother is GM17566;donor subject has T-to-C transition at nucleotide 1648 in exon 15 of the BTK gene (1648T>C) resulting in a substitution of arginine for cysteine at codon 506 in the middle of the kinase domain Cys506Arg (C506R)

characteristic: description

characteristic: family id

text: proband

text: BTK

text: Homo sapiens

text: Caucasian

text: Male

text: BTK

text: GM17547 male affected Bruton agammaglobulinemia tyrosine kinase sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Epilepsy

text: 20 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: sibling

text: Homo sapiens

characteristic: organism

text: Other

characteristic: race

text: Female

text: Epilepsy

text: ND28242 female affected Epilepsy sample


text: Coriell

text: live

text: Generic

text: Immunodeficiency with hyper-igm type 2

text: 14 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Line LAZ187;at age 7 patient had recurrent pyogenic infections;IgG<100mg/dl;IgM>50mg/dl (sometimes as high as 200);IgA<50mg/dl;the cells express surface IgM and IgD;but not IgG

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Immunodeficiency with hyper-igm type 2

text: GM17552 female affected Immunodeficiency with hyper-igm type 2 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Epilepsy

text: 16 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy

characteristic: tag

text: ND28243 male affected Epilepsy sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: Immunodeficiency with hyper-igm type 2

text: 14 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Line LAZ248;at age 7 patient had recurrent pyogenic infections;IgG<100mg/dl;IgM>50mg/dl (sometimes as high as 200);IgA<50mg/dl;the cells express surface IgM and IgD;but not IgG

text: Homo sapiens

text: Caucasian

text: Male

text: Immunodeficiency with hyper-igm type 2

text: GM17557 male affected Immunodeficiency with hyper-igm type 2 sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Epilepsy

text: 19 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy

text: ND28245 male affected Epilepsy sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Mother of an affected son (GM17547)

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: BTK

text: GM17566 female unaffected Bruton agammaglobulinemia tyrosine kinase sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 54 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Other

text: Female

text: Parkinson disease

text: ND28251 female affected Parkinson disease sample


text: Coriell

text: live

text: Generic

text: 29 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Father of an affected child (GM17571 Lymphoid);skin biopsy taken from the upper arm;Sickle Cell Trait by history;see GM17570 Lymphoid

characteristic: description

characteristic: family id

text: father

text: Homo sapiens

text: African American

text: Male

text: XPG

text: GM17569 male unaffected Xeroderma pigmentosum, complementation group g sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 56 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: parent

text: Homo sapiens

text: Caucasian

text: Male

text: ND28254 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 29 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Father of an affected child (GM17571);Sickle Cell Trait by history;see GM17569 Fibroblast

text: father

text: Homo sapiens

characteristic: organism

text: African American

text: Male

text: XPG

text: GM17570 male unaffected Xeroderma pigmentosum, complementation group g sample


text: Coriell

text: live

text: Generic

text: Epilepsy

text: 11 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: sibling

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Epilepsy

text: ND28256 male affected Epilepsy sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 8 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: XP218BE;clinically affected;sun sensitivity;freckling;dry skin;short stature (<3%ile);no skin cancer;mild photophobia

text: proband

text: Homo sapiens

text: African American

text: Male

characteristic: sex

text: XPG

text: GM17571 male affected Xeroderma pigmentosum, complementation group g sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Progressive supranuclear palsy

text: 71 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Progressive supranuclear palsy

characteristic: tag

text: ND28288 male affected Progressive supranuclear palsy sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 5 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal half-sister of GM17571

text: half-sister

text: Homo sapiens

text: African American

text: Female

text: XPG

text: GM17572 female unaffected Xeroderma pigmentosum, complementation group g sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 71 YR

text: B-Lymphocyte

text: NINDS Repository

text: unaffected spouse

text: Homo sapiens

text: Caucasian

text: Female

text: ND28289 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: 92 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected mother of an unaffected son (GM16483) and grandmother of an affected grandson (GM14861) and an affected granddaughter (GM16500). One allele carries a ATG-ACG transversion resulting in a substitution of threonine for methionine at codon 467 MET467THR (M467T) in the SLC3A1 gene.

text: paternal grandmother

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: CSNU

text: Cystinuria

text: Solute carrier family 3 member 1

text: GM17575 female unaffected SLC3A1 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Epilepsy

text: 22 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy

text: ND28296 male affected Epilepsy sample


text: Coriell

text: live

text: Generic

text: 28 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically normal;skin biopsy taken from the arm;white sclerae;good dentition;bone density score for spine and hip are normal;see GM17577 Lymphoid

characteristic: description

text: AMISH

characteristic: ethnicity

text: brother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Osteogenesis imperfecta type iv

text: Collagen type i alpha-2

text: GM17576 male unaffected OI4 sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Parkinson disease

text: 51 YR

text: B-Lymphocyte

text: NINDS Repository

text: same subject as ND32157

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Parkinson disease

characteristic: tag

text: ND28300 female affected Parkinson disease sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 28 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;white sclerae;good dentition;bone density score for spine and hip are normal;see GM17576 Fibroblast

text: AMISH

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Osteogenesis imperfecta type iv

text: Collagen type i alpha-2

text: GM17577 male unaffected OI4 sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 35 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: daughter

text: Homo sapiens

text: Other

text: Female

text: ND28301 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 28 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;skin biopsy taken from the arm;blue sclerae;good dentition;no bone density score reported;affected sister is GM17720;see GM17579 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: family id

text: niece

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Osteogenesis imperfecta type iv

text: Collagen type i alpha-2

text: GM17578 female affected OI4 sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Epilepsy

text: 41 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Epilepsy

text: ND28316 male affected Epilepsy sample


text: Coriell

text: live

text: Generic

text: 28 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;blue sclerare;good dentition;no bone density score reported;affected sister is GM17719;see GM17578 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)

characteristic: description

text: AMISH

characteristic: ethnicity

text: niece

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Osteogenesis imperfecta type iv

characteristic: tag

text: Collagen type i alpha-2

text: GM17579 female affected OI4 sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Epilepsy

text: 47 YR

text: B-Lymphocyte

text: NINDS Repository

text: sibling

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy

text: ND28317 male affected Epilepsy sample

characteristic: title


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: RTT

text: 7 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;also has triple X syndrome;normal growth parameters at birth;weak suck and poor weight gain in first few weeks of life;intestinal malrotation at 4 months;psychomotor development normal until 9 months when development slowed;walked at 16 months;head circumference and weight decreased at 6 months of age;regression of social skills evident at 20 months of age;bruxism;constipation and decreased sensitivity to pain developed at 21 months of age;significant delay in language development;no language and limited functional use of hands at age 6;MRI of cranium normal;EEG performed at 44 months showed intermittent occurence of epileptiform discharges;suggestive of partial seizures;supernumerary X chromosome is maternally derived;X-inactivation studies indicated preferential inactivation of the paternal allele;parental origin of MECP2 mutation could not be determined;donor subject has one allele that has a C>G transversion in the MBD coding region of the gene encoding methyl-CpG binding protein 2 (MECP2) resulting in a substitution of a valine for a leucine at codon 100 Leu100Val (L100V) .

text: Homo sapiens

text: Caucasian

text: Female

text: RTT

text: Methyl-cpg-binding protein 2

text: Rett syndrome

text: GM17583 female affected RTT sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 72 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND28341 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 67 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;mild kyphosis;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 three fractures;affected son is GM17588 and affected daughter is GM17596;see GM17587 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: father

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Osteogenesis imperfecta type iv

text: Collagen type i alpha-2

text: GM17586 male affected OI4 sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 40 YR

text: B-Lymphocyte

text: NINDS Repository

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND28342 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: 67 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;mild kyphosis;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 three fractures;affected son is GM17589 and affected daughter is GM17597;see GM17586 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: father

text: Homo sapiens

text: Caucasian

text: Male

text: Osteogenesis imperfecta type iv

text: Collagen type i alpha-2

text: GM17587 male affected OI4 sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Parkinson disease

text: 68 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Parkinson disease

text: ND28343 male affected Parkinson disease sample


text: Coriell

text: live

text: Generic

text: 42 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;white sclerae;fair dentition;bone density score for spine indicates osteoporosis;history of three fractures;affected father is GM17586;see GM17589 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: brother

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Osteogenesis imperfecta type iv

text: Collagen type i alpha-2

text: GM17588 male affected OI4 sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Parkinson disease

text: 60 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Parkinson disease

text: ND28349 male affected Parkinson disease sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 42 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;white sclerae;fair dentition;bone density score for spine indicates osteoporosis;history of three fractures;affected father is GM17587;see GM17588 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

text: Homo sapiens

text: Caucasian

text: Male

text: Osteogenesis imperfecta type iv

characteristic: tag

text: Collagen type i alpha-2

text: GM17589 male affected OI4 sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Parkinson disease

text: 55 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Parkinson disease

text: ND28360 female affected Parkinson disease sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 13 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;white sclerae;good dentition;alkaline phosphatase is elevated at 162;bone density score for spine indicates osteoporosis and bone density score for hip (neck) indicates osteopenia;history of one fracture;affected father (GM17588) and affected grandfather (GM17586);see GM17591 Lymphoid

characteristic: description

text: AMISH

characteristic: ethnicity

text: nephew

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Osteogenesis imperfecta type iv

text: Collagen type i alpha-2

text: GM17590 male unaffected OI4 sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 25 YR

text: B-Lymphocyte

text: NINDS Repository

text: daughter

text: Homo sapiens

text: Other

text: Female

characteristic: sex

text: ND28361 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 13 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;white sclerae;good dentition;alkaline phosphatase is elevated at 162;bone density score for spine indicates osteoporosis and bone density score for hip (neck) indicates osteopenia;history of one fracture;affected father (GM17589) and affected grandfather (GM17587);see GM17590 Fibroblast

text: AMISH

text: nephew

text: Homo sapiens

text: Caucasian

text: Male

text: Osteogenesis imperfecta type iv

text: Collagen type i alpha-2

text: GM17591 male unaffected OI4 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 44 YR

text: B-Lymphocyte

text: NINDS Repository

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND28362 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: 11 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically normal;white sclerae;good dentition;alkaline phosphatase is elevated;bone density score for spine indicates osteoporosis and bone density score for hip (neck) indicates osteopenia;affected father (GM17588) and affected grandfather (GM17586);see GM17593 Lymphoid

text: AMISH

text: niece

text: Homo sapiens

text: Caucasian

text: Female

text: Osteogenesis imperfecta type iv

text: Collagen type i alpha-2

text: GM17592 female unaffected OI4 sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 50 YR

text: B-Lymphocyte

text: NINDS Repository

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: ND28363 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample