text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 28 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically normal;spouse of GM10068 (46;XX) & father of a female with holoprosencephaly;see GM10064 Fibroblast

text: father

text: 46;XY;t(7;13)(7pter>7q34::13q12.2>13qter;13pter>13q12.2::7q34>7qter);46;XY;t(7;13)(7pter>7q34::13q12.3> 13qter;13pter>13q12.3::7q34>7qter)

text: Homo sapiens

text: Caucasian

text: Male

text: Translocated chromosome

text: GM10067 male unaffected Translocated chromosome sample


status: PUBLIC

characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 68 YR

tag: attribute

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: scottish;Irish

characteristic: ethnicity

characteristic: family id

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

characteristic: sex

characteristic: tag

text: ND20360 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 29 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Parent of a holoprosencephalic female with 7q+ (GM10064 Fibroblast);spouse of GM10067 Lymphoid {46;XY;t(7;13)};46;XX;4% of cells show random chromosome loss

characteristic: description

text: mother

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Apparently healthy non-fetal tissue

text: GM10068 female unaffected Apparently healthy non-fetal tissue sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Parkinson disease

text: 67 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: ND20363 male affected Parkinson disease sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 64 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;spouse of GM08275

text: in-law

text: Homo sapiens

text: Caucasian

text: Male

text: GM10069 male unaffected Maturity-onset diabetes of the young type i sample


text: Coriell

text: live

text: Generic

text: 40 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: ND20382 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 46 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected spouse of GM01240A

text: brother-in-law

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

characteristic: tag

text: GM10072 male unaffected Maturity-onset diabetes of the young type i sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 10 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND20383 male affected Tourette syndrome sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Phenotypically normal;has had 6 spontaneous abortions;see GM00073 Fibroblast;in fibroblasts;normal X is late replicating

characteristic: description

text: mother

text: 46;X;t(X;14)(Xpter>Xq13::14q32>14qter;14pter>14q32::Xq13>Xqter)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Translocated chromosome

text: GM10073 female unaffected Translocated chromosome sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Parkinson disease

text: 70 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Parkinson disease

text: ND20385 female affected Parkinson disease sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: See GM00074 Fibroblast;Klinefelter syndrome;trisomic for 14pter>14q32;in fibroblasts;der(14) is late replicating in 88% of cells

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Translocated chromosome

text: GM10074 male unaffected Translocated chromosome sample


text: Coriell

text: live

text: Generic

text: 68 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Population/convenience control

text: ND20388 male unaffected Population/convenience control sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 42 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;65% of RBC & 22% of normal peripheral blood lymphocyte ADA activity;1 son with partial ADA deficiency & 1 son with Nezelof's syndrome;proband not in Repository

text: parent

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

characteristic: tag

text: GM10078 female unaffected Adenosine deaminase deficiency with no immunodeficiency sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Parkinson disease

text: 69 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: PD

text: Parkinson disease

text: ND20390 female affected Parkinson disease sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 43 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;41% of RBC & 20% of normal peripheral blood lymphocyte ADA activity;1 son with partial ADA deficiency & 1 son with Nezelof syndrome;proband not in Repository

characteristic: description

text: parent

text: Homo sapiens

text: Caucasian

text: Male

text: GM10079 male unaffected Adenosine deaminase deficiency with no immunodeficiency sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 39 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND20403 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: PTEN

text: 15 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Macrocephaly;lipomas;and thyroid adenoma;mother (GM10081)is also affected;donor subject is heterozygous for a C>T transition at nucleotide 781 of the PTEN gene (c.781C>T)resulting in a stop codon at 261 Gln261Ter (Q261X)

text: proband

text: PTEN

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: CD

text: Cowden disease

text: Phosphatase and tensin homolog

text: PTEN

text: GM10080 male affected PTEN sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 46 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: ND20404 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: PTEN

text: 46 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Fertility problems;fibroid tumors;& a breast tumor;son (GM10080) is also affected;donor subject is heterozygous for a C>T transition at nucleotide 781 of the PTEN gene (c.781C>T)resulting in a stop codon at 261 Gln261Ter (Q261X)

text: mother

text: PTEN

text: Homo sapiens

text: Caucasian

text: Female

text: CD

characteristic: tag

text: Cowden disease

text: Phosphatase and tensin homolog

text: PTEN

text: GM10081 female affected PTEN sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 40 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND20405 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 27 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically unaffected;affected child showed short limbs & hypertelorism at 37 wks gest on ultrasound exam;child had norm plasma very long chain fatty acids & phytanic acid & deficient RBC plasmalogen levels;negative family history

characteristic: description

text: parent

text: Homo sapiens

text: Caucasian

text: Female

text: GM10082 female unaffected Rhizomelic chondrodysplasia punctata type 1 sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

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

text: ND20406 male affected Tourette syndrome sample


text: Coriell

text: live

text: Generic

text: 39 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son of GM10086A;normal glucose tolerance test;father is affected

text: paternal second cousin

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: GM10083 male unaffected Maturity-onset diabetes of the young type i sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 40 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: ND20407 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 58 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;normal glucose tolerance test;father;diagnosed at age 43;is affected;sister of GM10042;10045;10057;10086A;10165;10169;& 11456

text: paternal cousin

text: Homo sapiens

text: Caucasian

text: Female

text: GM10084 female unaffected Maturity-onset diabetes of the young type i sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 60 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Parkinson disease

characteristic: tag

text: ND20453 female affected Parkinson disease sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 36 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son of GM10086A;normal glucose tolerance test;father is affected;donor subject tested negative for the Q268X mutation of the HNF4A (TCF14) gene

text: paternal second cousin

text: Homo sapiens

text: Caucasian

text: Male

text: GM10085 male unaffected Maturity-onset diabetes of the young type i sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 72 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: ND20454 male unaffected Population/convenience control sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 65 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;father is also affected;diagnosed at age 57;father of GM10083A & 10085A;spouse of GM11458;brother of 10042;10045;10057;10084;10165;10169;& 11456

text: paternal cousin

text: Homo sapiens

text: Caucasian

text: Male

text: GM10086 male affected Maturity-onset diabetes of the young type i sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 85 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: PD

text: Parkinson disease

text: ND20457 female affected Parkinson disease sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 13 FW

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Anencephaly;mother;maternal grandmother;& maternal greatgrandmother have incontinentia pigmenti;46;XY;fetus is at risk for IP: mother is GM12225 Lymphoid & grandmother is GM12226 Lymphoid

characteristic: description

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Incontinentia pigmenti

text: IP

text: GM10112 male unaffected Incontinentia pigmenti sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 70 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: brother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: ND20458 male affected Parkinson disease sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 14 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Pectus excavatum;poor wound healing;hyperextensible joints;increased skin elasticity;frequent ear infections;congenital heart disease;developmental delay;mother has Crohn's disease & protein S deficiency;neg fam hist for E-D

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: GM10113 male affected Ehlers-danlos syndrome: type unclassified sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Parkinson disease

text: 55 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Parkinson disease

text: ND20496 female affected Parkinson disease sample


text: Coriell

text: live

text: Generic

text: 18 FW

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: 46;XY;t(2;4)(2qter>2p25::4p10>4pter;4qter>4p10::2p25>2pter).ish t(2;4)(VIJ2yRM2052-;D4S96+;D4S174+;D4Z1+;VIJ2yRM2052+;D4S96-;D4S174-;D4Z1+)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Translocated chromosome

characteristic: tag

text: GM10118 male unaffected Translocated chromosome sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 78 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND20497 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

characteristic: NCBI submission package

text: 36 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Impaired glucose tolerance test;son of GM10121B

text: paternal second cousin

text: Homo sapiens

text: Caucasian

text: Male

text: GM10119 male unaffected Maturity-onset diabetes of the young type i sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 57 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: ND20498 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 64 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Fasting hyperglycemia;affected father of GM08083;08283;08365;10117;10119A;10122;& 10123A;brother of GM08086;son of GM08362;diagnosed at age 59

characteristic: description

characteristic: family id

text: paternal cousin

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: GM10121 male affected Maturity-onset diabetes of the young type i sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 48 YR

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: ND20500 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 14 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son of GM10122;normal fasting plasma glucose

text: paternal third cousin

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: GM10124 male unaffected Maturity-onset diabetes of the young type i sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 49 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND20501 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Retinitis pigmentosa 1

text: 52 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;father & grandmother are affected;grandmother is sister of paternal grandfather of GM09002;mother is GM10532B;donor subject has a C>T transition at nucleotide 2029 in exon 4 of the RP1 gene 2029C>T resulting in a substitution of a stop codon for arginine at codon 677 Arg677Ter (R677X) .

text: paternal cousin

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Retinitis pigmentosa 1

text: GM10125 male affected Retinitis pigmentosa 1 sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Parkinson disease

text: 50 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: PD

text: Parkinson disease

text: ND20511 female affected Parkinson disease sample


text: Coriell

text: live

text: Generic

text: Retinitis pigmentosa 1

text: 51 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;stepson of GM09755;father & 2 half-brothers are affected;1 affected half-brother is spouse of GM09002;donor subject has a C>T transition at nucleotide 2029 in exon 4 of the RP1 gene 2029C>T resulting in a substitution of a stop codon for arginine at codon 677 Arg677Ter (R677X) .

characteristic: description

characteristic: family id

text: paternal cousin

text: Homo sapiens

text: Caucasian

text: Male

text: Retinitis pigmentosa 1

text: GM10126 male affected Retinitis pigmentosa 1 sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Progressive supranuclear palsy

text: 60 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Progressive supranuclear palsy

text: ND20517 female affected Progressive supranuclear palsy sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Retinitis pigmentosa 1

text: 63 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;father & paternal grandfather were affected;spouse is GM10143B;daughter of GM10149;sister of GM08947;10148;10141;10142;10128;10131;10130;10134;& 10137A;son is GM10136;donor subject has a C>T transition at nucleotide 2029 in exon 4 of the RP1 gene 2029C>T resulting in a substitution of a stop codon for arginine at codon 677 Arg677Ter (R677X) .

text: paternal cousin

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

characteristic: tag

text: Retinitis pigmentosa 1

text: GM10127 female affected Retinitis pigmentosa 1 sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 64 YR

text: B-Lymphocyte

text: NINDS Repository

text: husband

text: Homo sapiens

text: Caucasian

text: Male

text: Control

text: Population/convenience control

text: ND20518 male unaffected Control sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

text: 49 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: At risk;father & paternal grandfather were affected;daughter of GM10149;sister of GM08947;10148;10141;10142;10127A;10131;10130;10134;& 10137A;last examined in 1989;donor subject does not carry the Arg677Ter (R677X) mutation in the RP1 gene.

text: paternal cousin

text: Homo sapiens

text: Caucasian

text: Female

text: Retinitis pigmentosa 1

text: GM10128 female unaffected Retinitis pigmentosa 1 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Parkinson disease

text: 55 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: same subject as ND32697

text: Ash Jewish

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: ND20520 male affected Parkinson disease sample


text: Coriell

text: live

text: Generic

text: 69 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically unaffected;father of GM10133;donor subject does not carry the Arg677Ter (R677X) mutation in the RP1 gene.

characteristic: description

text: in-law

text: Homo sapiens

text: Caucasian

text: Male

text: Retinitis pigmentosa 1

text: GM10129 male unaffected Retinitis pigmentosa 1 sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 53 YR

text: B-Lymphocyte

text: NINDS Repository

text: Ash Jewish

characteristic: family id

text: unaffected spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Control

text: Population/convenience control

text: ND20521 female unaffected Control sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Retinitis pigmentosa 1

text: 59 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;father & paternal grandfather were affected;daughter of GM10149;sister of GM08947;10148;10141;10142;10127A;10128;10131;10134;& 10137A;mother of GM10531 & GM10535;donor subject has a C>T transition at nucleotide 2029 in exon 4 of the RP1 gene 2029C>T resulting in a substitution of a stop codon for arginine at codon 677 Arg677Ter (R677X) .

text: paternal cousin

characteristic: gene

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Retinitis pigmentosa 1

text: GM10130 female affected Retinitis pigmentosa 1 sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Tourette syndrome

text: 11 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Tourette syndrome

characteristic: tag

text: ND20534 male affected Tourette syndrome sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 45 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: At risk;father & paternal grandfather were affected;son of GM10149;brother of GM08947;10148;10141;10142;10127A;10128;10130;10134;& 10137A;last examined in 1989;donor subject does not carry the Arg677Ter (R677X) mutation in the RP1 gene.

text: paternal cousin

text: Homo sapiens

text: Caucasian

text: Male

text: Retinitis pigmentosa 1

text: GM10131 male unaffected Retinitis pigmentosa 1 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 44 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND20535 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: Retinitis pigmentosa 1

text: 55 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;deceased father was affected;affected brother is GM10135;questionably affected sister is GM10524;donor subject has a C>T transition at nucleotide 2029 in exon 4 of the RP1 gene 2029C>T resulting in a substitution of a stop codon for arginine at codon 677 Arg677Ter (R677X) .

characteristic: description

characteristic: family id

text: paternal cousin

text: Homo sapiens

text: Caucasian

text: Female

text: Retinitis pigmentosa 1

text: GM10132 female affected Retinitis pigmentosa 1 sample


text: Coriell

text: live

text: Generic

text: 43 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: ND20536 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Retinitis pigmentosa 1

text: 39 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;deceased mother was affected;spouse of GM10527A;daughter is GM10534A;father is GM10129D;donor subject has a C>T transition at nucleotide 2029 in exon 4 of the RP1 gene 2029C>T resulting in a substitution of a stop codon for arginine at codon 677 Arg677Ter (R677X) .

text: paternal cousin

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Retinitis pigmentosa 1

text: GM10133 female affected Retinitis pigmentosa 1 sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 17 YR

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

characteristic: tag

text: ND20537 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 40 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: At risk;father & paternal grandfather were affected;son of GM10149;brother of GM08947;10148;10141;10142;10127A;10128;10131;10130;& 10137A;last examined in 1989;donor subject does not carry the Arg677Ter (R677X) mutation in the RP1 gene.

text: paternal cousin

text: Homo sapiens

text: Caucasian

text: Male

text: Retinitis pigmentosa 1

text: GM10134 male unaffected Retinitis pigmentosa 1 sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: 16 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: ND20538 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: Retinitis pigmentosa 1

text: 50 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;deceased father was affected;affected son is GM10138;questionably affected daughter is GM10519;affected sister is GM10132B;questionably affected sister is GM10524;spouse is GM10523;donor subject has a C>T transition at nucleotide 2029 in exon 4 of the RP1 gene 2029C>T resulting in a substitution of a stop codon for arginine at codon 677 Arg677Ter (R677X) .

characteristic: description

characteristic: family id

text: paternal cousin

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Retinitis pigmentosa 1

text: GM10135 male affected Retinitis pigmentosa 1 sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 41 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: At risk;affected mother is GM10127A;father is GM10143B;last examined in 1988;donor subject does not carry the Arg677Ter (R677X) mutation in the RP1 gene.

text: paternal cousin

text: Homo sapiens

text: Caucasian

text: Male

text: Retinitis pigmentosa 1

text: GM10136 male unaffected Retinitis pigmentosa 1 sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 13 YR

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: ND20539 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 52 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: At risk;father & paternal grandfather were affected;son of GM10149;brother of GM08947;10148;10141;10142;10127A;10128;10131;10130;& 10134;last examined in 1989;donor subject does not carry the Arg677Ter (R677X) mutation in the RP1 gene.

text: paternal cousin

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: Retinitis pigmentosa 1

text: GM10137 male unaffected Retinitis pigmentosa 1 sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 39 YR

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND20540 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Retinitis pigmentosa 1

text: 28 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;affected father is GM10135;mother is GM10523;questionably affected sister is GM10519;donor subject has a C>T transition at nucleotide 2029 in exon 4 of the RP1 gene 2029C>T resulting in a substitution of a stop codon for arginine at codon 677 Arg677Ter (R677X) .

text: paternal cousin

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Retinitis pigmentosa 1

text: GM10138 male affected Retinitis pigmentosa 1 sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: Retinitis pigmentosa 1

text: 41 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;affected father is GM08971;mother is GM08991B;brother is GM08957;donor subject has a C>T transition at nucleotide 2029 in exon 4 of the RP1 gene 2029C>T resulting in a substitution of a stop codon for arginine at codon 677 Arg677Ter (R677X) .

text: paternal cousin

text: Homo sapiens

text: Caucasian

text: Male

text: Retinitis pigmentosa 1

text: GM10139 male affected Retinitis pigmentosa 1 sample


text: Coriell

text: live

text: Generic

text: 38 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: ND20541 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: 75 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected spouse of GM08982;affected daughter is GM09000A;unaffected daughter is GM08987;donor subject does not carry the Arg677Ter (R677X) mutation in the RP1 gene.

characteristic: description

text: in-law

text: Homo sapiens

text: Caucasian

text: Female

text: Retinitis pigmentosa 1

text: GM10140 female unaffected Retinitis pigmentosa 1 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Retinitis pigmentosa 1

text: 61 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;father & paternal grandfather were affected;daughter of GM10149;sister of GM08947;10148;10142;10127A;10128;10131;10130;10134;& 10137A;mother of GM10537 & 10525;donor subject has a C>T transition at nucleotide 2029 in exon 4 of the RP1 gene 2029C>T resulting in a substitution of a stop codon for arginine at codon 677 Arg677Ter (R677X) .

text: paternal cousin

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

characteristic: tag

text: Retinitis pigmentosa 1

text: GM10141 female affected Retinitis pigmentosa 1 sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Tourette syndrome

text: 11 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND20542 male affected Tourette syndrome sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: 51 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: At risk;asymptomatic;father & paternal grandfather were affected;daughter of GM10149;sister of GM08947;10148;10141;10127A;10128;10131;10130;10134;& 10137A;last examined in 1989;donor subject has a C>T transition at nucleotide 2029 in exon 4 of the RP1 gene 2029C>T resulting in a substitution of a stop codon for arginine at codon 677 Arg677Ter (R677X) .

text: paternal cousin

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Retinitis pigmentosa 1

text: GM10142 female unaffected Retinitis pigmentosa 1 sample


text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 7 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: sister

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Tourette syndrome

text: ND20543 female affected Tourette syndrome sample


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: 91 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;affected spouse is GM10127A;father of GM10136;last examined in 1989;donor subject does not carry the Arg677Ter (R677X) mutation in the RP1 gene.

text: in-law

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Retinitis pigmentosa 1

text: GM10143 male unaffected Retinitis pigmentosa 1 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 52 YR

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Tourette syndrome

characteristic: tag

text: ND20544 male affected Tourette syndrome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 45 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected spouse of GM09754;children are GM10145;09784;& 09767;donor subject does not carry the Arg677Ter (R677X) mutation in the RP1 gene.

characteristic: description

text: in-law

text: Homo sapiens

text: Caucasian

text: Female

text: Retinitis pigmentosa 1

text: GM10144 female unaffected Retinitis pigmentosa 1 sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: Tourette syndrome

text: 15 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND20545 male affected Tourette syndrome sample


text: Coriell

text: live

text: Generic

text: 14 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: At risk;father is GM09754;mother is GM10144;sister of GM09784 & 09767;paternal grandfather was affected;donor subject does not carry the Arg677Ter (R677X) mutation in the RP1 gene.

text: paternal cousin

text: Homo sapiens

text: Caucasian

text: Female

text: Retinitis pigmentosa 1

text: GM10145 female unaffected Retinitis pigmentosa 1 sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 62 YR

text: B-Lymphocyte

text: NINDS Repository

text: ND20546(For catalog)=ND29703(Out:Not Rejected). WM 6/14/10

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Parkinson disease

text: ND20546 male affected Parkinson disease sample


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: Retinitis pigmentosa 1

text: 64 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;paternal half-brother of GM09002;donor subject has a C>T transition at nucleotide 2029 in exon 4 of the RP1 gene 2029C>T resulting in a substitution of a stop codon for arginine at codon 677 Arg677Ter (R677X) .

text: half-brother

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Retinitis pigmentosa 1

text: GM10146 male affected Retinitis pigmentosa 1 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Multiple system atrophy

text: 59 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: African American

characteristic: race

text: Female

characteristic: sex

text: Multiple system atrophy

text: ND20548 female affected Multiple system atrophy sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 50 YR

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: ND20549 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: 7 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;possible affected homozygote;affected parents are GM09002 & 08962;affected sibs are GM08979;09757;& 09763;affected brother is GM09761;donor subject is homozygous for a C>T transition at nucleotide 2029 in exon 4 of the RP1 gene 2029C>T resulting in a substitution of a stop codon for arginine at codon 677 Arg677Ter (R677X) .

characteristic: description

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Retinitis pigmentosa 1 gene

text: Retinitis pigmentosa 1

text: GM10147 male affected RP1 sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 42 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

characteristic: family id

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND20550 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: Parkinson disease

text: 66 YR

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: ND20552 male affected Parkinson disease sample


text: Coriell

text: live

text: Generic

text: 47 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: At risk;father & paternal grandfather were affected;daughter of GM10149;sister of GM08947;10141;10142;10127A;10128;10131;10130;10134;& 10137A;last examined in 1989;donor subject does not carry the Arg677Ter (R677X) mutation in the RP1 gene.

text: paternal cousin

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Retinitis pigmentosa 1

text: GM10148 female unaffected Retinitis pigmentosa 1 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 22 YR

text: B-Lymphocyte

text: NINDS Repository

text: son

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: ND20553 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: 20 YR

text: B-Lymphocyte

text: NINDS Repository

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: ND20554 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 57 YR

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: ND20555 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 84 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;deceased spouse was affected;mother of GM08947;10148;10141;10142;10127A;10128;10131;10130;10134;& 10137A;last examined in 1989;donor subject does not carry the Arg677Ter (R677X) mutation in the RP1 gene.

characteristic: description

text: in-law

text: Homo sapiens

text: Caucasian

text: Female

text: Retinitis pigmentosa 1

text: GM10149 female unaffected Retinitis pigmentosa 1 sample


text: Coriell

text: live

text: Generic

text: 52 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: ND20556 male 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: NINDS Repository

characteristic: family id

text: son

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: ND20557 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 65 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Mother of GM10151;10155B;11577;11578C;& 11611A;normal glucose tolerance test;spouse & 4 children are affected;affected spouse;diagnosed at age 32;is brother of GM10042

text: in-law

text: Homo sapiens

text: Caucasian

text: Female

text: GM10152 female unaffected Maturity-onset diabetes of the young type i sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 60 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: ND20558 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 34 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: MODY;daughter of GM10152;mother of GM10154 & 10153;father is also affected;diagnosed at age 24

text: second cousin

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: GM10155 female affected Maturity-onset diabetes of the young type i sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 21 YR

text: B-Lymphocyte

text: NINDS Repository

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: ND20559 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 45 YR

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: ND20560 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 35 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: See GM10159 Lymphoid;blisters present since birth;dysphagia with solid foods;webbing of esophagus released by surgery;a brother is also affected but condition is milder;probably recessive dystrophic type

text: GERMAN/IRISH

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: GM10158 male affected Epidermolysis bullosa: dystrophic junctional or simplex types sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 45 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: ND20561 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 35 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: See GM10158 Fibroblast;blisters present since birth;dysphagia with solid foods;webbing of esophagus released by surgery;a brother is also affected but condition is milder;probably recessive dystrophic type

characteristic: description

text: GERMAN/IRISH

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: GM10159 male affected Epidermolysis bullosa: dystrophic junctional or simplex types sample


characteristic: External Id

text: Coriell

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: ND20564 male affected Epilepsy sample


characteristic: DNA id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 10 MO

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Korean/Caucasian;7q- syndrome and a seizure disorder;height;weight;and head circumference below the 5th %ile;developmental delay;hypotonia;congenital heart disease

text: 46;XY;del(7)(pter->q11.23::q22.1->qter).ish del(7)(ELN-;LIMK-;D7S486+;D7S522+);46;XY;del(7)(pter>q11.23::q22.1>qter)

characteristic: karyotype

text: Homo sapiens

text: Other

characteristic: race

text: Male

text: Chromosome deletion

text: GM10160 male unaffected Chromosome deletion sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Parkinson disease

text: 60 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: PD

characteristic: tag

text: Parkinson disease

text: ND20565 female affected Parkinson disease sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 33 YR

characteristic: age

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Blisters since birth;pruritic blisters & papules on legs & ankles;absent nails;history of dermagraphism;mother;sis;& a dau had blisters at birth but conditions improved steadily with age;probably junctional type

text: SCOTTISH/FRENCH

characteristic: ethnicity

text: Homo sapiens

text: Caucasian

text: Male

text: GM10161 male affected Epidermolysis bullosa: dystrophic junctional or simplex types sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Parkinson disease

text: 65 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Ash Jewish

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: ND20570 male affected Parkinson disease sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 63 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Normal glucose tolerance test;daughter of GM08363;father;diagnosed at age 52;is affected

characteristic: description

text: paternal cousin

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: GM10162 female unaffected Maturity-onset diabetes of the young type i sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: 58 YR

text: B-Lymphocyte

text: NINDS Repository

text: Ash Jewish

text: unaffected spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Control

text: Population/convenience control

text: ND20571 female unaffected Control sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 56 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected sister of GM08086;normal glucose tolerance test;spouse of GM10171;daughter of GM08362

text: paternal cousin

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

characteristic: tag

text: GM10168 female unaffected Maturity-onset diabetes of the young type i sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Parkinson disease

text: 73 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Ash Jewish

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: ND20572 male affected Parkinson disease sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 66 YR

text: B-Lymphocyte

text: NINDS Repository

text: Ash Jewish

characteristic: ethnicity

text: unaffected spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Control

text: Population/convenience control

text: ND20573 female unaffected Control sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 51 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Normal glucose tolerance test;brother of GM08086;son of GM08362

characteristic: family id

text: paternal cousin

text: Homo sapiens

text: Caucasian

text: Male

text: GM10170 male unaffected Maturity-onset diabetes of the young type i sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Tourette syndrome

text: 12 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND20576 male affected Tourette syndrome sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 11 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Short stature

characteristic: description

text: 46;XY;r(15)(::p12>q26.3::);46;XY;r(15)(::p12>q26.3::) 42 /45;XY;-15 6 /47;XY;+9;r(15)(::p12>q26.3::) 2

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Ring chromosome

text: GM10173 male unaffected Copy number variation (cnv) refernece panel 02 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Parkinson disease

text: 69 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: PD

characteristic: tag

text: Parkinson disease

text: ND20579 male affected Parkinson disease sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 1 MO

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Partial trisomy 3q;hirsute;systolic heart murmur;deep-set;upslanting eyes;prominent nose with a broad tip & anteverted nares;long;flat philtrum;prominent upper lip;mild micrognathia;bilateral;single palmar creases

text: GUYANAN/ENGLISH

characteristic: ethnicity

text: proband

text: 46;XY;der(4)(4pter->4q35::3q25->3qter)pat;9qh+.arr 3q25.32 q29(158989231-199380402)x3;4q35.2(188748796-191254119)x1;46;XY;der(4)(4pter>4q35:: 3q25>3qter)pat;9qh+

text: Homo sapiens

text: Other

text: Male

text: Translocated chromosome

text: GM10175 male unaffected Copy number variation (cnv) refernece panel 02 sample


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: 69 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: unaffected spouse

text: Homo sapiens

text: Caucasian

text: Female

text: ND20580 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: Parkinson disease

text: 75 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: ND20583 male affected Parkinson disease sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 25 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Bright;normal development;& nondysmorphic;2 sibs died in their first year of life of unknown cause

characteristic: description

text: GUYANAN

text: father

text: 46;XY;t(3;4)(3pter>3q25::4q35>4qter;4pter>4q35::3q25>3qter);9qh+

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Other

text: Male

text: Translocated chromosome

text: GM10176 male unaffected Translocated chromosome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 74 YR

text: B-Lymphocyte

text: NINDS Repository

text: unaffected spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Control

characteristic: tag

text: Population/convenience control

text: ND20584 female unaffected Control sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 18 FW

characteristic: age

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Fetal skin fibroblast culture

text: proband

text: 46;X;t(X;7)(Xpter>Xq28::7p11> 7pter;7qter>7p11::Xq28>Xqter)

text: Homo sapiens

text: Caucasian

text: Female

text: Translocated chromosome

text: GM10177 female unaffected Translocated chromosome sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 18 FW

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Fetal fibroblast culture;45;X;Turner syndrome

text: Homo sapiens

text: Black

text: Female

text: Turner syndrome

text: GM10179 female unaffected Aneuploid chromosome number - non-trisomic sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Tourette syndrome

text: 17 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND20592 male affected Tourette syndrome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 55 YR

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND20593 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 7 DA

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Walker-Warburg syndrome;ventriculomegaly with lissencephaly;occipital bony defect with extrusion of CNS;microcornia;microphthalmia;cataract;46;XY in cultured amniotic fluid cells and PBL;elevated serum CK level

characteristic: description

text: ASHKENAZI

characteristic: ethnicity

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Mddga1 (walker-warburg syndrome included)

text: GM10180 male affected Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type a, 1 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 54 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: ND20594 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: 31 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;1 affected son

text: ASHKENAZI

text: mother

characteristic: gene

text: ARG296CYS AND SER486THR

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: GM10181 female unaffected Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type a, 1 sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: Tourette syndrome

text: 14 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND20605 male affected Tourette syndrome sample

characteristic: title


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 35 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;1 affected son

characteristic: description

text: ASHKENAZI

characteristic: ethnicity

characteristic: family id

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: GM10182 male unaffected Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type a, 1 sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: 52 YR

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: ND20606 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: 6 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Moderate mental retardation;autism;communication disorder;episodic irritability;hypotonia which resolved at age 2;no feeding problems;mild facial dysmorphism including low set ears and bilateral epicanthal folds

text: 47;XX;+idic(15)(pter>q13::q13>pter);47;XX;+idic(15)(pter>q13::q13>pter).ish idic(15)(D15Z1++;D15S11++;GABRB3++)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Isodicentric chromosome

characteristic: tag

text: GM10183 female unaffected Isodicentric chromosome sample


text: Coriell

text: live

text: Generic

text: 57 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: ND20607 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Chromosome deletion

text: 5 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: 46;XY;del(15)(q11.2q13);hypotonia;poor suck reflex at birth;failure to thrive followed by hyperphagia;developmental delay;short stature;small hands and feet;hypogonadism;small penis;cryptorchidism;almond shaped eyes;behavior problems and mental retardation

characteristic: description

text: 46;XY;del(15)(pter>q11.2::q13>qter);46;XY;del(15)(pter>q11.2::q13>qter).ish del(15)(SNRPN-;154P1+)

text: Homo sapiens

text: Caucasian

text: Male

text: Chromosome deletion

text: PWS

text: Prader-willi syndrome

text: GM10184 male affected Chromosome deletion sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 32 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND20608 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: 40 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Normal glucose tolerance test;daughter of GM08091A & 10060

text: paternal second cousin

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: GM10185 female unaffected Maturity-onset diabetes of the young type i sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: 1 DA

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Respiratory distress;dysmorphic facies;large left diaphragmatic hernia;multiple cardiac anomalies including ASD and VSD;absent right kidney and right adrenal gland;bilateral undescended testes

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Aneuploid chromosome number - trisomy

text: Aneuploid chromosome number - trisomy 9

text: GM10186 male unaffected Aneuploid chromosome number - trisomy sample


text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 9 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

characteristic: tag

text: ND20609 male affected Tourette syndrome sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 11 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Acadian;clinically unaffected son of GM10198

characteristic: description

text: ACADIAN

characteristic: ethnicity

text: paternal first cousin

text: Homo sapiens

text: Caucasian

text: Male

text: Usher syndrome type ia

text: GM10197 male unaffected Usher syndrome type ia sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Usher syndrome type ia

text: 48 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Acadian;clinically affected;a niece and a nephew are also affected;sister of GM10302

text: ACADIAN

characteristic: family id

text: paternal aunt

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Usher syndrome type ia

text: GM10198 female affected Usher syndrome type ia sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: 30 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: ND20610 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: Metachromatic leukodystrophy

text: 11 YR

characteristic: age

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Later onset than juvenile form;deficient arylsulfatase A;hand tremors;joint pains;clumsiness;enuresis;both parents have arylsulfatase A activities in the carrier range

text: Homo sapiens

text: Caucasian

text: Female

text: Metachromatic leukodystrophy

text: GM10199 female affected Metachromatic leukodystrophy sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 31 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: 46;X;der(X)(Xqter>Xp11.2::2q32.1> 2qter).ish der(X)(DXZ1+;wcp2+)

characteristic: karyotype

text: Homo sapiens

text: Black

text: Female

text: Translocated chromosome

characteristic: tag

text: GM10204 female unaffected Translocated chromosome sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Tourette syndrome

text: 22 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND20611 male affected Tourette syndrome sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 41 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son with the same balanced translocation is GM04613 Fibroblast

characteristic: description

characteristic: family id

text: mother

text: 46;XX;t(2;11)(2qter>2p11.2::11p13> 11pter;11qter>11p13::2p11.2>2pter)

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Translocated chromosome

text: GM10206 female unaffected Translocated chromosome sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: 53 YR

text: B-Lymphocyte

text: NINDS Repository

text: Indian American

characteristic: ethnicity

text: father

text: Homo sapiens

text: Other

characteristic: race

text: Male

text: ND20612 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: Orofacial cleft 1 ofc1

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Bilateral cleft lip without cleft palate;46;XY;t(10;14)(p13;q24.3);balanced;history of recurrent miscarriages;son with the same balanced translocation has a ventricular septal defect

text: GERMAN

text: 46;XY;t(10;14)(10qter>10p13::14q24.3> 14qter;14pter>14q24.3::10p13>10pter)

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Orofacial cleft 1 ofc1

text: Translocated chromosome

text: GM10207 male affected Orofacial cleft 1 ofc1 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 53 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: INDIAN AMERICAN

text: mother

text: Homo sapiens

text: Other

text: Female

characteristic: tag

text: ND20613 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: 33 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: MODY;son of GM01246A & GM07973;father & sister have MODY;another sister has IDDM;donor subject has a missense polymorphism of the HNF4A (TCF14) gene: a C>T transition at nucleotide 609 in exon 4 (609C>T) resulting in a threonine to isoleucine change at codon 130 Thr130Ile (T130I)

text: nephew

text: Homo sapiens

text: Caucasian

text: Male

text: GM10211 male affected Maturity-onset diabetes of the young type i sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Tourette syndrome

text: 24 YR

text: B-Lymphocyte

text: NINDS Repository

text: Indian American

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Other

text: Male

text: Tourette syndrome

text: ND20614 male affected Tourette syndrome sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: 36 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Normal glucose tolerance test;daughter of GM08278

characteristic: description

text: paternal second cousin

text: Homo sapiens

text: Caucasian

text: Female

text: GM10222 female unaffected Maturity-onset diabetes of the young type i sample


text: Coriell

text: live

text: Generic

text: 35 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Normal glucose tolerance test;affected mother is GM08278

text: paternal second cousin

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: GM10223 female unaffected Maturity-onset diabetes of the young type i sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 47 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: ND20618 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: Thanatophoric dysplasia

text: 3 DA

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Neonatal lethal dwarfism with classical X ray findings;hypoplastic lungs;short ribs;shortened and bowed extremities;short;stubby metacarpals;metatarsals and phalanges;typical bone dysplasia facies;negative family history

text: Homo sapiens

text: Caucasian

text: Female

text: TD

characteristic: tag

text: Thanatophoric dysplasia

text: GM10224 female affected Thanatophoric dysplasia sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 12 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Bullous disorder since birth exacerbated by trauma with scar formation;flexion contractures;loss of fingernails & toenails;milia formation on trunk & extremities;dysphagia;probably recessive;dystrophic type;affected sister

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: GM10233 male affected Epidermolysis bullosa: dystrophic junctional or simplex types sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 44 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND20619 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 7 MO

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Growth retardation;prominent forehead;frontal bossing;macrocephaly;bowshaped upper lip;anteverted nares;lowset ears;micrognathia;deep-set eyes;mid-face hypoplasia;developmental delay;heart murmur due to a VSD

text: 46;XX;der(11)(11pter>11q25:: 1q42.1>1qter)pat

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Translocated chromosome

text: GM10239 female unaffected Translocated chromosome sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: Tourette syndrome

text: 7 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND20620 male affected Tourette syndrome sample


text: Coriell

text: live

text: Generic

text: 12 YR

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Blisters on hands;feet;elbow;and ear at birth;pseudosyndactyly of hands;some swallowing difficulty;extensive dystrophic teeth;probably recessive dystrophic Hallopeau-Siemens type;EM confirmed dystrophic EB

characteristic: description

text: ITALIAN

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: GM10245 female affected Epidermolysis bullosa: dystrophic junctional or simplex types sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Tourette syndrome

text: 55 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Tourette syndrome

characteristic: tag

text: ND20621 male affected Tourette syndrome sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 39 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;1 affected daughter with EM confirmed dystrophic type EB

text: ITALIAN

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: GM10247 female unaffected Epidermolysis bullosa: dystrophic junctional or simplex types sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: 53 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND20622 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 32 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;4 paternal cousins have Cornelia de Lange syndrome;46;XY;t(3;22)(q25.3;p12)

characteristic: family id

text: paternal cousin

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Translocated chromosome

text: Cornelia de lange syndrome 1

text: GM10248 male unaffected Cornelia de lange syndrome 1 sample


text: Coriell

text: live

text: Generic

text: 25 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: ND20623 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 11 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: At risk;mother is affected

characteristic: description

text: AFRICAN-AMERICAN

characteristic: ethnicity

text: son

text: Homo sapiens

text: Black

text: Male

text: Spinocerebellar ataxia 1

text: GM10251 male unaffected Spinocerebellar ataxia 1 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Progressive supranuclear palsy

text: 57 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Progressive supranuclear palsy

characteristic: tag

text: ND20637 female affected Progressive supranuclear palsy sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 19 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Phenotypically normal;tall (5'10);menarche at age 14;irregular menses;no problems conceiving

text: ENGLISH

text: Homo sapiens

text: Caucasian

text: Female

text: Chromosome deletion

text: GM10254 female unaffected Chromosome deletion sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: 57 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: husband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: ND20638 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 8 MO

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Developed blisters under nails which extended to proximal fingers & some of the proximal toes on the 3rd day of life;feeding & respiratory difficulties;narrow trachea;dystrophic nails;probably junctional type;see GM10257 Fibroblast

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: GM10256 male affected Epidermolysis bullosa: dystrophic junctional or simplex types sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 14 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND20639 male affected Tourette syndrome sample


text: Coriell

text: live

text: Generic

text: 8 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Developed blisters under nails which extended to proximal fingers & some of the proximal toes on the 3rd day of life;feeding & respiratory difficulties;narrow trachea;dystrophic nails;probably junctional type;see GM10256 Lymphoid

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

characteristic: tag

text: GM10257 male affected Epidermolysis bullosa: dystrophic junctional or simplex types sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 43 YR

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND20640 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 30 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;1 affected son with probable junctional EB

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: GM10258 female unaffected Epidermolysis bullosa: dystrophic junctional or simplex types sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: 46 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND20641 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: Asphyxiating thoracic dystrophy

text: 7 DA

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Premature birth at 31 weeks gestation;Hispanic;persistent fetal circulation and respiratory distress

text: HISPANIC

characteristic: ethnicity

text: Homo sapiens

text: Caucasian

text: Female

text: ATD

text: Asphyxiating thoracic dystrophy

text: GM10259 female affected Asphyxiating thoracic dystrophy sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Tourette syndrome

text: 13 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: sister

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Tourette syndrome

text: ND20642 female affected Tourette syndrome sample


text: Coriell

text: live

text: Generic

text: 26 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Mother of a child with EM confirmed epidermolysis bullosa dystrophica;probably recessive;see GM10261A Fibroblast;spouse of GM10262;proband not in Repository

text: parent

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: GM10260 female unaffected Epidermolysis bullosa: dystrophic junctional or simplex types sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 16 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: ND20643 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 26 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Mother of a child with EM confirmed epidermolysis bullosa dystrophica;probably recessive;see GM10260A Lymphoid;spouse of GM10263;proband not in Repository

characteristic: description

text: parent

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

characteristic: tag

text: GM10261 female unaffected Epidermolysis bullosa: dystrophic junctional or simplex types sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 8 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: ND20644 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: 33 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Father of a child with EM confirmed epidermolysis bullosa dystrophica;probably recessive;see GM10263 Fibroblast;spouse of GM10260A;proband not in Repository

text: parent

text: Homo sapiens

text: Caucasian

text: Male

text: GM10262 male unaffected Epidermolysis bullosa: dystrophic junctional or simplex types sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Parkinson disease

text: 47 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Parkinson disease

text: ND20649 female affected Parkinson disease sample


text: Coriell

text: live

text: Generic

text: 33 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Father of a child with EM confirmed epidermolysis bullosa dystrophica;probably recessive;see GM10262 Lymphoid;spouse of GM10261A;proband not in Repository

characteristic: family id

text: parent

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: GM10263 male unaffected Epidermolysis bullosa: dystrophic junctional or simplex types sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 59 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinson disease

text: ND20653 male affected Parkinson disease sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: Translocated chromosome

text: 38 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: De Lange phenotype;developmental delay;profound retardation;seizures;3 cousins are also affected;46;XY;-22;+der (22)t(3;22)(q25.3;p12)

text: proband

text: 46;XY;der(22)(22qter> 22p12::3q25.3>3qter);46;XY;der(22)(3qter->3q25.3::22p12->22qter)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Translocated chromosome

text: Copy number variation (cnv) refernece panel 02

text: Cornelia de lange syndrome 1

text: GM10266 male affected Translocated chromosome sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 52 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: brother

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: PD

characteristic: tag

text: Parkinson disease

text: ND20654 male affected Parkinson disease sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Leprechaunism

text: 15 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Pre- and post-natal growth retardation;microcephaly;mental retardation;clitoromegaly;pachydermy;severe insulin resistance;patient has sickle cell trait;46;XX in PBL;see GM10277 Fibroblast

characteristic: description

text: proband

text: Homo sapiens

text: Black

text: Female

text: Leprechaunism

text: GM10267 female affected Leprechaunism sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 53 YR

text: B-Lymphocyte

text: NINDS Repository

text: Indigena Mexicana

characteristic: ethnicity

text: husband

text: Homo sapiens

text: Other

text: Male

text: Control

text: Population/convenience control

text: ND20658 male unaffected Control sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 4 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Neg fam hx;skin absent on 50% of body at birth;esophageal reflux;blisters;scars;constipation;mult caries;partial pseudosyndactyly formation on both hands & feet;prob recessive dystrophic Hallopeau-Siemens type;see GM10269 Fibr

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: GM10268 male affected Epidermolysis bullosa: dystrophic junctional or simplex types sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 51 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: PD

text: Parkinson disease

text: ND20667 male affected Parkinson disease sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 4 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Neg fam hx;skin absent on 50% of body at birth;esophageal reflux;blisters;scars;constipation;mult caries;partial pseudosyndactyly formation on both hands & feet;prob recessive dystrophic Hallopeau-Siemens type;see GM10268 Lym

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

characteristic: tag

text: GM10269 male affected Epidermolysis bullosa: dystrophic junctional or simplex types sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 35 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;1 affected son with EM documented EB dystrophica;probably recessive

characteristic: description

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: GM10270 female unaffected Epidermolysis bullosa: dystrophic junctional or simplex types sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 55 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister-in-law

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND20677 female unaffected Population/convenience control sample


text: Coriell

text: live

text: Generic

text: 35 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: GM10271 male unaffected Epidermolysis bullosa: dystrophic junctional or simplex types sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;aniridia;cataracts;hyperopia;and nystagmus first noted at 3 months of age;at age 12 years there was pendular nystagmus;bilateral total aniridia;bilateral posterior subcapsular cataractous changes;and absent foveae;normal ocular pressure;visual acuity 20/400 corrected;no genitourinary tract abnormalities;IQ=67;familial chromosome translocation;father (GM10274);paternal half-sister (GM10273);and paternal grandmother also affected with aniridia and familial chromosome translocation;seven family members in 4 generations affected with aniridia but karyotype unknown.

text: half-brother

text: 46;XY;t(11;22)(11qter>11p13::22q11.2 or 12.2>22qter;22pter>22q11.2 or 12.2:: 11p13>11pter)pat

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Translocated chromosome

text: GM10272 male affected Aniridia: types 1 or 2 - 106200 or 106210 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 48 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND20686 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 8 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;aniridia and nystagmus noted in newborn period;developmental delay noted at 9 months;brachydactyly of fifth digits;hemangioma of right labia majora;microcephaly;hypotonia;normal deep tendon reflexes;IQ=59;ophthalmologic exam in childhood revealed aniridia with rudimentary irides;bilateral exotropia;nystagmus;and foveal hypoplasia;glaucoma and bilateral subcapsular cataracts noted at age 4;no genitourinary tract abnormalities;familial chromosome translocation;father (GM10274);paternal half-brother(10272);and paternal grandmother also affected with aniridia and familial chromosome translocation;unaffected mother is GM10275;seven family members in 4 generations affected with aniridia but karyotype unknown.

text: proband

text: 46;XX;t(11;22)(11qter>11p13::22q11.2 or 12.2>22qter;22pter>22q11.2 or 12.2:: 11p13>11pter)pat

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Translocated chromosome

text: GM10273 female affected Aniridia: types 1 or 2 - 106200 or 106210 sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Tourette syndrome

text: 21 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Tourette syndrome

characteristic: tag

text: ND20687 male affected Tourette syndrome sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;aniridia;glaucoma;cataracts;no genitourinary tract abnormalities;normal intelligence;familial chromosome translocation;mother;son (GM10272) and daughter (GM10273) also affected with aniridia and familial chromosome translocation;seven family members in 4 generations affected with aniridia but karyotype unknown;spouse is GM10275.

characteristic: description

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Translocated chromosome

text: GM10274 male affected Aniridia: types 1 or 2 - 106200 or 106210 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Epilepsy

text: 5 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: sibling

text: Homo sapiens

text: More than one race

text: Female

text: Epilepsy

text: ND20688 female affected Epilepsy sample


text: Coriell

text: live

text: Generic

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;required special education;normal chromosomes;mother of GM10273;spouse of GM10274.

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: GM10275 female unaffected Aniridia: types 1 or 2 - 106200 or 106210 sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 56 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Control

text: Population/convenience control

text: ND20694 male unaffected Control sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 37 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal father of a child with elevated cholesterol;colitis;small for gestational age at birth;widely opened anterior fontanelle;posteriorly rotated ears;& groove in philtrum

text: ITALIAN

characteristic: ethnicity

text: 46;XY;t(8;14)(8pter>8q24.3::14q32.1> 14qter;14pter>14q32.1::8q24.3>8qter)

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Translocated chromosome

text: GM10276 male unaffected Translocated chromosome sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Progressive supranuclear palsy

text: 56 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: CZECH/GERMANY

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Progressive supranuclear palsy

text: ND20695 female affected Progressive supranuclear palsy sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Leprechaunism

text: 15 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Pre- and post-natal growth retardation;microcephaly;mental retardation;clitoromegaly;pachydermy;severe insulin resistance;patient has sickle cell trait;46;XX in PBL;see GM10267 Lymphoid

characteristic: description

text: proband

text: Homo sapiens

text: Black

text: Female

text: Leprechaunism

characteristic: tag

text: GM10277 female affected Leprechaunism sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 19 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Negative family history;onset at age 3 with blisters over trunk;blisters and erosions now cover entire body;mild hyperopia;multiple caries with extractions;several epidermal autografts;mild gastritis;probably junctional Mitis type

text: proband

text: Homo sapiens

text: Black

text: Male

text: GM10280 male affected Epidermolysis bullosa: dystrophic junctional or simplex types sample