text: Coriell

text: live

text: Generic

text: Neurofibromatosis type i

text: 41 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Cafe au lait spot biopsy-fibroblast culture;same patient as GM01858B;see GM01861A Lymphoid

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Neurofibromatosis type i

text: GM01859 male affected Neurofibromatosis type i sample


status: PUBLIC

characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 37 YR

tag: attribute

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected mother of ND04523

characteristic: family id

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

characteristic: sex

characteristic: tag

text: Epilepsy

text: ND04524 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

text: live

text: Generic

text: Neurofibromatosis type i

text: 41 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: HLA type A3;A2;B27;Bw22(Bw40);see also GM01858B and GM01859 Fibroblast;cafe au lait spots and neurofibromas

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Neurofibromatosis type i

text: GM01861 male affected Neurofibromatosis type i sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Epilepsy

text: 1 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Female

text: Epilepsy

text: ND04538 female affected Epilepsy sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 46 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: 46;XY/46;XY;t(4;7)(4pter>4q21::7q36> 7qter;7pter>7q36::4q21>4qter);70%/30%;normal RBC G6PD level;Xg(a) antigen absent;skin biopsy;brother of GM01864A

text: proband

text: 46;XY;t(4;7)(4pter>4q21::7q36> 7qter;7pter>7q36::4q21>4qter) 15 /46;XY 35

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Apparently healthy non-fetal tissue

text: GM01863 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Parkinson disease

text: 53 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Female

text: Parkinson disease

text: ND04548 female affected Parkinson disease sample


text: Coriell

text: live

text: Generic

text: 11 YR

characteristic: age

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: 46;XY;1 cell out of 60 showed chromosome structural aberration;skin biopsy;normal RBC G6PD level;Xg(a) antigen absent;brother of GM01863

text: brother

text: 46;XY;46;XY;t(1;6)(1qter>1p36.2::6p22>6pter;6qter>6p22::1p36.2>1pter) 9 /46;XY 41

text: Homo sapiens

text: Caucasian

text: Male

text: Apparently healthy non-fetal tissue

text: GM01864 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 49 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Parkinson disease

text: ND04553 male affected Parkinson disease sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 49 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: HLA type A28;A10;Bw15;Bw16;46;XY;20% of cells are polyploid;10% of cells show random chromosome loss;clinically unaffected;donor subject is heterozygous for a 1 bp deletion at nucleotide 1220 in exon 11 of the CTH gene (1220delC) resulting in the substitution of isoleucine for threonine at codon 355 Thr355Ile (T355I) causing a stop codon at 373

text: father

text: CTH

characteristic: gene

characteristic: mutation

text: 1 BP DEL

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: CTH

characteristic: tag

text: Cystathioninuria

text: Cystathionine gamma-lyase

text: GM01868 male unaffected Cystathionine gamma-lyase sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Parkinson disease

text: 57 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: WELSH

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: ND04566 male affected Parkinson disease sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 15 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: 46;XY;normal RBC G6PD(B) level;Xg(a) antigen absent;0.69 units G6PD in fibroblasts;negative for G6PD 563T (Ser188Phe{S188F}) mutation

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Glucose-6-phosphate dehydrogenase

text: GM01869 male unaffected Glucose-6-phosphate dehydrogenase sample


text: Coriell

text: live

text: Generic

text: 53 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: WELSH

characteristic: family id

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Control

text: Population/convenience control

text: ND04567 female unaffected Control sample


text: Coriell

text: live

text: Generic

text: Glucose-6-phosphate dehydrogenase

text: 14 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: 46;XY;RBC deficient for G6PD(med);Xg(a) antigen absent;G6PD mutation is 563C>T (Ser188Phe{S188F})

text: maternal first cousin

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

characteristic: tag

text: Glucose-6-phosphate dehydrogenase

text: GM01870 male affected Glucose-6-phosphate dehydrogenase sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 72 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected spouse of ND04569

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: ND04568 male unaffected Neurologically normal caucasian control panel sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 47 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: 46;XX;double heterozygote;G6PD(B) Xg(a)+/G6PD(med type) Xg(a)-;Sardinian;G6PD genotype is 563C>T (Ser188Phe{S188F})/ +

text: mother

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Glucose-6-phosphate dehydrogenase

text: GM01871 female unaffected Glucose-6-phosphate dehydrogenase sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 71 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected spouse is ND04568

characteristic: description

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: PD

text: Parkinson disease

text: ND04569 female affected Parkinson disease sample


text: Coriell

text: live

text: Generic

text: Diabetes mellitus

text: 12 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Onset at age 10;on Insulin;3 affected sibs;see GM02762 Lymphoid

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Diabetes mellitus

characteristic: tag

text: IDDM

text: Juvenile-onset insulin-dependent

text: GM01872 female affected Diabetes mellitus sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 73 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Subarachnoid hemorrhage

text: ND04570 female affected Subarachnoid hemorrhage sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Diabetes mellitus

text: 15 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Onset at age 13;on Insulin;see GM02763 Lymphoid

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Diabetes mellitus

text: IDDM

text: Juvenile-onset insulin-dependent

text: GM01873 female affected Diabetes mellitus sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Intracranial aneurysm - unruptured

text: 33 YR

text: B-Lymphocyte

text: NINDS Repository

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND04571 female affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

text: Generic

text: 22 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Non-diabetic;mentally retarded;4 affected sibs;see GM02766 Lymphoid

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Diabetes mellitus

text: IDDM

text: Juvenile-onset insulin-dependent

text: GM01874 female unaffected Diabetes mellitus sample


text: Coriell

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 53 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND04572 female affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

text: Generic

text: 17 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Non-diabetic;see GM02866A Lymphoid

characteristic: description

characteristic: family id

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Diabetes mellitus

text: IDDM

text: Juvenile-onset insulin-dependent

text: GM01875 male unaffected Diabetes mellitus sample


text: Coriell

text: live

text: Generic

text: 55 YR

text: B-Lymphocyte

text: NINDS Repository

text: Other Relative

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Intracranial rupture-status undefined

text: ND04573 male unaffected Intracranial rupture-status undefined sample


text: Coriell

text: live

text: Generic

text: 18 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Non-diabetic;see GM2812A Lymphoid

text: brother

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Diabetes mellitus

characteristic: tag

text: IDDM

text: Juvenile-onset insulin-dependent

text: GM01876 male unaffected Diabetes mellitus sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: PD

text: 62 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND04575

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Parkinsons panel: caucasian from north america

text: Late onset parkinsons dna panel: affected individuals

text: PD

text: Parkinson disease

text: ND04574 female affected PD sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 63 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND04574

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: ND04575 male unaffected Neurologically normal caucasian control panel sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 62 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected spouse of ND04585

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Neurologically normal caucasian control update of plate ndpt008

text: Population/convenience control

text: Ndpt079 neurologically normal caucasion control

text: Neurologically normal caucasian control panel

text: ND04584 female unaffected Population/convenience control sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 50 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Non-diabetic;4 affected children;see GM03356A Lymphoid

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Diabetes mellitus

text: IDDM

text: Juvenile-onset insulin-dependent

text: GM01877 male unaffected Diabetes mellitus sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: PD

text: 64 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND04584

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinsons panel: caucasian from the united states

text: PD

text: Parkinson disease

text: ND04585 male affected PD sample


text: Coriell

text: live

text: Generic

text: 41 YR

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Non-diabetic;see GM02714 Lymphoid

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Diabetes mellitus

text: IDDM

text: Juvenile-onset insulin-dependent

text: GM01878 female unaffected Diabetes mellitus sample


text: Coriell

text: live

text: Generic

text: 74 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND04587

characteristic: description

characteristic: family id

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND04586 female unaffected Population/convenience control sample


text: Coriell

text: live

text: Generic

text: Retinoblastoma

text: 11 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Skin fibroblast culture;bilateral;also has osteosarcoma;46;XX;mother has unilateral retinoblastoma

text: proband

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Rb1 osteosarcoma, retinoblastoma-related included

text: Retinoblastoma

text: GM01879 female affected Retinoblastoma sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: PD

text: 76 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND04586

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

characteristic: tag

text: PD

text: Parkinson disease

text: ND04587 male affected PD sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Retinoblastoma

text: 37 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Unilateral retinoblastoma;benign right para-ovarian cyst at 24;multiple leiomyomas of uterus at 29;46;XX in leukocytes;skin fibroblast culture;moderate hypersensitivity to cell killing by ionizing radiation and bleomycin

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Retinoblastoma

text: GM01880 female affected Retinoblastoma sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Subarachnoid hemorrhage

text: 67 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: sister

text: Homo sapiens

text: American Indian

text: Female

text: Subarachnoid hemorrhage

text: ND04588 female affected Subarachnoid hemorrhage sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Translocated chromosome

text: 3 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Deficient heparan N-sulfatase;normal alpha-N-acetylglucosaminidase activity;46;XY;t(1;21)(1qter>1p31::21q22>21qter;21pter>21q22::1p31>1pter);balanced;excessive heparan sulfate in urine;donor subject is a compound heterozygote: one allele has a missense mutation (C>G) at nucleotide 209 (209C>G) of the SGSH gene Ser66Trp(S66W);the second allele has a Val to Met change at codon 131 Val131Met (V131M)

text: SGSH

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Translocated chromosome

text: Mucopolysaccharidosis type iiia

text: N-sulfoglucosamine sulfohydrolase

text: SGSH

text: GM01881 male affected Translocated chromosome sample


text: Coriell

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 65 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: American Indian

text: Female

text: Intracranial aneurysm - unruptured

text: ND04589 female affected Intracranial aneurysm - unruptured sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Glucose-6-phosphate dehydrogenase

text: 11 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: 46;XY;G6PD(med);Xg(a) antigen absent;negative for G6PD 563T(Ser188Phe{S188F}) mutation

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

characteristic: tag

text: Glucose-6-phosphate dehydrogenase

text: GM01886 male affected Glucose-6-phosphate dehydrogenase sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Epilepsy

text: 1 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: African American

text: Male

text: Epilepsy

text: ND04613 male affected Epilepsy sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 7 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: 46;XY;G6PD(B);Xg(a) antigen absent;0.76 units G6PD in fibroblasts;negative for G6PD 563T(Ser188Phe{S188F}) mutation

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Glucose-6-phosphate dehydrogenase

text: GM01887 male unaffected Glucose-6-phosphate dehydrogenase sample


text: Coriell

text: live

text: Generic

text: Epilepsy

text: 22 MO

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

text: ND04614 female affected Epilepsy sample


text: Coriell

text: live

text: Generic

text: 14 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: 46;XY;G6PD(B);Xg(a) antigen absent;negative for G6PD 563T(Ser188Phe{S188F}) mutation

characteristic: family id

text: brother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Glucose-6-phosphate dehydrogenase

text: GM01888 male unaffected Glucose-6-phosphate dehydrogenase sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Epilepsy

text: 46 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected daughter is ND04616

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

text: ND04615 female affected Epilepsy sample


text: Coriell

text: live

text: Generic

text: Xx male syndrome

text: 24 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: 46;XX;phenotypically male;G6PD type B;Xg(a) antigen pos;DNA from fibros does not hybridize Y-chromosome-specific DNA probes mapping near to the putative testis determining locus;gene dosage studies consistent with 2 copies of STS

characteristic: karyotype

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Xx male syndrome

text: GM01889 male affected Xx male syndrome sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 12 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected daughter of ND04615

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND04616 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 24 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: 46;XY;normal RBC level of G6PD(B);skin biopsy;10% of cells show random chromosome loss

text: Homo sapiens

text: Caucasian

text: Male

text: Apparently healthy non-fetal tissue

text: GM01891 male unaffected Apparently healthy non-fetal tissue sample

characteristic: title


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: Unaffected mother is ND04634;unaffected father is ND04635

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy generalized: caucasian

text: Epilepsy

text: ND04633 male affected Epilepsy sample


text: Coriell

text: live

text: Generic

text: 37 YR

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: 46;XX;t(9;18)(9qter>9p24::18q12> 18qter;18pter>18q12::9p24>9pter)

text: Homo sapiens

text: Caucasian

text: Female

text: Translocated chromosome

text: GM01892 female unaffected Translocated chromosome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 37 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother of ND04633;unaffected spouse of ND04635

characteristic: family id

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND04634 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: Mucopolysaccharidosis type ii

text: 20 FW

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Excessive mucopolysaccharide accumulation correctable by Hunter factor

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Mucopolysaccharidosis type ii

text: GM01896 male affected Mucopolysaccharidosis type ii sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 48 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected father of ND04633;unaffected spouse of ND04634

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: ND04635 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 32 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: GM01897 female affected Ehlers-danlos syndrome: type unclassified sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Parkinson disease

text: 67 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND04637

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: ND04636 male affected Parkinson disease sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Hurler-scheie syndrome

text: 6 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Arab;deficient Alpha-L-Iduronidase;Hurler/Scheie syndrome

text: ARABIAN

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Hurler-scheie syndrome

text: GM01898 male affected Hurler-scheie syndrome sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 67 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND04636

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND04637 female unaffected Neurologically normal caucasian control panel sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: Lesch-nyhan syndrome

text: 10 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: HLA type A2;A11;B18;B5(Bw35);lymphoid culture is nonviable in HAT medium;the 5'-most 17 bases of exon 9 are deleted in HPRT cDNA

text: proband

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: LNS

text: Hypoxanthine guanine phosphoribosyltransferase 1

text: Lesch-nyhan syndrome

text: HPRT

text: GM01899 male affected Lesch-nyhan syndrome sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 46 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: identical twin

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Subarachnoid hemorrhage

text: ND04647 female affected Subarachnoid hemorrhage sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: HLA type A2;A28;B18;B5(Bw35);no family history available;1 affected son;46;XX;16% of cells show random chromosome loss/gain;clinically unaffected

characteristic: description

text: mother

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: LNS

characteristic: tag

text: Lesch-nyhan syndrome

text: GM01900 female unaffected Lesch-nyhan syndrome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Parkinson disease

text: 34 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Parkinson disease

text: ND04652 female affected Parkinson disease sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Galactosemia

text: 6 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Same patient as GM00054;biopsied 6 years later;deficient transferase and normal kinase activity in fibroblasts;see also GM00638A (SV40 Transformed) and GM02795A Lymphoid

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Galactosemia

text: GM01907 male affected Galactosemia sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 51 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Parkinson disease

text: ND04654 male affected Parkinson disease sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Galactosemia

text: 15 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Same patient as GM00052;biopsied 7 years later;see also GM00639 (SV40 Transformed) and GM02796 Lymph;no detectable transferase activity in RBCs or fibroblasts;similarly affected brother

text: proband

text: Homo sapiens

text: Black

text: Male

characteristic: sex

text: Galactosemia

text: GM01908 male affected Galactosemia sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Epilepsy

text: 47 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy

text: Epilepsy, focal: caucasian

text: ND04658 male affected Epilepsy sample


text: Coriell

text: live

text: Generic

text: Diabetes mellitus

text: 19 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Onset at age 4;on Insulin;hypertension;short stature;see GM02765 Lymph

characteristic: description

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Diabetes mellitus

characteristic: tag

text: IDDM

text: Juvenile-onset insulin-dependent

text: GM01909 male affected Diabetes mellitus sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 44 YR

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Control

text: Population/convenience control

text: ND04659 female unaffected Control sample


text: Coriell

text: live

text: Generic

text: 21 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Non-diabetic;4 affected sibs;see GM03354A Lymphoid

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Diabetes mellitus

text: IDDM

text: Juvenile-onset insulin-dependent

text: GM01910 female unaffected Diabetes mellitus sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 46 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND04663 female affected Intracranial aneurysm - unruptured sample

characteristic: title


text: Coriell

text: live

text: Generic

text: Diabetes mellitus

text: 20 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Onset at age 4;on Insulin;see GM02764 Lymphoid

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Diabetes mellitus

text: IDDM

text: Juvenile-onset insulin-dependent

text: GM01911 male affected Diabetes mellitus sample


text: Coriell

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 65 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Subarachnoid hemorrhage

text: Subarachnoid hemorrhage, caucasian from north america

text: ND04665 male affected Subarachnoid hemorrhage sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Sea-blue histiocyte disease

text: 24 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: See GM01913 Lymphoid;muscle biopsy showed foamy histiocytes and sea-blue histiocytes;eye movement abnormalities

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Sea-blue histiocyte disease

text: GM01912 female affected Sea-blue histiocyte disease sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Parkinson disease

text: 73 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND04675

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: PD

text: Parkinson disease

text: ND04674 male affected Parkinson disease sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Sea-blue histiocyte disease

text: 24 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: See GM01912 Fibroblast;HLA type A2;Aw31;B18;B13;muscle biopsy showed foamy histiocytes and sea-blue histiocytes;eye movement abnormalities

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Sea-blue histiocyte disease

text: GM01913 female affected Sea-blue histiocyte disease sample


text: Coriell

text: live

text: Generic

text: 72 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND04674

characteristic: description

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

characteristic: tag

text: ND04675 female unaffected Neurologically normal caucasian control panel sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Familial hypercholesterolemia

text: 13 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Receptor negative

text: Homo sapiens

text: Black

text: Female

text: FHC

text: Familial hypercholesterolemia

text: GM01915 female affected Familial hypercholesterolemia sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 43 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinson disease

text: ND04677 male affected Parkinson disease sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Aneuploid chromosome number - trisomy

text: 23 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinical features of Down syndrome;see GM01921A Lymphoid

text: proband

text: 47;XY;t(8;14)(8pter>8q13::14q13> 14qter;14pter>14q13::8q13>8qter);inv(9)(pter>p11::q13>p11:: q13>qter)mat;+21

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Trisomy 21

text: Aneuploid chromosome number - trisomy

text: GM01920 male affected Aneuploid chromosome number - trisomy sample

characteristic: title


text: Coriell

text: live

text: Generic

text: Epilepsy

text: 11 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected mother is ND04693

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy generalized: caucasian

text: Epilepsy

text: ND04692 female affected Epilepsy sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Aneuploid chromosome number - trisomy

text: 23 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: See GM01920 Fibroblast;clinical features of Down syndrome

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Trisomy 21

text: Aneuploid chromosome number - trisomy

text: GM01921 male affected Aneuploid chromosome number - trisomy sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 41 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother of ND04692

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: ND04693 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Mucopolysaccharidosis type ii

text: 16 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Mild type;excessive mucopolysaccharide accumulation correctable by Hunter factor

characteristic: description

text: uncle

text: Homo sapiens

text: Caucasian

text: Male

text: Mucopolysaccharidosis type ii

characteristic: tag

text: GM01927 male affected Mucopolysaccharidosis type ii sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 45 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Asian

text: Female

text: Intracranial aneurysm - unruptured

text: ND04715 female affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

text: Generic

text: Mucopolysaccharidosis type ii

text: 7 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Mild type;excessive mucopolysaccharide accumulation correctable by Hunter factor;similarly affected uncle

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Mucopolysaccharidosis type ii

text: GM01928 male affected Mucopolysaccharidosis type ii sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Mucopolysaccharidosis type ii

text: 7 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Severe type;excessive mucopolysaccharide accumulation correctable by Hunter factor

text: ITALIAN

characteristic: ethnicity

text: Homo sapiens

text: Caucasian

text: Male

text: Mucopolysaccharidosis type ii

text: GM01929 male affected Mucopolysaccharidosis type ii sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 39 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Non-diabetic;HLA type A2;Bw15/Aw32;B12;formerly GM01802;3 affected children

characteristic: family id

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Wolfram syndrome

text: GM01930 female unaffected Wolfram syndrome sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 39 YR

text: B-Lymphocyte

text: NINDS Repository

text: daughter

text: Homo sapiens

text: American Indian

text: Female

characteristic: sex

text: ND04718 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 73 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Swiss;father of an affected child;proband not in Repository

characteristic: description

text: Homo sapiens

text: Caucasian

text: Male

text: Cat acatalasemia included

characteristic: tag

text: Catalase

text: GM01931 male unaffected Catalase sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 66 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: sister

text: Homo sapiens

text: American Indian

text: Female

text: Intracranial aneurysm - unruptured

text: ND04720 female affected Intracranial aneurysm - unruptured sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Glucosidase acid alpha

text: 30 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Adult form;onset of generalized muscle wasting & weakness at age 30;history of amenorrhea & hypertension;normal size and amount of mRNA for GAA;GAA protein detected by antibody;but deficient acid-alpha-1;4 glucosidase (0.14%);donor subject is a compound heterozygote with only one allele expressed: allele one (the silent allele) carries a C>T transition at nucleotide 2560 in exon 18 of the GAA gene (2560C>T) which results in a nonsense codon at amino acid 854 Arg854Ter (R854X);allele two carries three amino acid substitutions: (1) a missense mutation caused by a C>A transversion at nucleotide 1935 in exon 14 (1935C>A) which results in substitution of glutamic acid for aspartic acid at codon 645 Asp645Glu (D645E) and accounts for the defects in transport;phosphorylation;and proteolytic processing of the alpha-glucosidase;(2) a G>A transition at nucleotide 2446 (2446G>A) in exon 17 which results in a polymorphism {a substitution of isoleucine for valine at codon 816 Val816Ile (V816I) };and (3) a C>T transition at nucleotide 2780 (2780C>T) in exon 19 which results in a substitution of isoleucine for threonine at codon 927 Thr927Ile (T927I) .

text: GAA

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Black

text: Female

text: Glucosidase acid alpha

text: GAA

text: Glycogen storage disease ii

text: GM01935 female affected Glucosidase acid alpha sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Parkinson disease

text: 56 YR

text: B-Lymphocyte

text: NINDS Repository

text: WELSH

characteristic: ethnicity

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: PD

text: Parkinson disease

text: ND04734 male affected Parkinson disease sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 5 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Deficient branched-chain keto-acid decarboxylase activity

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: GM01938 male affected Maple syrup urine disease (msud) type ia sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 54 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: WELSH

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Control

characteristic: tag

text: Population/convenience control

text: ND04735 female unaffected Control sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 13 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: 44% of fibroblasts are 45;X;Turner syndrome phenotype;slow growing culture

characteristic: description

text: 46;X;del(X)(pter>q11:) 28 /45;X 22

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Chromosome deletion

text: Turner syndrome

text: GM01941 female unaffected Chromosome deletion sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 39 YR

text: B-Lymphocyte

text: NINDS Repository

text: WELSH

characteristic: ethnicity

characteristic: family id

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Control

text: Population/convenience control

text: ND04736 male unaffected Control sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 27 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Phenotypically normal;mother of an XY female (GM01628)

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Apparently healthy non-fetal tissue

text: GM01948 female unaffected Apparently healthy non-fetal tissue sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Parkinson disease

text: 36 YR

text: B-Lymphocyte

text: NINDS Repository

text: WELSH

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: PD

text: Parkinson disease

text: ND04737 female affected Parkinson disease sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 22 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Formerly GM01079;46;XX;4% of cells show random chromosome loss;2% show random chromosomal aberrations

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Apparently healthy non-fetal tissue

characteristic: tag

text: GM01953 female unaffected Apparently healthy non-fetal tissue sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Parkinson disease

text: 49 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinson disease

text: ND04754 male affected Parkinson disease sample


text: Coriell

text: live

text: Generic

text: 44 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Formerly GM01080;46;XX;24% of cells show random chromosome loss;2% show random gain

characteristic: description

characteristic: family id

text: proband

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Apparently healthy non-fetal tissue

text: GM01954 female unaffected Apparently healthy non-fetal tissue sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Parkinson disease

text: 36 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Parkinson disease

text: ND04756 male affected Parkinson disease sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: CF

text: 11 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Diagnosed at age 3 months;pancreatic insufficiency;similarly affected sib;defective fibroblast cAMP-stimulated Cl channel;donor subject is homozygous for the deltaF508 deletion mutation (Phe508DEL)

text: proband

text: CFTR

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: CF

text: Cystic fibrosis

text: Cystic fibrosis transmembrane conductance regulator

text: CFTR

text: GM01957 male affected CF sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 53 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Subarachnoid hemorrhage

characteristic: tag

text: ND04757 male affected Subarachnoid hemorrhage sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: CF

text: 13 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Diagnosed at age 3 months;very little pulmonary involvement;a deceased sib had cystic fibrosis;donor subject is homozygous for the deltaF508 deletion mutation (Phe508DEL)

characteristic: description

text: CFTR

text: Homo sapiens

text: Caucasian

text: Male

text: CF

text: Cystic fibrosis

text: CFTR

text: GM01958 male affected CF sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Intracranial aneurysm - unruptured

text: 42 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: sister

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Intracranial aneurysm unruptured: caucasian

text: Intracranial aneurysm - unruptured

text: ND04758 female affected Intracranial aneurysm - unruptured sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Cystic fibrosis

text: 10 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Also suffers from asthma;defective fibroblast cAMP-stimulated Cl- channel

text: brother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: CF

text: Cystic fibrosis

text: GM01959 male affected Cystic fibrosis sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Parkinson disease

text: 51 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Female

characteristic: sex

text: Parkinson disease

text: ND04760 female affected Parkinson disease sample


text: Coriell

text: live

text: Generic

text: VED

text: 15 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected with Friedreich-like ataxia;Mexican;marked weakness;hypotonia;cerebellar deficit;and sensory deficit;abolished muscle stretch reflexes;similarly affected brother;slow growing culture;for this donor subject the GAA triplet repeat expansion in the first intron of the frataxin gene is within the normal range for both alleles;donor subject is homozygous for a C>T transition at nucleotide 661 of the TTPA gene resulting in an arg to trp substitution at codon 221 Arg221Trp (R221W)

text: MEXICAN

characteristic: ethnicity

text: TTPA

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: VED

characteristic: tag

text: TTPA

text: Tocopherol transfer protein alpha

text: Vitamin e, familial isolated deficiency of

text: GM01960 female affected VED sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Intracranial aneurysm - unruptured

text: 59 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Intracranial aneurysm - unruptured

text: ND04767 male affected Intracranial aneurysm - unruptured sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Hutchinson-gilford progeria syndrome

text: 14 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Classical progeria;46;XX in lymphocytes and fibroblasts;6% of cells show chromosome aberrations;same patient as AG01972B

characteristic: description

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Hutchinson-gilford progeria syndrome

text: HGPS

text: GM01972 female affected Hutchinson-gilford progeria syndrome sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: PD

text: 80 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND04771

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Late onset parkinsons dna panel: affected individuals

text: Parkinsons panel: caucasian from the united states

text: PD

text: Parkinson disease

text: ND04770 female affected PD sample


text: Coriell

text: live

text: Generic

text: 2 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: See GM01982 Lymph;fibroblasts exhibit elevated copper concentrations;abnormal metallothionein gene regulation in response to copper;SV40 transformed culture shows qualitative and quantitative changes in Mc1 mRNA;donor subject has a 5 bp deletion at nucleotide 803 in exon 4 of the ATP7A gene (803_807delATCTC) causing a frameshift after Leu219

text: proband

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Menkes syndrome

text: GM01981 male affected Atpase, cu(2+)-transporting, alpha polypeptide sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 81 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected spouse of ND04770

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

characteristic: tag

text: ND04771 male unaffected Neurologically normal caucasian control panel sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 2 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: See GM01981 Fibroblast;46;XY;fibroblasts show elevated copper concentration;donor subject has a 5 bp deletion at nucleotide 803 in exon 4 of the ATP7A gene (803_807delATCTC) causing a frameshift after Leu219

characteristic: description

text: proband

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Menkes syndrome

text: GM01982 male affected Atpase, cu(2+)-transporting, alpha polypeptide sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Epilepsy

text: 22 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother is ND04775;unaffected father is ND04776

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Epilepsy generalized: caucasian

text: Epilepsy

text: ND04774 male affected Epilepsy sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 26 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: See GM01984 Lymphoid;son is only affected child in an extended family;normal metallothionein gene regulation in response to copper;clinically unaffected mother of GM01981

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Menkes syndrome

text: GM01983 female unaffected Menkes syndrome sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 50 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected mother of ND04774;unaffected spouse is ND04776

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND04775 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 26 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: See GM01983 Fibroblast;son is only affected child in an extended family

characteristic: description

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Menkes syndrome

text: GM01984 female unaffected Menkes syndrome sample


text: Coriell

text: live

text: Generic

text: 49 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND04775;unaffected father of ND04774

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: ND04776 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 33 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Formerly GM01076;46;XY;4% of cells showed a random chromosome loss

text: proband

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Apparently healthy non-fetal tissue

text: GM01989 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Epilepsy

text: 15 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother is ND04778;unaffected sister is ND04779

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy generalized: caucasian

text: Epilepsy

text: ND04777 male affected Epilepsy sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: 51 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: 46;XX/47;XX;+12;96%/4%;formerly GM01077;tested negative for BRCA2 breast cancer mutation

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Apparently healthy non-fetal tissue

text: GM01990 female unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 43 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected mother of an affected son (ND04777) and an unaffected daughter (ND04779)

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: ND04778 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 21 FW

text: Amniotic fluid-derived cell line

text: NIGMS Human Genetic Cell Repository

characteristic: collection

characteristic: description

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: GM01993 male unaffected Aneuploid chromosome number - non-trisomic sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 24 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected sister of ND04777;daughter of ND04778

text: sister

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND04779 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: Sitosterolemia

text: 9 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Xanthomas

text: Homo sapiens

text: Caucasian

text: Male

text: Sitosterolemia

text: GM01995 male affected Sitosterolemia sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 34 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Parkinson disease

text: ND04780 female affected Parkinson disease sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 1 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Duarte variant-galactosemia heterozygote;reduced transferase activity in fibroblasts and erythrocytes;GALT gene mutation is 2744A>G Asn314Asp (N314D) /+

text: GALT

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: GALT

text: Galactosemia

text: GM01996 male unaffected Galactose-1-phosphate uridylyltransferase sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: Intracranial aneurysm - unruptured

text: 41 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: grandniece

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Intracranial aneurysm unruptured: caucasian

text: Intracranial aneurysm - unruptured

text: ND04785 female affected Intracranial aneurysm - unruptured sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 4 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;born at 8 months gestation due to placenta previa;bilateral polydactyly and hypospadias noted at birth;IVP demonstrated obstruction at the left ureteropelvic junction and possible vesicoureteral reflux with minimal dilation of the calyces;in first week of life chest x-ray suggested right lower lobe infiltrate;ADA deficiency of red blood cells was identified through neonatal screening for inherited disordes;normal thymic shadow;height and weight progressed from 3rd to 25th percentile at 20 months of age;normal development;transient hypogammaglobulinemia;normal serum levels of IgG;IgM;IgA;and IgE at 10-12 months of age;eosiniphilia but isoagglutinins are present;deficient RBC ADA activity;partial ADA deficiency in fibroblasts and lymphoblasts;enzyme phenotypes: 6PGD=A;G6PD=B;ADA=1;Neutral A-glucosidase C=2;donor subject is homozygous for a G>A transition at nucleotide 643 in exon 7 of the ADA gene 643G>A resulting in a substitution of threonine for alanine at codon 215 Ala215Thr(A215T);same donor as GM02294 lymphocyte.

characteristic: description

text: proband

text: ADA

text: Homo sapiens

text: Black

text: Male

text: Severe combined immunodeficiency autosomal recessive

characteristic: tag

text: Adenosine deaminase

text: ADA

text: GM01997 male unaffected T cell-negative, b cell-negative, nk cell-negative due to adenosine deaminase deficiency sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Epilepsy

text: 4 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Epilepsy

text: ND04786 male affected Epilepsy sample

characteristic: title


text: Coriell

text: live

text: Generic

text: Transthyretin

text: 16 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Non-Portuguese;see GM01999 Lymphoid;4 affected generations (all female);vitreous opacities and perivascular exudates;affected mother died at age 21

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: TTR

text: Transthyretin

text: GM01998 female affected Transthyretin sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Epilepsy

text: 5 YR

text: B-Lymphocyte

text: NINDS Repository

text: Affected father is ND06633

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Epilepsy

text: ND04787 female affected Epilepsy sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Transthyretin

text: 16 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Non-Portuguese;see GM01998 Fibroblast;4 affected generations (all female);vitreous opacities & perivascular exudates;affected mother died at age 21

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: TTR

text: Transthyretin

text: GM01999 female affected Transthyretin sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 61 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Parkinson disease

text: ND04832 female affected Parkinson disease sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Familial hypercholesterolemia

text: 7 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Receptor negative;same patient as GM01116;LDL receptor activity < 1% of value obtained with normal cells

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: FHC

text: Familial hypercholesterolemia

text: GM02000 male affected Familial hypercholesterolemia sample


text: Coriell

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 61 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Subarachnoid hemorrhage

text: ND04835 female affected Subarachnoid hemorrhage sample


text: Coriell

text: live

text: Generic

text: 11 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: 46;XX;del(4)(pter->q32::q34->qter).arr 4q32.3q34.3(164506101-177868024)x1;22q11.21(17256415-17386984)x3;46;XX;del(4)(pter>q33::q35>qter);46;XX;del(4)(pter>q33::q35>qter).ish del(4)(D4S2930+)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Chromosome deletion

characteristic: tag

text: GM02003 female unaffected Chromosome deletion sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Intracranial aneurysm - unruptured

text: 59 YR

text: B-Lymphocyte

text: NINDS Repository

text: first cousin

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND04836 female affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Xeroderma pigmentosum, variant type

text: 30 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Patient shows gradual mental redardation;XP1WA;46;XX;50% of cells have unidentified 2q+

characteristic: description

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Xeroderma pigmentosum, variant type

text: XPV

text: GM02004 female affected Xeroderma pigmentosum, variant type sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 38 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: same subject as ND29968

characteristic: family id

text: proband

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Asian

text: Male

text: Parkinson disease

text: ND04841 male affected Parkinson disease sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: Ehlers-danlos syndrome type i

text: 38 YR

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically affected

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Ehlers-danlos syndrome type i

text: GM02007 female affected Ehlers-danlos syndrome type i sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Intracranial rupture-status undefined

text: 62 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Intracranial rupture-status undefined

text: ND04849 female affected Intracranial rupture-status undefined sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 2 WK

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Multiple congenital anomalies and bilateral colobomata

text: 46;XX;del(11)(pter->q23.3:).arr 8p23.1(7237777-7847304)x1;11q23.3(118170784-119064341)x3;11q23.3q25(119078074-134449982)x1;46;XX;del(11)(pter>q24:)

characteristic: karyotype

text: Homo sapiens

text: Black

text: Female

text: Chromosome deletion

characteristic: tag

text: GM02008 female unaffected Chromosome deletion sample


text: Coriell

text: live

text: Generic

text: Epilepsy

text: 8 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother is ND04851;unaffected father is ND04852

characteristic: description

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Epilepsy generalized: caucasian

text: Epilepsy

text: ND04850 female affected Epilepsy sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: 10 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: XP1PD;mental and growth retardation;photosensitivity;similarly affected sib;the donor subject is a compound heterozygote for two mutations in the XPA gene: one allele carries a 5 bp deletion (CTTAT) at nucleotides 349-353 of exon 3 which causes a frameshift that results in the replacement of the sequence leu-met-asn (amino acids 117-119) by glu-pro-leu;followed by translation termination;the second allele carries a G-to-T transversion at nucleotide 323 of exon 3 altering the Cys-108 codon (TGT) to a phe codon (TTT) that results in disruption of a putative zinc finger domain of the XPA protein Cys108Phe (C108F) .

text: NORTHERN EUROPEAN

characteristic: ethnicity

text: proband

text: XPA

characteristic: gene

characteristic: mutation

text: 5BP DEL

text: Homo sapiens

text: Caucasian

text: Female

text: XPA

text: GM02009 female affected Xeroderma pigmentosum, complementation group a sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 33 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected mother of ND04850;unaffected spouse is ND04852

text: mother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: ND04851 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 4 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: XP2PD;mental and growth retardation;photosensitivity;the donor subject is a compound heterozygote for two mutations in the XPA gene: one allele carries a 5 bp deletion (CTTAT) at nucleotides 349-353 in exon 3 which causes a frameshift that results in the replacement of the sequence leu-met-asn (amino acids 117-119) by glu-pro-leu;followed by translation termination;the second allele carries a G-to-T transversion at nucleotide 323 in exon 3 altering the Cys-108 codon (TGT) to a Phe codon (TTT) that results in disruption of a putative zinc finger domain of the XPA protein Cys108Phe (C108F) .

text: brother

text: XPA

text: 5BP DEL

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: XPA

text: GM02010 male affected Xeroderma pigmentosum, complementation group a sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: 34 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND04851;unaffected father of ND04850

characteristic: description

characteristic: family id

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: ND04852 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: Argininemia

text: 5 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Mexican-American;RBC arginase deficiency;see GM00954 Fibroblast

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Argininemia

text: GM02011 female affected Argininemia sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 67 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected spouse of ND04854

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND04853 female unaffected Neurologically normal caucasian control panel sample


text: Coriell

text: live

text: Generic

text: 2 WK

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Arab;fibroblasts show deficiencies for several lysosomal hydrolases;undetectable level of N-acetylglucosaminylphosphotransferase activity;GlcNAc-Phosphotransferase activity = <0.1% (measured as specific activity in cell lysate and reported as percentage of activity in normal fibroblasts);donor subject is a compound heterozygote: one allele has a duplication in exon 16 of the GNPTAB gene 3395_3398dupCTAC resulting in a frameshift and truncation of the protein in the beta subunit Y1079fsX1081 and a second allele has a 2-bp deletion in exon 19 of the GNPTAB gene 3665_3666delTC resulting in a frameshift and truncation of the protein in the beta subunit L1168fsX1172 .

text: ARABIAN

characteristic: ethnicity

text: proband

text: GNPTAB

characteristic: gene

characteristic: mutation

text: 4-BP DUP

text: 2-BP DEL

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: ML II

text: GNPTAB

text: Mucolipidosis ii

text: GM02013 male affected N-acetylglucosamine-1-phosphotransferase alpha/beta subunits sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Parkinson disease

text: 69 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND04853

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinsons panel: caucasian from the united states

characteristic: tag

text: PD

text: Parkinson disease

text: ND04854 male affected Parkinson disease sample


characteristic: DNA id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 18 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Arab;clinically unaffected mother of GM02013D;GlcNAc-Phosphotransferase activity = 58% (measured as specific activity in cell lysate and reported as percentage of activity in normal fibroblasts);donor subject has one allele which has a duplication in exon 16 of the GNPTAB gene 3395_3398dupCTAC resulting in a frameshift and truncation of the protein in the beta subunit Y1079fsX1081 .

characteristic: description

text: ARABIAN

characteristic: family id

text: mother

text: GNPTAB

text: 4-BP DUP

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ML II

text: GNPTAB

text: Mucolipidosis ii

text: GM02014 female unaffected N-acetylglucosamine-1-phosphotransferase alpha/beta subunits sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 59 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND04863 female affected Intracranial aneurysm - unruptured sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 35 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Arab;clinically unaffected mother of child;GM01898;with Hurler/Scheie syndrome

text: MIDDLE EASTERN

characteristic: ethnicity

text: mother

characteristic: gene

text: ARG296CYS AND SER486THR

characteristic: mutation

text: DUP

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Hurler-scheie syndrome

text: GM02016 female unaffected Hurler-scheie syndrome sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Epilepsy

text: 1 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Asian

text: Male

text: Epilepsy

characteristic: tag

text: ND04876 male affected Epilepsy sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 40 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Arab;clinically unaffected father of child;GM01898;with Hurler/Scheie syndrome

characteristic: description

text: ARABIAN

characteristic: family id

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Hurler-scheie syndrome

text: GM02017 male unaffected Hurler-scheie syndrome sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 37 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND04890 female affected Intracranial aneurysm - unruptured sample

characteristic: title


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: 2 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Delayed psychomotor development;multiple anomalies;hyperkinesis

characteristic: karyotype

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Translocated chromosome

text: GM02018 female unaffected Translocated chromosome sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Subarachnoid hemorrhage

text: 58 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Subarachnoid hemorrhage

text: ND04896 female affected Subarachnoid hemorrhage sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Ehlers-danlos syndrome: type iv

text: 18 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Recurrent aneurysms;blue sclerae;hypomobile thumbs;mode of inheritance uncertain;negative family history

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Arterial, ecchymotic type

characteristic: tag

text: Ehlers-danlos syndrome: type iv

text: GM02022 female affected Ehlers-danlos syndrome: type iv sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 46 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: maternal first cousin

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND04897 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 3 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: XP1JO;Zulu;several carcinomas of the oral cavity

characteristic: description

text: ZULU

characteristic: ethnicity

text: brother

text: Homo sapiens

text: Black

text: Male

text: XPC

text: GM02024 male affected Xeroderma pigmentosum, complementation group c sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 70 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: American Indian

characteristic: race

text: Female

text: Subarachnoid hemorrhage

text: ND04913 female affected Subarachnoid hemorrhage sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 2 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Microcephaly;low set ears;small eyes;high arched palate with bifid uvula;abdominal hernia;dislocated hip;hypotonia;bilateral small kidneys;parents both have normal karyotypes

text: 46;XY;del(1)(pter->q23::q25->qter).arr 1q23.3q25.2(159256504-176275096)x1;46;XY;del(1)(pter>q21::q25>qter)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Chromosome deletion

text: GM02025 male unaffected Chromosome deletion sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Parkinson disease

text: 71 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: PD

text: Parkinson disease

text: ND04916 male affected Parkinson disease sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 32 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: 46;XX;heterozygote;G6PD(med)/G6PD(B);Xg(a) antigen present;G6PD genotype is 563C>T (Ser188Phe{S188F})/+

characteristic: family id

text: proband

characteristic: gene

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: tag

text: Glucose-6-phosphate dehydrogenase

text: GM02026 female unaffected Glucose-6-phosphate dehydrogenase sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 61 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Control

text: Population/convenience control

text: ND04917 female unaffected Control sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: 23 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: In fibroblasts 58% have +8;mental retardation

characteristic: description

text: 47;XY;+8 29 /46;XY 21;47;XY;+8 29 /46;XY 21 .arr 8p23.3 q24.3(36385-146268947)x3;17q25.1(69343532-70188895)x3

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Aneuploid chromosome number - trisomy

text: Aneuploid chromosome number - trisomy 8

text: GM02030 male unaffected Aneuploid chromosome number - trisomy sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: Epilepsy

text: 47 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected sister is ND04919

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Epilepsy

text: Epilepsy, focal: caucasian

text: ND04918 male affected Epilepsy sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 5 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: XP2JO;Zulu;tongue tumor fibroblast culture;same patient as GM02035;similarly affected sib

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Black

text: Male

text: XPC

text: GM02032 male affected Xeroderma pigmentosum, complementation group c sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 58 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected sister of ND04918

text: sister

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND04919 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 16 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: XP3JO;Zulu;clinically affected;donor subject is homozygous G-to-A substitution at nucleotide 389 (389G>A) in exon 3 of the XPA gene which results in no splice site.

text: XPA

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Black

text: Male

text: XPA

text: GM02033 male affected Xeroderma pigmentosum, complementation group a sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: Epilepsy

text: 49 YR

text: B-Lymphocyte

text: NINDS Repository

text: GERMAN/SWEDISH/IRISH

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Epilepsy

text: ND04936 female affected Epilepsy sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: 28 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: XPH2JO;Zulu;2 affected sons;clinically unaffected

characteristic: description

text: mother

text: Homo sapiens

text: Black

text: Female

text: XPC

text: GM02034 female unaffected Xeroderma pigmentosum, complementation group c sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 55 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: SPANISH/MEXICAN/ITALIAN

characteristic: family id

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

characteristic: sex

text: Control

text: Population/convenience control

text: ND04937 male unaffected Control sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 5 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: XP2JO;Zulu;skin fibroblast culture;same patient as GM02032;similarly affected sib

text: proband

text: Homo sapiens

text: Black

text: Male

characteristic: tag

text: XPC

text: GM02035 male affected Xeroderma pigmentosum, complementation group c sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: Subarachnoid hemorrhage

text: 62 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Subarachnoid hemorrhage

text: ND04940 female affected Subarachnoid hemorrhage sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 11 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Skin biopsy;sister of GM02037C;46;XX;4% of cells show random chromosome loss

text: sister

characteristic: karyotype

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Apparently healthy non-fetal tissue

text: GM02036 female unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Intracranial aneurysm - unruptured

text: 52 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND04941 female affected Intracranial aneurysm - unruptured sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 13 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: 46;XY;skin biopsy;brother of GM02036A

characteristic: description

text: proband

text: 46;XY;46;XY;t(4;16)(4qter>4p14::16q24>16qter;16pter>16q24::4p14>4pter) 5 /46;XY 45

text: Homo sapiens

text: Caucasian

text: Male

text: Apparently healthy non-fetal tissue

text: GM02037 male unaffected Apparently healthy non-fetal tissue sample

characteristic: title


text: Coriell

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 65 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: sister

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Intracranial aneurysm unruptured: caucasian

text: Intracranial aneurysm - unruptured

text: ND04952 female affected Intracranial aneurysm - unruptured sample


characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Schizophrenia

text: 22 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Skin biopsy;onset of symptoms at age 6;suicide;same patient as GM02039

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Schizophrenia

text: SCZD

text: GM02038 male affected Schizophrenia sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 78 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Subarachnoid hemorrhage

characteristic: tag

text: ND04953 female affected Subarachnoid hemorrhage sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Schizophrenia

text: 22 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Liver biopsy fibroblast culture;same patient as GM02038;onset of symptoms at age 6;suicide

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Schizophrenia

text: SCZD

text: GM02039 male affected Schizophrenia sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: Subarachnoid hemorrhage

text: 72 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Subarachnoid hemorrhage

text: ND04954 male affected Subarachnoid hemorrhage sample


text: Coriell

text: live

text: Generic

text: 25 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Two affected children;heterozygote level of N-acetylglucosaminylphosphotransferase;clinically unaffected mother of GM03112G;GlcNAc-Phosphotransferase activity = 41% (measured as specific activity in cell lysate and reported as percentage of activity in normal fibroblasts);donor subject has one allele which has an insertion in exon 13 of the GNPTAB gene 2352delTinsAAA (2352T>AAA) resulting in a frameshift and truncation of the protein in the alpha subunit and no beta subunit L730fsX737;first nucleotide of the transcript used as number 1

characteristic: description

text: mother

text: GNPTAB

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: ML II

text: GNPTAB

text: Mucolipidosis ii

text: GM02046 female unaffected N-acetylglucosamine-1-phosphotransferase alpha/beta subunits sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 45 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Subarachnoid hemorrhage

text: ND04965 male affected Subarachnoid hemorrhage sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 26 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Two affected children;heterozygote level of N-acetylglucosaminylphosphotransferase;clinically unaffected father of GM03112G;GlcNAc-Phosphotransferase activity = 52% (measured as specific activity in cell lysate and reported as percentage of activity in normal fibroblasts);donor subject has one allele which has a 2-bp deletion in exon 19 of the GNPTAB gene 3665_3666delTC resulting in a frameshift and truncation of the protein in the beta subunit L1168fsX1172;first nucleotide of the transcript used as number 1

text: father

text: GNPTAB

text: 2-BP DEL

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: ML II

text: GNPTAB

text: Mucolipidosis ii

text: GM02047 male unaffected N-acetylglucosamine-1-phosphotransferase alpha/beta subunits sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Epilepsy

text: 9 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother is ND04970

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Epilepsy generalized: caucasian

characteristic: tag

text: Epilepsy

text: ND04969 female affected Epilepsy sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: Mucolipidosis iv

text: 2 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Ashkenazi;see GM02533A Lymph;affected sib is GM02529 Amniotic;photophobia;bilateral corneal opacities;abnormal lysosomal storage bodies;approximatley 28% of control neuraminidase activity employing GD1a and GD1b ganglioside

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Mucolipidosis iv

text: GM02048 female affected Mucolipidosis iv sample


text: Coriell

text: live

text: Generic

text: 41 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother of ND04969

characteristic: description

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND04970 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 39 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Arab;approximately 50% of normal alphamannosidase activity;2 affected children;clinically unaffected father of GM02050 and 02051;donor subject is heterozygous for an A>T transversion at nucleotide 212 in exon 2 of the MAN2B1 gene ( 212A>T) resulting in the substitution of leucine for histidine at codon 71 His71Leu (H71L)

text: father

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Mannosidosis alpha b, lysosomal

text: Mannosidase, alpha, class 2b member 1

text: GM02049 male unaffected Mannosidase, alpha, class 2b member 1 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: PD

text: 69 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected spouse is ND04980

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Parkinsons panel: caucasian from the united states

text: PD

text: Parkinson disease

text: ND04972 male affected PD sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Mannosidase, alpha, class 2b member 1

text: 11 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Variant;Arab;approximately 20% of normal alpha-mannosidase activity;donor subject is homozygous for an A>T transversion at nucleotide 212 in exon 2 of the MAN2B1 gene ( 212A>T) resulting in the substitution of leucine for histidine at codon 71 His71Leu (H71L)

text: ARABIAN

characteristic: ethnicity

text: brother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

characteristic: tag

text: Mannosidosis alpha b, lysosomal

text: Mannosidase, alpha, class 2b member 1

text: GM02050 male affected Mannosidase, alpha, class 2b member 1 sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: Parkinson disease

text: 61 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinson disease

text: ND04975 male affected Parkinson disease sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Mannosidase, alpha, class 2b member 1

text: 7 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Variant;Arab;approximately 20% of normal alpha-mannosidase activity;similarly affected brother;donor subject is homozygous for an A>T transversion at nucleotide 212 in exon 2 of the MAN2B1 gene ( 212A>T) resulting in the substitution of leucine for histidine at codon 71 His71Leu (H71L)

characteristic: description

text: ARABIAN

text: proband

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Mannosidosis alpha b, lysosomal

text: Mannosidase, alpha, class 2b member 1

text: GM02051 female affected Mannosidase, alpha, class 2b member 1 sample