characteristic: DNA id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Diabetes mellitus

text: 23 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Onset at age 11;HLA type A1;B8/A9;B18

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Diabetes mellitus

text: IDDM

text: Juvenile-onset insulin-dependent

text: GM03027 male affected Diabetes mellitus sample


status: PUBLIC

characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 16 YR

tag: attribute

characteristic: age

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Phenotypically normal;!Kung South African;marked deficiency of red cell adenosine deaminase;2-3% enzyme activity in RBCs;10-12% enzyme activity in leukocytes;and 10-30% enzyme activity in cultured fibroblasts;ADA enzyme present in sufficeint amounts in cell types to prevent accumulation of toxic metabolites and resulting immunodeficiency;enzyme has ADA 1 electrophoretic mobility;normal humoral and cellular immunity;enzyme phenotypes: 6PGD=A;ADA=1;Neutral A-glucosidase C=2;contains unstable ADA protein and 3-4 times the normal level of normal ADA mRNA;donor subject is homozygous for a C>T transition at nucleotide 698 of the ADA gene 698C>T (alternately described as 793C>T) resulting in a substitution of isoleucine for threonine at codon 233 Thr233Ile(T233I);same donor as GM03043 lymphocyte.

characteristic: description

text: !KUNG

characteristic: ethnicity

characteristic: family id

text: proband

text: ADA

characteristic: gene

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Black

characteristic: race

text: Male

characteristic: sex

text: Adenosine deaminase

characteristic: tag

text: ADA

text: GM03029 male unaffected Adenosine deaminase deficiency with no immunodeficiency sample

characteristic: title


characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Ichthyosis

text: 9 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Sterol sulfatase deficiency;normal RBC G6PD;Xg(a) antigen positive;see GM09852 (SV40 Transformed Fibroblast)

text: SARDINIAN

text: proband

text: 46;XY.ish del(X)(p22.3p22.3)(STS-)(DXZ1+);46;XY.ish del(X)(p22.3p22.3)(STS-;DXZ1+);46;XY.ish del(X)(p22.3p22.3)(STS-;DXZ1+).arr Xp22.31(6477901-6743904)x0

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: X-linked

text: Ichthyosis

text: GM03030 male affected Ichthyosis sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 47 YR

characteristic: age

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: G6PD(B)/G6PD(med);normal Sterol sulfatase

characteristic: description

text: SARDINIAN

text: mother

text: 46;XX.ish del(X)(p22.3p22.3)(STS-;DXZ1+)

text: Homo sapiens

text: Caucasian

text: Female

text: X-linked

text: Ichthyosis

text: GM03031 female unaffected Ichthyosis sample


text: Coriell

text: live

text: Generic

text: 66 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: G6PD(B)/G6PD(med);normal Sterol sulfatase;mother of 3 affected sons;proband not in Repository

text: SARDINIAN

characteristic: ethnicity

characteristic: family id

text: parent

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: X-linked

text: Ichthyosis

text: GM03033 female unaffected Ichthyosis sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Ichthyosis

text: 10 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Sterol sulfatase deficiency;G6PD(med);Xg(a) antigen absent

text: SARDINIAN

text: 46;XY.ish X(STS+;DXZ1+)

text: Homo sapiens

text: Caucasian

text: Male

text: X-linked

characteristic: tag

text: Ichthyosis

text: GM03034 male affected Ichthyosis sample

characteristic: title


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Ichthyosis

text: 20 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: SARDINIAN

text: proband

text: 46;XY.arr Xp22.31(6477901-7774557)x0;46;XY.ish del(X)(p22.3p22.3)(STS-);46;XY.ish del(X)(p22.3p22.3)(STS-;DXZ1+)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: X-linked

text: Ichthyosis

text: GM03035 male affected Ichthyosis sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Hemoglobin--alpha locus 2

text: 23 FW

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Alpha-thalassemia;fetal hydrops;Vietnamese;confirmed by cDNA hybridization and globin chain synthesis;skin fibroblast culture;same patient as GM03038;46;XY

text: VIETNAMESE

text: proband

text: Homo sapiens

text: Asian

text: Male

text: Hemoglobin--alpha locus 2

text: GM03037 male affected Hemoglobin--alpha locus 2 sample


text: Coriell

text: live

text: Generic

text: Hemoglobin--alpha locus 2

text: 23 FW

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Alpha-thalassemia;fetal hydrops;Vietnamese;confirmed by cDNA hybridization and globin chain synthesis;lung fibroblast culture;same patient as GM03037

characteristic: description

text: VIETNAMESE

characteristic: ethnicity

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Asian

text: Male

text: Hemoglobin--alpha locus 2

text: GM03038 male affected Hemoglobin--alpha locus 2 sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 10 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Gross failure to thrive;multiple congenital anomalies

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Recombinant chromosome

characteristic: tag

text: GM03039 male unaffected Recombinant chromosome sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Familial hypercholesterolemia

text: 9 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Receptor negative or defective;very high serum LDL;normal triglycerides;cutaneous and tendinous xanthomas;corneal arcus

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: FHC

text: Familial hypercholesterolemia

text: GM03040 male affected Familial hypercholesterolemia sample

characteristic: title


characteristic: DNA id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 16 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Phenotypically normal;!Kung South African;marked deficiency of red cell adenosine deaminase;2-3% enzyme activity in RBCs;10-12% enzyme activity in leukocytes;and 10-30% enzyme activity in cultured fibroblasts;ADA enzyme present in sufficeint amounts in cell types to prevent accumulation of toxic metabolites and resulting immunodeficiency;enzyme has ADA 1 electrophoretic mobility;normal humoral and cellular immunity;enzyme phenotypes: 6PGD=A;ADA=1;Neutral A-glucosidase C=2;contains unstable ADA protein and 3-4 times the normal level of normal ADA mRNA;donor subject is homozygous for a C>T transition at nucleotide 698 of the ADA gene 698C>T (alternately described as 793C>T) resulting in a substitution of isoleucine for threonine at codon 233 Thr233Ile(T233I);same donor as GM03029 fibroblast.

text: !KUNG

text: proband

text: ADA

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Black

text: Male

text: Adenosine deaminase

text: ADA

text: GM03043 male affected Adenosine deaminase deficiency with no immunodeficiency sample


text: Coriell

text: live

text: Generic

text: Smith-lemli-opitz syndrome

text: 2 WK

characteristic: age

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: 45;XY;t(13;14)(13qter>cen>14qter);unbalanced in fibroblasts;clinically affected;increased 7-dehydrocholesterol/cholesterol ratio

characteristic: description

text: 45;XY;der(13;14)(13qter>13q10::14q10>14qter)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: SLOS

text: Smith-lemli-opitz syndrome

text: GM03044 unknown affected Smith-lemli-opitz syndrome sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 5 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Psychomotor retardation;trigonencephaly;and multiple congenital anomalies

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Chromosome deletion

text: GM03047 male unaffected Chromosome deletion sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 23 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Ashkenazi;clinically unaffected;1 alpha chain allele has a splice junction mutation;neither alpha chain allele has a 4 bp insertion in exon 11;father of GM02968A

text: ASHKENAZI

characteristic: ethnicity

characteristic: family id

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Tay-sachs disease

characteristic: tag

text: TSD

text: GM03051 male unaffected Tay-sachs disease sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 24 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Ashkenazi;clinically unaffected;neither alpha chain allele has a splice junction mutation;1 alpha chain allele has a 4 bp insertion in exon 11;mother of GM02968A

text: ASHKENAZI

text: mother

text: HEXA

characteristic: gene

characteristic: mutation

text: 4-BP INS

text: Homo sapiens

text: Caucasian

text: Female

text: Tay-sachs disease

text: Hexosaminidase a

text: TSD

text: HEXA

text: GM03052 female unaffected TSD sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: POLH

text: 23 YR

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: XP2CH;56% of normal post UV light induced unscheduled DNA synthesis with normal strand incision;parents are 1st cousins;similarly affected sib;donor subject is homozygous for a C>T transition at nucleotide 376 of the POLH gene (376C>T) resulting in the substitution of a premature termination codon for valine at codon 125 Val125Ter (V125X)

characteristic: description

text: RUSSIAN/ARMENIAN

text: sister

text: POLH

text: Homo sapiens

text: Caucasian

text: Female

text: Polymerase

text: Xeroderma pigmentosum, variant type

text: ETA

text: DNA

text: POLH

text: XPV

text: GM03053 female affected POLH sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 50 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: XPH1CH;Russian-Armenian;normal unscheduled DNA synthesis and repair replication;2 affected children

text: RUSSIAN/ARMENIAN

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Xeroderma pigmentosum, variant type

text: XPV

text: GM03054 female unaffected Xeroderma pigmentosum, variant type sample


text: Coriell

text: live

text: Generic

text: POLH

text: 28 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: XP1CH;55% of normal unscheduled DNA synthesis with normal strand incision;parents are first cousins;similarly affected sib;donor subject is homozygous for a C>T transition at nucleotide 376 of the POLH gene (376C>T) resulting in the substitution of a premature termination codon for valine at codon 125 Val125Ter (V125X)

text: RUSSIAN/ARMENIAN

characteristic: ethnicity

characteristic: family id

text: proband

text: POLH

text: Homo sapiens

text: Caucasian

text: Male

text: Polymerase

characteristic: tag

text: Xeroderma pigmentosum, variant type

text: ETA

text: DNA

text: POLH

text: XPV

text: GM03055 male affected POLH sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Citrullinemia

text: 3 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Mild mental retardation;increased plasma citrulline;a sib died of citrullinemia;deficient ASS activity;no detectable enzyme antigen;possible compound heterozygote by mRNA analysis;same pt as GM01679;see GM01685 Lymphoid

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Citrullinemia

text: Classic

text: GM03056 male affected Citrullinemia sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Familial hypercholesterolemia

text: 29 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: No xanthomas;no clinical evidence of atherosclerosis;elevated plasma cholesterol;father of GM03040B

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: FHC

text: Familial hypercholesterolemia

text: GM03064 male affected Familial hypercholesterolemia sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Familial hypercholesterolemia

text: 30 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: No xanthomas;no clinical evidence of atherosclerosis;family history is strongly positive for early atherosclerosis and hypercholesterolemia;mother of GM03040B

characteristic: description

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: FHC

text: Familial hypercholesterolemia

text: GM03065 female affected Familial hypercholesterolemia sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 23 FW

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Deficient fibroblast beta-galactosidase and N-acetylglucosaminylphosphotransferase activity;similarly affected brother;GlcNAc-Phosphotransferase activity = 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 1-bp deletion in exon 8 of the GNPTAB gene 1012delA resulting in a frameshift and truncation of the protein in the alpha subunit and no beta subunit T284fsX288 and a second allele has a 1-bp deletion in exon 12 of the GNPTAB gene 1744delC resulting in a frameshift and truncation of the protein in the alpha subunit and no beta subunit C528fsX546 .

text: proband

text: GNPTAB

characteristic: gene

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: ML II

text: GNPTAB

text: Mucolipidosis ii

text: GM03066 female affected N-acetylglucosamine-1-phosphotransferase alpha/beta subunits sample


text: Coriell

text: live

text: Generic

text: Disaccharide intolerance i

text: 14 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Jejunal mucosa revealed no sucrase activity

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Disaccharide intolerance i

characteristic: tag

text: GM03070 male affected Disaccharide intolerance i sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Adenosine monophosphate deaminase 1

text: 14 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Skin fibroblast culture;muscle aching in all 4 extremities;elevated serum CPK;similarly affected 1st cousin;no detectable muscle ADA activity

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Adenosine monophosphate deaminase 1

text: GM03071 male affected Adenosine monophosphate deaminase 1 sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: Adenosine monophosphate deaminase 1

text: 14 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Muscle fibroblast culture;same patient as GM03071

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Adenosine monophosphate deaminase 1

text: GM03072 male affected Adenosine monophosphate deaminase 1 sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 38 YR

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Skin fibroblast culture;40% of normal muscle ADA activity;clinically unaffected mother of GM03071 and 03072

characteristic: description

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Adenosine monophosphate deaminase 1

text: GM03073 female unaffected Adenosine monophosphate deaminase 1 sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 38 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Muscle fibroblast culture;same patient as GM03073;clinically unaffected mother of GM03071 and 03072

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Adenosine monophosphate deaminase 1

text: GM03074 female unaffected Adenosine monophosphate deaminase 1 sample


text: Coriell

text: live

text: Generic

text: 58 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Skin fibroblast culture;70% of normal muscle ADA activity;clinically unaffected father of GM03071 & 03072

text: father

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Adenosine monophosphate deaminase 1

text: GM03075 male unaffected Adenosine monophosphate deaminase 1 sample


text: Coriell

text: live

text: Generic

text: 58 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Muscle fibroblast culture;same patient as GM03075

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Adenosine monophosphate deaminase 1

characteristic: tag

text: GM03076 male unaffected Adenosine monophosphate deaminase 1 sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 59 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: XPC

text: GM03080 male unaffected Xeroderma pigmentosum, complementation group c sample


text: Coriell

text: live

text: Generic

text: 54 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Mother of an affected child;proband not in Repository

text: Homo sapiens

text: Caucasian

text: Female

text: GM03083 female unaffected Xeroderma pigmentosum: complementation group undetermined sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 1 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Multiple congenital anomalies

text: FRENCH CANADIAN

characteristic: ethnicity

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Inverted chromosome

text: GM03085 male unaffected Inverted chromosome sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 3 WK

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Anomalies consistent with both trisomy 13 and 18

text: PUERTO RICAN

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Translocated chromosome

text: GM03089 female unaffected Translocated chromosome sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 23 FW

characteristic: cell line

text: Amniotic fluid-derived cell line

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Bilateral simian crease;incurving fifth finger;dislocated hip;46;XX;21q+;passage 2 at CCR

characteristic: description

text: Homo sapiens

text: Caucasian

text: Female

text: Marker chromosome

text: GM03090 female unaffected Marker chromosome sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 15 FW

text: Amniotic fluid-derived cell line

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: 47;XXY;see GM03102 Fibroblast

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: GM03091 male unaffected Aneuploid chromosome number - non-trisomic sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Tricarboxylic acid cycle

text: 4 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Pyruvate dehydrogenase complex deficiency (20% of control);severe diffuse neurologic disease and persistent lactic acidosis

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Tricarboxylic acid cycle

characteristic: tag

text: Defect of

text: GM03093 female affected Tricarboxylic acid cycle sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 18 FW

text: Amniotic fluid-derived cell line

text: NIGMS Human Genetic Cell Repository

text: 46;XX;t(9;17)(9pter>9p22::17p11>17qter;17pter>17p11::9p22>9qter)mat;mother is GM3119 Fibroblast

text: proband

text: 46;XX;t(9;17)(9qter>9p22::17p11>17pter;17qter>17p11::9p22>9pter)mat

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Translocated chromosome

text: GM03100 female unaffected Translocated chromosome sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 18 FW

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: See GM03091 Amniotic;Klinefelter's syndrome

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Klinefelter syndrome

text: Xxy syndrome

text: GM03102 male unaffected Aneuploid chromosome number - non-trisomic sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Homozygous HLA type: A:9;B:14;DR:4;DP:2;consanguineous parents;line WT51

characteristic: description

text: Homo sapiens

text: Caucasian

text: Male

text: GM03103 male unaffected HLA HISTOCOMPATIBILITY TYPE: 142800 THROUGH 142860 & 142880 sample


text: Coriell

text: live

text: Generic

text: Wolman disease

text: 22 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Liver lysosomal acid lipase < 5% of control and electrophoresis showed absence of A band;heterozygous for LIPA gene mutations c.894G>A(spl)and c.967_968delAG (p.S323Lfs*44)

text: IRISH/CANADIAN

characteristic: ethnicity

text: LIPA

characteristic: gene

text: Ex10 c.967_968delAG

characteristic: mutation

text: Ex8 c.894G>A(spl)

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Wolman disease

text: GM03111 male affected Wolman disease sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Mucolipidosis ii

text: 21 FW

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Brother was similarly affected;passage 10 at CCR;deficient fibroblast N-acetylglucosaminylphosphotransferase activity;donor subject is a compound heterozygote: one allele has a 1 bp deletion and a 3 bp insertion at nucleotide 2188 of the GNPTAB gene c.2188delT/insAAA and a second allele has a 2 bp deletion at nucleotide 3503 c.3503delTC of the GNPTAB gene start codon location within the transcript used as number 1;parental mutations (GM02046 and GM2047) were published in Am J Hum Genet 78(3):451-463;2006 using the first nucleotide of the transcript as number 1

text: proband

text: GNPTAB

text: 2-BP DEL

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: ML II

characteristic: tag

text: Mucolipidosis ii

text: GM03112 female affected Mucolipidosis ii sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: Lesch-nyhan syndrome

text: 19 FW

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Fetal kidney fibroblast culture;same fetus as GM03117

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: LNS

text: Lesch-nyhan syndrome

text: GM03116 male affected Lesch-nyhan syndrome sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Lesch-nyhan syndrome

text: 19 FW

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Fetal lung fibroblast culture;same fetus as GM03116A

characteristic: description

characteristic: family id

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: LNS

text: Lesch-nyhan syndrome

text: GM03117 male affected Lesch-nyhan syndrome sample


text: Coriell

text: live

text: Generic

text: 28 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Fetus is GM03100A Amniotic;history of several spontaneous abortions

text: mother

text: 46;XX;t(9;17)(9qter>9p22::17p11>17pter;17qter>17p11::9p22>9pter)

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Translocated chromosome

text: GM03119 female unaffected Translocated chromosome sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 9 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: See GM03124 Lymphoid;38% of normal sphingomyelinase activity;normal B-galactosidase activity;and impaired cholesterol esterification in fibroblasts;the donor subject is a compound heterozygote;one allele carries a missense mutation C>T at nucleotide 709 (709C>T) in exon 6 of the NPC1 gene;resulting in a substitution of a serine for a proline at codon 237 Pro237Ser (P237S);the second allele also carries a missense mutation T>C at nucleotide 3182 (3182T>C) in exon 21 which results in the substitution of a threonine for an isoluecine at codon 1061 Ile1061Thr (I1061T) in a transmembrane domain.

text: proband

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Npc1 gene

text: Niemann-pick disease type c1

text: GM03123 female affected NPC1 sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 9 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: See GM03123 Fibroblast;38% of normal sphingomyelinase activity;normal B-galactosidase activity;and impaired cholesterol esterification in fibroblasts;the donor subject is a compound heterozygote;one allele carries a missense mutation C>T at nucleotide 709 (C709T) in exon 6 of the NPC1 gene;resulting in a substitution of a serine for a proline at codon 237 Pro237Ser (P237S);the second allele also carries a missense mutation T>C at nucleotide 3182 (T3182C) in exon 21 which results in the substitution of a threonine for an isoluecine at codon 1061 Ile1061Thr (I1061T) in a transmembrane domain.

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Npc1 gene

characteristic: tag

text: Niemann-pick disease type c1

text: GM03124 female affected NPC1 sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: 7 DA

characteristic: age

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Multiple congenital abnormalities;slow growing culture

text: Homo sapiens

text: Caucasian

text: Male

text: Chromosome deletion

text: GM03125 male unaffected Chromosome deletion sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Chromosome deletion

text: 4 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Microcephaly;mental retardation;absent uterus;cervix;and upper vagina;ureteral reflux;otitis media;cyanotic congenital heart disease;46;XX;del inv(1)(pter >p13.1::q21.1>p13.1::q21.1>q42.3:);unbalanced

characteristic: description

text: 46;XX;der(1)(pter>p13.1::q21.1> p13.1::q21.1>q42.3:)

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Black

characteristic: race

text: Female

text: Chromosome deletion

text: Tetralogy of fallot

text: GM03126 female affected Chromosome deletion sample


characteristic: DNA id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Glycogen storage disease vii

text: 31 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Tarui's disease;muscle;fibroblasts and lymphoblasts deficient in phosphofructokinase M subunits;muscle weakness and myoglobinuria on exertion;mild erythrocytosis;decreased production of 2;3 diphosphoglycerate

text: JEWISH

characteristic: ethnicity

text: Homo sapiens

text: Caucasian

text: Male

text: Glycogen storage disease vii

text: GM03128 male affected Glycogen storage disease vii sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Metaphyseal dysplasia

text: 27 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Uninvolved skin;macular anetoderma of Schweninger and Buzzi;Jewish;same patient as GM03130

text: JEWISH

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Metaphyseal dysplasia

characteristic: tag

text: Anetoderma and optic atrophy

text: GM03129 female affected Metaphyseal dysplasia sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: Metaphyseal dysplasia

text: 27 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Involved skin;same patient as GM03129;macular anetoderma of Schweninger and Buzzi;Jewish

text: JEWISH

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Metaphyseal dysplasia

text: Anetoderma and optic atrophy

text: GM03130 female affected Metaphyseal dysplasia sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: DMPK

text: 18 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Bone deformities;muscle wasting and myotonia;expansion of CTG repeat is greater than or equal to 4.5 kb detectable by Southern analysis corresponding to up to 2000 CTG repeats

characteristic: description

text: DMPK

characteristic: gene

text: (CTG)n EXPANSION

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Dystrophia myotonica protein kinase

text: DMPK

text: Dystrophia myotonica 1

text: GM03132 male affected DMPK sample


characteristic: DNA id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 3 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Multiple congenital anomalies

text: 46;XY;del(8)(pter->q21::q22->qter).arr 8p23.1(7390680-7825266)x1;8q21.11q22.1(75018300-98185746)x1;12p13.33(2522540-2702660)x3;46;XY;del(8)(pter>q13::q22>qter)

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Chromosome deletion

text: GM03134 male unaffected Chromosome deletion sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 8 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;Sephardic Jewish;classical early onset severe form;ADA activity deficient in erythrocytes;fibroblasts;and lymphoblast culture;donor subject has one allele that has a T>C transition at nucleotide 320 in exon 4 of the ADA gene 320T>C resulting in a substitution of proline for leucine at codon 107 Leu107Pro (L107P) .

characteristic: family id

text: proband

text: ADA

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Severe combined immunodeficiency autosomal recessive

characteristic: tag

text: Adenosine deaminase

text: ADA

text: GM03136 female affected 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 package

text: 3 YR

characteristic: age

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Broken bones;opalescent teeth;blue sclerae;poor motor development;normal fibroblast alkaline phosphatase activity

text: Homo sapiens

text: Caucasian

text: Female

text: Non-lethal

text: GM03138 female affected Osteogenesis imperfecta: genetics uncertain sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Glucose-6-phosphate dehydrogenase

text: 8 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Hemolysis;RBC G6PD deficient;Greek;0.15 units G6PD in fibroblasts;G6PD mutation is 563C>T (Ser188Phe{S188F})

characteristic: description

text: GREEK

characteristic: ethnicity

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Glucose-6-phosphate dehydrogenase

text: GM03165 male affected Glucose-6-phosphate dehydrogenase sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

text: Glucose-6-phosphate dehydrogenase

text: 16 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Hemolysis;RBC G6PD deficient;Greek;0.10 units G6PD in fibroblasts;G6PD mutation is 563C>T (Ser188Phe{S188F})

text: GREEK

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Glucose-6-phosphate dehydrogenase

text: GM03171 male affected Glucose-6-phosphate dehydrogenase sample


characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Glucose-6-phosphate dehydrogenase

text: 39 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Favism;hemolysis;RBC G6PD deficient;Greek;G6PD mutation is 563C>T (Ser188Phe {S188F})

text: GREEK

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

characteristic: tag

text: Glucose-6-phosphate dehydrogenase

text: GM03172 female affected Glucose-6-phosphate dehydrogenase sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Glucose-6-phosphate dehydrogenase

text: 43 YR

characteristic: age

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Absent red cell G6PD;Greek;0.14 units G6PD in fibroblasts;G6PD mutation is 563C>T (Ser188Phe{S188F})

text: GREEK

text: Homo sapiens

text: Caucasian

text: Male

text: Glucose-6-phosphate dehydrogenase

text: GM03173 male affected Glucose-6-phosphate dehydrogenase sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Glucose-6-phosphate dehydrogenase

text: 40 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Absent red cell G6PD;Greek;0.13 units G6PD in fibroblasts;G6PD mutation is 563C>T (Ser188Phe{S188F})

characteristic: description

text: GREEK

characteristic: ethnicity

characteristic: gene

text: Homo sapiens

text: Caucasian

text: Female

text: Glucose-6-phosphate dehydrogenase

text: GM03174 female affected Glucose-6-phosphate dehydrogenase sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

text: Glucose-6-phosphate dehydrogenase

text: 36 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Hemolysis;RBC G6PD deficient;0.11 units G6PD in fibroblasts;Greek;G6PD mutation is 563C>T (Ser188Phe{S188F})

text: GREEK

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Glucose-6-phosphate dehydrogenase

text: GM03175 male affected Glucose-6-phosphate dehydrogenase sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 3 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: XP1AA;10-20% of normal UV induced unscheduled DNA synthesis

text: ASIAN

characteristic: family id

text: proband

text: Homo sapiens

text: Asiatic Indian

characteristic: race

text: Female

characteristic: sex

text: XPC

text: GM03176 female affected Xeroderma pigmentosum, complementation group c sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 2 YR

characteristic: age

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;possible heterozygote;normal level of UV induced unscheduled DNA synthesis

text: ASIAN

text: brother

text: Homo sapiens

text: Asiatic Indian

text: Male

characteristic: tag

text: XPC

text: GM03177 male unaffected Xeroderma pigmentosum, complementation group c sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 30 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: XPH1AA;Asian;normal level of UV induced unscheduled DNA synthesis;clinically unaffected

characteristic: description

text: ASIAN

characteristic: ethnicity

text: mother

text: Homo sapiens

text: Asiatic Indian

text: Female

text: XPC

text: GM03178 female unaffected Xeroderma pigmentosum, complementation group c sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

text: 32 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: XPH2AA;Asian;normal level of UV induced unscheduled DNA synthesis;clinically unaffected

text: ASIAN

text: father

text: Homo sapiens

text: Asiatic Indian

text: Male

text: XPC

text: GM03179 male unaffected Xeroderma pigmentosum, complementation group c sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 27 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Normal mucopolysaccharide accumulation;possible heterozygote;clinically unaffected sister of GM03181A

text: sister

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Mucopolysaccharidosis type ii

text: GM03180 female unaffected Mucopolysaccharidosis type ii sample


text: Coriell

text: live

text: Generic

text: Mucopolysaccharidosis type ii

text: 22 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Excessive mucopolysaccharide accumulation correctable by Hunter factor;2 similarly affected cousins

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Mucopolysaccharidosis type ii

text: GM03181 male affected Mucopolysaccharidosis type ii sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 40 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: ATH15Be;clinically normal;2 affected children;father of GM03189 and spouse of GM03188;see GM03488A Fibroblast;a 4bp insertion at nucleotide 1141 (1141ins4) in exon 11 results in a frameshift and truncation at codon 381 (S381X)

text: father

text: ATM

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: AT

text: Ataxia-telangiectasia

text: Ataxia-telangiectasia mutated gene

text: ATM

text: GM03187 male unaffected AT sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 36 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: ATH16Be;clinically normal;2 affected children;mother of GM03189 and spouse of GM03187;see GM03489A Fibroblast;an A>T substitution at nucleotide 8266 (8266A>T) in exon 58 causes a truncation at codon 2756 Lys2756ter (K2756X)

characteristic: description

text: mother

text: ATM

text: Homo sapiens

text: Caucasian

text: Female

text: AT

characteristic: tag

text: Ataxia-telangiectasia

text: Ataxia-telangiectasia mutated gene

text: ATM

text: GM03188 female unaffected AT sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

text: AT

text: 7 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: AT4Be;neurological abnormalities;similarly affected sib;see GM03487E Fibroblast;lymphoid culture shows hypersensitivity to X-irradiation;compound heterozygote;the maternal allele carries an A>T substitution at nucleotide 8266 (8266A>T) in exon 58 resulting in a truncation at codon 2756 Lys2756Ter (K2756X) and the paternal allele carries a 4bp insertion at nucleotide 1141 in exon 11 resulting in a frameshift at codon 381 leading to a truncation (S381fsX)

text: proband

text: ATM

text: Homo sapiens

text: Caucasian

text: Male

text: AT

text: Ataxia-telangiectasia

text: Ataxia-telangiectasia mutated gene

text: ATM

text: GM03189 male affected AT sample

characteristic: title


characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 17 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: B cell line;no HLA: A;B;or C;no B2 Microglobulin;HLA: D:6;line DAUDI;culture is negative for T cell 65;000 MW glycoprotein;positive for sIg and Ia (B cell) antigen;weak response to anti-HLA antibody

text: AFRICAN

characteristic: ethnicity

text: 46;XY;14q+;15q-/47;XY;+7;14q+;15q-;34%/66%;modal no. of 47 chromosomes;range is 43 to 50

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Black

text: Male

text: GM03190 male affected HLA HISTOCOMPATIBILITY TYPE: 142800 THROUGH 142860 & 142880 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 30 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Father of child with fatal;in utero onset form;proband not in Repository

text: SCOTTISH/IRISH

characteristic: family id

text: parent

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Phosphoethanolaminuria - 241500 or 241510

text: Hypophosphatasia

text: GM03191 male unaffected Hypophosphatasia sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 25 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Mother of child with fatal;in utero onset form;proband not in Repository

characteristic: description

text: SCOTTISH/IRISH

text: parent

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: Hypophosphatasia

text: GM03192 female unaffected Hypophosphatasia sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

text: 15 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Mild anisopoikilocytosis and mild oval macrocytosis;2 affected brothers and 3 affected maternal uncles;donor subject is hemizygous for an A>G transition at nucleotide 193 in exon 4 of the DKC1 gene resulting in the substitution of alanine for threonine at codon 66 Thr66Ala (T66A)

text: DUTCH/WELSH

text: proband

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Dyskeratosis congenita, x-linked

text: DKC

text: Dyskerin

text: GM03193 male affected DKC1 sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: 18 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: DUTCH/WELSH

characteristic: ethnicity

text: brother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Dyskeratosis congenita, x-linked

text: DKC

text: Dyskerin

text: GM03194 male affected DKC1 sample


text: Coriell

text: live

text: Generic

text: 19 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: DUTCH/WELSH

characteristic: family id

text: brother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Dyskeratosis congenita, x-linked

text: DKC

text: Dyskerin

text: GM03195 male affected DKC1 sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 31 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: See GM03197 Lymphoid;no hematological disorder;habitual aborter;normal phenotype

characteristic: description

text: proband

text: 46;XX;inv(5)(pter>p13::q13>p13::q13> qter);t(17;22)(17qter>17p13::22q11> 22qter;22pter>22q11::17p13>17pter)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Translocated chromosome

characteristic: tag

text: GM03196 female unaffected Translocated chromosome sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

text: 31 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: No hematological disorder;habitual aborter;normal phenotype;see GM03196 Fibroblast

text: proband

text: 46;XX;inv(5)(pter>p13::q13>p13:: q13>qter);t(17;22)(17qter>17p13:: 22q11>22qter;22pter>22q11::17p13>17pter)

text: Homo sapiens

text: Caucasian

text: Female

text: Translocated chromosome

text: GM03197 female unaffected Translocated chromosome sample

characteristic: title


characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: Fmr1 gene

text: 34 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: 46;fra(X)(q27);Y;17% in PBL and 7 to 50% of lymphoblasts using FudR;negative for FMR-1 gene expression;affected male by Southern analysis

characteristic: gene

text: 46;fra(X)(q27);Y 7 to 50% of cells show fra(X) with FudR

text: (CGG)n EXPANSION

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Fmr1 gene

text: Fragile x mental retardation syndrome

text: GM03200 male affected Fmr1 gene sample


text: Coriell

text: live

text: Generic

text: 26 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;absent neutral alpha glucosidase C activity;46;XY;10% of cells show random chromosome loss

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Apparently healthy non-fetal tissue

text: GM03201 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Meckel syndrome

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Skin biopsy;occipital encephalocele;polycystic kidneys;microcephaly;cultures from muscle and pericardium are also available;46;XX;9qh+

characteristic: description

characteristic: family id

text: proband

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: MKS

text: Meckel syndrome

text: GM03206 female affected Meckel syndrome sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

text: Dystonia musculorum deformans 2

text: 29 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Generalized dystonia;Ashkenazi;onset at age 10 years

text: ASHKENAZI

characteristic: ethnicity

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: Dystonia musculorum deformans 2

text: GM03208 male affected Dystonia musculorum deformans 2 sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: 49 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Focal (axial) dystonia;age of onset 41 years

text: Homo sapiens

text: Caucasian

text: Female

text: GM03209 female affected Dystonia musculorum deformans: type unknown sample


text: Coriell

text: live

text: Generic

text: 21 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Generalized dystonia;age of onset 2 years;negative family history

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: GM03210 male affected Dystonia musculorum deformans: type unknown sample


characteristic: DNA id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Dystonia 1, torsion

text: 30 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Generalized dystonia;Ashkenazi;onset at age 7 years;mother and sister are also affected

characteristic: description

text: ASHKENAZI

text: Homo sapiens

text: Caucasian

text: Male

text: Dystonia 1, torsion

text: GM03211 male affected Dystonia 1, torsion sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

text: 26 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Generalized dystonia;age of onset 12 years

text: Homo sapiens

text: Caucasian

text: Female

text: GM03213 female affected Dystonia musculorum deformans: type unknown sample


text: Coriell

text: live

text: Generic

text: 37 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Focal (spasmodic torticollis) dystonia;age of onset 35 years;negative family history

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: GM03214 male affected Dystonia musculorum deformans: type unknown sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 48 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Segmental dystonia;age of onset 44 years;negative family history

text: Homo sapiens

text: Caucasian

text: Female

text: GM03215 female affected Dystonia musculorum deformans: type unknown sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 64 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Focal (oral-mandibular) dystonia;age of onset 59 years;negative family history

text: Homo sapiens

text: Caucasian

text: Female

text: GM03216 female affected Dystonia musculorum deformans: type unknown sample


text: Coriell

text: live

text: Generic

text: 49 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Segmental dystonia;age of onset 41 years;negative family history

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: GM03217 male affected Dystonia musculorum deformans: type unknown sample


text: Coriell

text: live

text: Generic

text: Dystonia musculorum deformans 2

text: 25 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Generalized dystonia;similarly affected brother;onset at age 2 years

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Dystonia musculorum deformans 2

text: GM03218 male affected Dystonia musculorum deformans 2 sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 18 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Segmental dystonia;Ashkenazi;age of onset 10 years;negative family history

text: ASHKENAZI

characteristic: ethnicity

text: Homo sapiens

text: Caucasian

text: Male

text: GM03219 male affected Dystonia musculorum deformans: type unknown sample


text: Coriell

text: live

text: Generic

text: 35 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Focal (spasmodic torticollis) dystonia;age of onset 33 years;negative family history

text: Homo sapiens

text: Caucasian

text: Male

text: GM03220 male affected Dystonia musculorum deformans: type unknown sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Dystonia 1, torsion

text: 50 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Focal dystonia;father and grandfather are also affected;onset at age 43 years

characteristic: description

text: Homo sapiens

text: Caucasian

text: Female

text: Dystonia 1, torsion

text: GM03221 female affected Dystonia 1, torsion sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

text: 71 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Focal (spasmodic torticollis) dystonia;Ashkenazi;age of onset 67 years;negative family history

text: ASHKENAZI

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: GM03222 female affected Dystonia musculorum deformans: type unknown sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Adenomatous polyposis of the colon

text: 25 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: See GM03224 Lymphoid;normal sensitivity to MNNG produced loss of colony-forming ability;46;XY;8% of fibroblasts are 46;XY;t(1;10)(q32;p15);unbalanced;7% are polyploid;donor subject has a C>T change at nucleotide 1621 in exon 12 of the APC gene (1621C>T) resulting in the conversion of a glutamine at codon 541 to a stop codon Gln541Ter (Q541X)

characteristic: family id

text: son

text: APC

characteristic: gene

text: 46;XY;t(1;10)(1pter>1q32::10p15> 10pter;10qter>10p15::1q32>1qter) 4 /46;XY 46

characteristic: karyotype

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: APC

text: Adenomatous polyposis of the colon

text: GM03223 male affected Adenomatous polyposis of the colon sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: Adenomatous polyposis of the colon

text: 25 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: See GM03223 Fibroblast;46;XY;14% of cells show random chromosome loss;8% of cells show chromosome aberrations;donor subject has a C>T change at nucleotide 1621 in exon 12 of the APC gene (1621C>T) resulting in the conversion of a glutamine at codon 541 to a stop codon Gln541Ter (Q541X)

text: son

text: APC

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: APC

text: Adenomatous polyposis of the colon

text: GM03224 male affected Adenomatous polyposis of the colon sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 31 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: 36% 46;XX in lymphocytes;98% 46;XX in fibroblasts;short stature;mentally slow;see GM05066 Lymphoid

characteristic: description

text: TRINIDADIAN

characteristic: ethnicity

text: mother

text: 46;XX;t(3;20)(3qter->3p21::20q13.1->20qter;20pter->20q13.1::3p21->3pter) 3 /47;XX;+del(9)(pter->q11:) 1 /46;XX 46 .arr(1-22;X)x2;47;XX;+del(9)(9pter>9q11:) 1 /46;XX 49

text: Homo sapiens

text: Black

text: Female

text: Aneuploid chromosome number - trisomy

text: Aneuploid chromosome number - trisomy 9

text: GM03225 female unaffected Aneuploid chromosome number - trisomy sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

text: Aneuploid chromosome number - trisomy

text: 9 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Multiple malformations and mental retardation;see GM05067A Lymphoid

text: TRINIDADIAN

characteristic: family id

text: proband

text: 47;XY;+del(9)(9pter->9p13.1:)mat.arr 9p24.3P13.1(36586-40085483)x3;47;XY;+del(9)(9pter>9q11:)mat

characteristic: karyotype

text: Homo sapiens

text: Black

text: Male

text: Aneuploid chromosome number - trisomy

characteristic: tag

text: Aneuploid chromosome number - trisomy 9

text: GM03226 male affected Aneuploid chromosome number - trisomy sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: 1 WK

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Congenital malformations;88% of cells are 46;XY;r(14) at passage 4

text: 46;XY;r(14) 44 /45;XY;-14 6

text: Homo sapiens

text: Caucasian

text: Male

text: Ring chromosome

text: GM03233 male unaffected Ring chromosome sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 23 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Pima Indian;skin biopsy (medial forearm);46;XY;12% of cells show random chromosome abnormalities

text: PIMA

text: Homo sapiens

characteristic: organism

text: American Indian

characteristic: race

text: Male

characteristic: sex

text: Apparently healthy non-fetal tissue

text: GM03234 male unaffected Apparently healthy non-fetal tissue sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Diabetes mellitus

text: 14 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: HLA type A3;Bw17/A9(23);B12;onset at age 6 years;on Insulin;see GM03358 Fibroblast;father is also affected

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Diabetes mellitus

text: IDDM

text: Juvenile-onset insulin-dependent

text: GM03235 male affected Diabetes mellitus sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

text: Diabetes mellitus

text: 42 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: HLA type A9(23);B12/A28;Bw15;onset at age 14 years;on Insulin;see GM03360 Fibroblast;son is also affected

characteristic: family id

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Diabetes mellitus

text: IDDM

text: Juvenile-onset insulin-dependent

text: GM03236 male affected Diabetes mellitus sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: 16 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: HLA type A3;Bw17/A28;Bw15;non-diabetic;see GM03361B Fibroblast;affected brother and father

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Diabetes mellitus

characteristic: tag

text: IDDM

text: Juvenile-onset insulin-dependent

text: GM03237 male unaffected Diabetes mellitus sample


text: Coriell

text: live

text: Generic

text: 40 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: HLA type A1;Bw40/A3;Bw17;non-diabetic;see GM03362 Fibroblast

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Diabetes mellitus

text: IDDM

text: Juvenile-onset insulin-dependent

text: GM03238 female unaffected Diabetes mellitus sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 13 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: HLA type A3;Bw17/A9(23);B12;non-diabetic;see GM03359 Fibroblast;affected father and brother

text: brother

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Diabetes mellitus

text: IDDM

text: Juvenile-onset insulin-dependent

text: GM03239 male unaffected Diabetes mellitus sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 7 DA

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Microcephaly and other congenital anomalies

text: 46;XY;del(7)(pter->q35:).arr 3q12.2(101822745-101925168)x4;7p22.3(52898-2019558)x3;7q35q36.3(144641514-158812469)x1;8p23.1(7202916-7825360)x1;46;XY;del(7)(pter>q34:)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Chromosome deletion

text: GM03240 male unaffected Chromosome deletion sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 10 MO

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Multiple congenital anomalies;both parents have normal karyotypes

characteristic: description

text: 45;XX;der(10)(10pter->10q11.2::10q22->10q26::13q12->13qter);-13.arr 10q11.23q22.2(52018899-75823320)x1;10q26.2q26.3(129402100-135356682)x1;45;XX;der(10)(10pter> 10q26::13q12>13qter);-13

text: Homo sapiens

text: Caucasian

text: Female

text: Translocated chromosome

text: GM03241 female unaffected Translocated chromosome sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Multiple sulfatase deficiency

text: 9 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: See GM03246 Lymphoid;microcephaly;delayed psychomotor develop;hypotonia;blind;deaf;and myoclonus;excess heparan sulfate in urine;deficient leukocyte arylsulfatase A;B and C;reduced arylsulfatase A;B and C activity in fibroblasts

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Multiple sulfatase deficiency

text: GM03245 male affected Multiple sulfatase deficiency sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Multiple sulfatase deficiency

text: 9 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: See GM03245 Fibroblast;microcephaly;delayed psychomotor development;hypotonia;weakness;blind;deaf;and myoclonus;deficient arylsulfatase A;B;and C in leukocytes;excess mucopolysaccharides in urine (mostly heparan sulfate)

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Multiple sulfatase deficiency

characteristic: tag

text: GM03246 male affected Multiple sulfatase deficiency sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: XPD

text: 5 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: XP-CS2;child showed features of Cockayne syndrome;46;XY;10% of cells show random chromosome loss/gain;XP skin changes in areas exposed to light;neurological manifestations;30 to 50% of normal post UV induced unscheduled DNA synthesis;and 30% of normal post UV induced DNA incision activity;at the cellular level this culture has between 30 and 52% of control unscheduled DNA synthesis after UVB radiation (Moshell et al J. Cell. Biochem.;Suppl. 7B:202 Abstr;1983;Johnson and Squires Mutat. Res. DNA Repair;273:97-118;1992);donor subject has a single expressed allele for the ERCC2 gene which carries a G-to-A substitution at nucleotide 1805 (1805G>A) resulting in a gly602-asp change Gly602Asp (G602D) in the protein;see GM03249 Lymphoid

text: FRENCH

characteristic: ethnicity

text: proband

characteristic: gene

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Xeroderma pigmentosum, complementation group d

text: XPD

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

text: GM03248 male affected XPD sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: XPD

text: 5 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: XP-CS2;child showed features of Cockayne syndrome;XP skin changes in areas exposed to light;neurological manifestations;donor subject has a single expressed allele for the ERCC2 gene which carries a G-to-A substitution at nucleotide 1805 (1805G>A) resulting in a gly602-asp change Gly602Asp (G602D) in the protein;see GM03248 Fibroblast

text: FRENCH

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: XPD

text: GM03249 male affected XPD sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Gangliosidosis generalized gm1 type i

text: 4 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Normal N-acetylgalactosamine 6-sulfate sulfatase activity;less than 4% of control B-galactosidase activity using either 4MU-B-gal or GM1 ganglioside;donor subject is a compound heterozygote with two mutations in the GLB1 gene: Trp273Leu (W273L)/Trp509Cys (W509C)

characteristic: description

text: Homo sapiens

text: Caucasian

text: Female

text: Gangliosidosis generalized gm1 type i

text: Mucopolysaccharidosis type ivb

text: GM03251 female affected Gangliosidosis generalized gm1 type i sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Niemann-pick disease type b

text: 21 FW

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: 2% of normal sphingomyelinase activity and deficient phospholipase C activity in fibroblasts;similarly affected brother;type B;donor subject has one allele with a T>C transition at nucleotide 905 in exon 2 of the SMPD1 gene 905T>C resulting in a substitution of proline for leucine at codon 302 Leu302Pro (L302P) .

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: Niemann-pick disease type b

text: Sphingomyelin phosphodiesterase 1, acid lysosomal

text: GM03252 female affected Niemann-pick disease type b sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 3 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Partial trisomy 8(p);growth retardation;dysmorphic features;skeletal abnormalities;congenital heart defect

characteristic: family id

text: proband

text: 46;XY;der(15)t(8;15)(15pter->15q26::8p21->8pter)mat.arr 8p23.3p21.1(36385-28569584)x3;15q26.3(96644076-100276767)x1;46;XY;der(15)t(8;15)(15pter> 15q26::8p21>8pter)mat

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Translocated chromosome

text: GM03255 male unaffected Translocated chromosome sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 25 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically normal

text: mother

text: 46;XX;t(8;15)(8qter>8p21::15q26>15qter;15pter>15q26::8p21>8pter)

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Translocated chromosome

text: GM03256 female unaffected Translocated chromosome sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 17 FW

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: At risk (50%);46;XY;a brother was affected;pedigree shows multiple affected individuals

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: OCRL

text: Lowe oculocerebrorenal syndrome

text: GM03265 male unaffected Lowe oculocerebrorenal syndrome sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 10 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinodactyly;short neck;bulbous nose;low set ears

characteristic: description

text: 46;XY;+der(9)(9pter>9p10::21q10>21qter);-21

text: Homo sapiens

text: Black

text: Male

text: Translocated chromosome

text: GM03268 male unaffected Translocated chromosome sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Ichthyosis

text: 34 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Sardinian;G6PD normal;Xg(a) negative;< 5% of normal fibroblast steroid sulfatase activity;normal arylsulfatase A and B activity;DNA does not hybridize STS-3 cDNA gene probe

text: SARDINIAN

characteristic: ethnicity

text: 46;XY;t(3;12)(12qter->?12q15::?3p14->3qter;12pter->?12q15::?3p14->3pter) 19 /46;XY 1 .ish del(X)(p22.3p22.3)(STS-;DXZ1+).arr Xp22.31(6477901-8095645)x0;2q13(110206510-110340958)x1;8p23.1(7254762-7386389)x3;46;XY;t(3;12)(p14;q15) or (p13;q14) .ish del(X)(pter>p22.3::p22.3>qter)(STS-;DXZ1+) 52 /46;XY.ish del(X)(pter>p22.3::p22.3>qter)(STS-;DXZ1+) 48;46;XY 1 /46;XY;t(3;12)(p14;q15) or (p13;q14) 19 .ish del(X)(pter>p22.3::p22.3>qter)(STS-;DXZ1+)

text: Homo sapiens

text: Caucasian

text: Male

text: X-linked

text: Ichthyosis

text: GM03273 male affected Ichthyosis sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Ichthyosis

text: 13 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Sardinian;G6PD deficient;Xg(a) positive;< 5% of normal fibroblast steroid sulfatase activity;normal arylsulfatase A and B activity;DNA does not hybridize STS-3 cDNA gene probe

text: SARDINIAN

text: 46;XY.arr Xp22.31(6477901-7774557)x0;46;XY.ish del(X)(pter>p22.3::p22.3>qter)(STS-;DXZ1+)

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: X-linked

characteristic: tag

text: Ichthyosis

text: GM03276 male affected Ichthyosis sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Ichthyosis

text: 15 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Sardinian;G6PD normal;Xg(a) positive;sterol sulfatase deficient

text: SARDINIAN

text: 46;XY.ish del(X)(pter>p22.3::p22.3>qter)(STS-;DXZ1+)

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: X-linked

text: Ichthyosis

text: GM03277 male affected Ichthyosis sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Ichthyosis

text: 26 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: SARDINIAN

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: X-linked

text: Ichthyosis

text: GM03278 male affected Ichthyosis sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Ichthyosis type unknown

text: 46 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Sardinian;G6PD normal;Xg(a) positive;normal sterol sulfatase;same patient as GM16784 Lymphoid

characteristic: description

text: SARDINIAN

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Ichthyosis type unknown

text: GM03280 male affected Ichthyosis type unknown sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 48 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Sardinian;G6PD(med);Xg(a)-/ G6PD(B);Xg(a)+;normal sterol sulfatase;FISH analysis with steroid sulfatase gene probe showed that neither X chromosome was deleted

text: SARDINIAN

characteristic: ethnicity

text: 46;XX.ish X(STSx2;DXZ1x2)

text: Homo sapiens

text: Caucasian

text: Female

text: X-linked

text: Ichthyosis

text: GM03281 female unaffected Ichthyosis sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 37 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Sardinian;G6PD(B);Xg(a)-/G6PD(med);Xg(a)+;normal sterol sulfatase

text: SARDINIAN

text: 46;XX.ish del(X)(p22.3p22.3)(STS-;DXZ1+)

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: X-linked

characteristic: tag

text: Ichthyosis

text: GM03283 female unaffected Ichthyosis sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Ichthyosis

text: 27 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: SARDINIAN

text: 46;XY;t(1;15)(1pter>1q44::15q11.1>15qter;15pter>15q11.1::1q44>1qter).ish del(X)(STS-);t(1;15)(D1S3738-;D15S11+;D15Z-;D1S3738+;D15S11-;D15Z+)

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: X-linked

text: Ichthyosis

text: GM03289 male affected Ichthyosis sample

characteristic: title


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Ichthyosis

text: 60 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: SARDINIAN

text: 46;XY.ish del(X)(p22.3p22.3)(STS-;DXZ1+);46;XY.ish del(X)(p22.3p22.3)(STS-;DXZ1+).arr Xp22.31(6477901-8095645)x0;8p23.1(7673035-7814028)x1

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: X-linked

text: Ichthyosis

text: GM03291 male affected Ichthyosis sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Basal cell nevus syndrome

text: 11 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Jaw cysts;cleft lip and palate;mental retardation;multiple nevi

characteristic: description

text: Homo sapiens

text: Caucasian

text: Female

text: BCNS

text: Basal cell nevus syndrome

text: GM03300 female affected Basal cell nevus syndrome sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 28 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;proband not in Repository

characteristic: family id

text: parent

text: 46;XY;t(5;9)(5pter>5q33::9p24>9pter;9qter>9p24::5q33>5qter)

text: Homo sapiens

text: Caucasian

text: Male

text: Translocated chromosome

text: GM03305 male unaffected Translocated chromosome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 40 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Skin fibroblast culture;46;XY/45;X;(76%/24%);clinically unaffected

text: father

text: 45;X 12 /46;XY 38

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Rb1 osteosarcoma, retinoblastoma-related included

characteristic: tag

text: Retinoblastoma

text: GM03313 male unaffected Retinoblastoma sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Adenomatous polyposis of the colon

text: 48 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: English;adenocarcinoma of colon;see GM03315A Lymphoid;hypersensitivity to MNNG produced loss of colony-forming ability;46;XX/46;XX;t(5;15)(5pter> 5q22::15q26>15qter;15pter>15q26::5q22> 5qter);40%/60%;14% are polyploid at P5;donor subject has a C>T change at nucleotide 1621 in exon 12 of the APC gene (1621C>T) resulting in the conversion of a glutamine at codon 541 to a stop codon Gln541Ter (Q541X)

text: ENGLISH

characteristic: ethnicity

text: proband

text: APC

characteristic: gene

text: 46;XX/46;XX;t(5;15)(5pter>5q22::15q26> 15qter;15pter>15q26::5q22>5qter)

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: APC

text: Adenomatous polyposis of the colon

text: GM03314 female affected Adenomatous polyposis of the colon sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Adenomatous polyposis of the colon

text: 48 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: See GM03314 Fibro;adenocarcinoma of colon;5 affected children;3 affected sibs;and 2 affected cousins;46;XX;16% of cells show random chromosome loss;20% polyploid;4% of cells show chromosome breakage;donor subject has a C>T change at nucleotide 1621 in exon 12 of the APC gene (1621C>T) resulting in the conversion of a glutamine at codon 541 to a stop codon Gln541Ter (Q541X)

text: ENGLISH

text: proband

text: APC

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: APC

text: Adenomatous polyposis of the colon

text: GM03315 female affected Adenomatous polyposis of the colon sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 3 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: South American;normal X is late replicating;global retardation (GQ = 60);with bizarre dysmorphology syndrome including epicanthus;hypertelorism;oblique palpebral fissures;trigonocephaly and micrognathia;at 5 years of age her GQ corresponded to that of a girl of almost 3 years old;she has a good memory and when she wishes she can feed herself;she got control of her sphincters both day and night by age 3 and a half;her vocabulary is progressing well;she is shy and easily frightened;she is clumsy with hands and legs;she presents 3 dental carries;her principal problem is the lack of concentration;see GM02859A Fibroblast

characteristic: description

text: SOUTH AMERICAN

characteristic: family id

text: proband

text: 46;X;t(X;11)(Xpter->Xq11.1::11p13->11pter;Xqter->Xq11.1::11p11.2->11qter).arr 11p12p11.2(43125216-46707101)x1;46;X;t(X;11)(Xpter>Xq11.1::11p13>11pter;11qter>11p11.2::Xq11.1>Xqter)

text: Homo sapiens

text: Caucasian

text: Female

text: Translocated chromosome

text: GM03316 female unaffected Translocated chromosome sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Coffin-lowry syndrome

text: 8 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: See GM03318 Fibroblast;mental retardation;coarse facies;positive family history

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Coffin-lowry syndrome

characteristic: tag

text: CLS

text: GM03317 male affected Coffin-lowry syndrome sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Coffin-lowry syndrome

text: 8 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: See GM03317 Lymphoid;mental retardation;coarse facies;positive family history;46;XY

text: proband

characteristic: karyotype

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Coffin-lowry syndrome

text: CLS

text: GM03318 male affected Coffin-lowry syndrome sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Neuroblastoma

text: 1 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: IMR-32;ATCC CCL 127;fibroblast and neuroblast-like cell culture;G6PD type B;hyperdiploid;short arm of chromosome #1 shows an HSR

text: Homo sapiens

text: Caucasian

text: Male

text: Nbs included

text: Nb neuroblastoma suppressor included

text: Neuroblastoma

text: GM03320 male affected Neuroblastoma sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: Ring chromosome

text: 11 DA

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Greek;bilateral cleft lip and palate;microcephaly;microphthalmos;hypertelorism;16% of cells have a fragment and no r(13)

text: GREEK

characteristic: ethnicity

text: 46;XX;r(13);46;XX;r(13)(::p13->q34::).arr 13q31.1q34(86341812-114126487)x1;15q13.3(30245952-30436012)x1

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Ring chromosome

text: GM03321 female affected Ring chromosome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 35 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Phenotypically normal;normal menses;H-Y antigen negative;3 offspring;1 has the unbalanced translocation;normal X is late replicating

characteristic: description

text: 46;X;t(X;11)(Xpter>Xq22::11q13>11qter;11pter>11q13::Xq22>Xqter)

text: Homo sapiens

text: Caucasian

text: Female

text: Translocated chromosome

text: GM03322 female unaffected Translocated chromosome sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 6 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Possible heterozygote;clinically normal;see GM03492 Fibroblast

characteristic: family id

text: brother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: AT

characteristic: tag

text: Ataxia-telangiectasia

text: GM03323 male unaffected Ataxia-telangiectasia sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 15 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Possible heterozygote;clinically normal;see GM03490 Fibroblast

text: sister

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: AT

text: Ataxia-telangiectasia

text: GM03324 female unaffected Ataxia-telangiectasia sample

characteristic: title


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 14 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Possible heterozygote;clinically normal;see GM03491 Fibroblast

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: AT

text: Ataxia-telangiectasia

text: GM03325 female unaffected Ataxia-telangiectasia sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 25 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Passage 4 at CCR;2 affected children

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Phosphoethanolaminuria - 241500 or 241510

text: Hypophosphatasia

text: GM03327 male unaffected Hypophosphatasia sample


text: Coriell

text: live

text: Generic

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Passage 4 at CCR;2 affected children

characteristic: description

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Hypophosphatasia

text: GM03328 female unaffected Hypophosphatasia sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Glucosidase acid alpha

text: 2 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Infantile onset;normal size (3.6 kb) and amount of mRNA for GAA;GAA protein detected by antibody;but deficient acid-alpha-1;4 glucosidase (0.35%);hypotonia;donor subject is a compound heterozygote with only one allele expressed: allele one carries a A>G transition at nucleotide 1555 (1555A>G) in exon 11 which results in a substitution of valine for methionine at codon 519 Met519Val (M519V);allele two (the silent allele) contains a G>A transition at the first nucleotide of intron 8 (IVS8+1G>A) of the GAA gene which results in a splicing defect at the 5 donor site;this rare allele was also found in GM12932 and 18 polymorphisms in the GAA gene were identical in both lines suggesting common ancestry (Raben et al. Hum. Mutat. 13:83-84 (1999) .

text: GAA

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Black

text: Male

text: Glucosidase acid alpha

text: GAA

text: Glycogen storage disease ii

text: GM03329 male affected Glucosidase acid alpha sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 1 DA

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Multiple congenital anomalies

text: 47;XY;+13;47;XY;+13.arr 6q26(162648935-162834267)x3;13q11q34(17943627-114126487)x3

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Aneuploid chromosome number - trisomy 13

characteristic: tag

text: Aneuploid chromosome number - trisomy

text: GM03330 male unaffected Aneuploid chromosome number - trisomy sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: AT

text: 13 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;same donor as GM03395 Fibroblast;a deceased sister also had AT;lymphoid culture shows hypersensitivity to X-irradiation;parents are GM03334 and GM03382;donor subject is homozygous for a G>A transition at nucleotide 7913 in exon 55 of the ATM gene (7913G>A) resulting in a substitution of a termination codon for tryptophan at codon 2638 Trp2638Ter (W2638X)

characteristic: family id

text: proband

text: ATM

text: Homo sapiens

text: Black

characteristic: race

text: Male

text: AT

text: Ataxia-telangiectasia

text: Ataxia-telangiectasia mutated gene

text: ATM

text: GM03332 male affected AT sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 11 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically unaffected;possible heterozygote;2 affected sibs;see GM03400 Fibroblast

text: sister

text: Homo sapiens

text: Black

text: Female

characteristic: sex

text: AT

text: Ataxia-telangiectasia

text: GM03333 female unaffected Ataxia-telangiectasia sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 42 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;2 affected children including GM03332;same donor as GM03396 Fibroblast;donor subject has a G>A transition at nucleotide 7913 in exon 55 of the ATM gene (7913G>A) resulting in a substitution of a termination codon for tryptophan at codon 2638 Trp2638Ter (W2638X) on one allele

characteristic: description

text: mother

text: ATM

characteristic: gene

text: Homo sapiens

text: Black

text: Female

text: AT

text: Ataxia-telangiectasia

text: Ataxia-telangiectasia mutated gene

text: ATM

text: GM03334 female unaffected AT sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Hypophosphatasia

text: 20 FW

text: Amniotic fluid-derived cell line

text: NIGMS Human Genetic Cell Repository

text: 46;XX;severe in utero onset form;deficient alkaline phosphatase;passage 5 at CCR;parents are GM03327 and GM03328 Fibroblast;see also GM03502 Fibroblast

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Hypophosphatasia

text: GM03336 female affected Hypophosphatasia sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Wolman disease

text: 7 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Mexican;approximately 5% of control level of acid lipase activity

text: MEXICAN

characteristic: ethnicity

text: Homo sapiens

text: Caucasian

text: Female

text: Wolman disease

characteristic: tag

text: GM03347 female affected Wolman disease sample


characteristic: External Id

text: Coriell

characteristic: INSDC secondary accession

text: live

text: Generic

characteristic: NCBI submission package

characteristic: SRA accession

text: 10 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Skin biopsy (inguinal);46;XY

characteristic: karyotype

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Apparently healthy non-fetal tissue

text: GM03348 male unaffected Apparently healthy non-fetal tissue sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 10 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Skin biopsy;46;XY

characteristic: description

text: Homo sapiens

text: Black

text: Male

characteristic: sex

text: Apparently healthy non-fetal tissue

text: GM03349 male unaffected Apparently healthy non-fetal tissue sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 25 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Non-diabetic;HLA type A2;Bw16/A3;B7;see GM01910 Fibroblast;4 affected sibs

characteristic: family id

text: sister

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Diabetes mellitus

text: IDDM

text: Juvenile-onset insulin-dependent

text: GM03354 female unaffected Diabetes mellitus sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 53 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Non-diabetic;HLA type A2;Bw16/A10;Bw16;4 affected children;see GM01877 Fibro

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Diabetes mellitus

characteristic: tag

text: IDDM

text: Juvenile-onset insulin-dependent

text: GM03356 male unaffected Diabetes mellitus sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Diabetes mellitus

text: 15 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Onset at age 14;on Insulin;positive family history;see GM03235 Lymphoid

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Diabetes mellitus

text: IDDM

text: Juvenile-onset insulin-dependent

text: GM03358 male affected Diabetes mellitus sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 13 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Non-diabetic;father and brother are diabetic;see GM03239 Lymphoid

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Diabetes mellitus

text: IDDM

text: Juvenile-onset insulin-dependent

text: GM03359 male unaffected Diabetes mellitus sample


text: Coriell

text: live

text: Generic

text: Diabetes mellitus

text: 43 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Onset at age 14;on Insulin;see GM03236 Lymphoid

characteristic: description

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Diabetes mellitus

text: IDDM

text: Juvenile-onset insulin-dependent

text: GM03360 male affected Diabetes mellitus sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: 41 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Non-diabetic;spouse and son are diabetic;see GM03238B Lymphoid

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Diabetes mellitus

text: IDDM

text: Juvenile-onset insulin-dependent

text: GM03362 female unaffected Diabetes mellitus sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Chediak-higashi syndrome

text: 27 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Albinism;recurrent skin infections;neuropathy;mild mental retardation

text: Homo sapiens

text: Caucasian

text: Male

text: Lyst included

text: Chediak-higashi syndrome

text: Chs1 lysosomal trafficking regulator included

text: GM03365 male affected Chediak-higashi syndrome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 16 FW

text: Amniotic fluid-derived cell line

text: NIGMS Human Genetic Cell Repository

text: Balanced;46;XX;inv(18)(pter>p11::q21> p11::q21>qter)pat

text: 46;XX;inv(18)(pter>p11::q21>p11:: q21>qter)pat

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Asian

text: Female

text: Inverted chromosome

text: GM03367 female unaffected Inverted chromosome sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: Xy female - 306100 or 233420

text: 17 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Pure gonadal dysgenesis;46;XY;? H-Y antigen;right gonadal tissue (GM03368);positive for TDF gene sequences (ZFY);a cell line from this same donor is also available from a left gonadal streak (GM03368A)

characteristic: family id

text: proband

text: Homo sapiens

text: Black

text: Female

text: Xy female - 306100 or 233420

characteristic: tag

text: GM03368 female affected Xy female - 306100 or 233420 sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 23 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Developmental delay;similarly affected sister

text: proband

text: 46;XX;der(1)(1pter->1q44::10p12->10pter)mat.arr 1q44(246875179-247190999)x1;9p24.3(226074-389040)x3;10p15.3p12.1(62796-26719775)x3;46;XX;der(1)(1pter>1q44:: 10p11>10pter)mat

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Translocated chromosome

text: GM03369 female unaffected Translocated chromosome sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 42 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically normal;two daughters have the unbalanced translocation

characteristic: description

text: mother

text: 46;XX;t(1;10)(1pter>1q44::10p11>10pter;10qter>10p11::1q44>1qter)

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Translocated chromosome

text: GM03370 female unaffected Translocated chromosome sample