text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 5 WK

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Partial trisomy 22;developmental delay

text: proband

text: 47;XX;inv(9)(pter>p11::q13>p11::q13>qter)pat;+der(22)(22pter>22q11::11q23>11qter)mat

text: Homo sapiens

text: Black

text: Female

text: Translocated chromosome

text: GM03371 female unaffected Translocated chromosome sample


status: PUBLIC

characteristic: External Id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: 28 YR

tag: attribute

characteristic: age

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically normal

characteristic: description

characteristic: family id

text: mother

text: 46;XX;t(11;22)(11pter>11q23::22q11> 22qter;22pter>22q11::11q23>11qter)

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Black

characteristic: race

text: Female

characteristic: sex

text: Translocated chromosome

characteristic: tag

text: GM03372 female unaffected Translocated chromosome sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 19 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: 46;XY;skin biopsy (forearm);2% of cells show random chromosomal aberrations

text: Homo sapiens

text: Caucasian

text: Male

text: Apparently healthy non-fetal tissue

text: GM03377 male unaffected Apparently healthy non-fetal tissue sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: POLH

text: 86 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: XP5MA;pigmented xerodermoid;XP variant;apparently normal excision repair and a hypersensitive response of semiconservative DNA replication to UV damage;3 similarly affected sibs;donor subject is homozygous for a 104 bp deletion at nucleotides 661_764 of the POLH gene (661_764del) resulting in a frameshift at Lys220 Lys220fs

text: proband

text: POLH

characteristic: gene

characteristic: mutation

text: 104 BP DEL

text: Homo sapiens

text: Caucasian

text: Female

text: Polymerase

text: Xeroderma pigmentosum, variant type

text: ETA

text: DNA

text: POLH

text: XPV

text: GM03379 female affected POLH sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 20 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically unaffected;possible heterozygote;2 affected sibs;see GM03399 Fibroblast

text: sister

text: Homo sapiens

text: Black

text: Female

text: AT

text: Ataxia-telangiectasia

text: GM03380 female unaffected Ataxia-telangiectasia sample


text: Coriell

text: live

text: Generic

text: 43 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;2 affected children including GM03332;same donor as GM03397 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

characteristic: family id

text: father

text: ATM

text: Homo sapiens

characteristic: organism

text: Black

characteristic: race

text: Male

characteristic: sex

text: AT

text: Ataxia-telangiectasia

text: Ataxia-telangiectasia mutated gene

text: ATM

text: GM03382 male unaffected AT sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 22 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;possible heterozygote;2 affected sibs;see GM03398 Fibroblast

text: brother

text: Homo sapiens

text: Black

text: Male

text: AT

characteristic: tag

text: Ataxia-telangiectasia

text: GM03383 male unaffected Ataxia-telangiectasia sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 9 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Arab

text: ARABIAN

characteristic: ethnicity

text: 48~50;XXXX~XXXXY;+11;?dup(15);add(15)(q26);der(15)t(?5;15);der(15)t(?8;15);der(15)t(?9;15);der(15)t(?13;15) cp20 .arr Xp22.33q28(108464-154887040)x4;11p15.5q25(1493104-132523580)x2~3;49;XXXXY;15q+

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: GM03384 male affected Aneuploid chromosome number - non-trisomic sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Glycogen storage disease iii

text: 1 YR

characteristic: age

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Arab;decreased amylo-1-6 glucosidase activity in fibroblasts

text: IRANIAN

text: Homo sapiens

text: Caucasian

text: Male

text: Glycogen storage disease iii

text: GM03388 male affected Glycogen storage disease iii sample


text: Coriell

text: live

text: Generic

text: Glycogen storage disease iii

text: 1 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Arab;deficient amylo-1-6-glucosidase activity in fibroblasts

characteristic: description

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Glycogen storage disease iii

text: GM03390 male affected Glycogen storage disease iii sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Mucolipidosis iii

text: 15 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Iranian;similarly affected sib;deficient fibroblast Alpha-L-iduronidase;arylsulfatase A;hexosaminidase A and B;B-galactosidase;A-fucosidase;A-galactosidase;and A-mannosidase activity;complementation group C;possible variant;donor subject is homozygous for a 1-bp deletion at nucleotide 445 of the GNPTG gene 445delG

text: IRANIAN

characteristic: family id

text: proband

text: GNPTG

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Complementation group c

text: Mucolipidosis iii

text: GM03391 male affected Mucolipidosis iii sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Mucolipidosis iii

text: 13 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Iranian;deficient alpha-L-iduronidase;arylsulfatase A;alpha-mannosidase;hexosaminidase A and B;and beta-galactosidase activity;possible variant;GlcNAc-Phosphotransferase activity = 122% (measured as specific activity in cell lysate and reported as percentage of activity in normal fibroblasts);donor subject was found not to have mutations in the GNPTAB gene via sequencing;donor subject is homozygous for a 1-bp deletion at nucleotide 445 of the GNPTG gene 445delG

text: IRANIAN

characteristic: ethnicity

text: sister

text: GNPTG

text: Homo sapiens

text: Caucasian

text: Female

text: Complementation group c

characteristic: tag

text: Mucolipidosis iii

text: GM03392 female affected Mucolipidosis iii sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Niemann-pick disease type b

text: 10 YR

characteristic: age

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Non-Jewish;less than 5% of normal sphingomyelinase activity and deficient phospholipase C activity in fibroblasts;type B

text: NON-JEWISH

text: Homo sapiens

text: Caucasian

text: Female

text: Niemann-pick disease type b

text: GM03393 female affected Niemann-pick disease type b sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: AT

text: 13 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;increased sensitivity to cell killing by X-irradiation;same donor as GM03332 Lymphoblast;a deceased sister also had AT;lymphoid culture shows hypersensitivity to X-irradiation;parents are GM03396 and GM03397;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: description

text: proband

text: ATM

text: Homo sapiens

characteristic: organism

text: Black

characteristic: race

text: Male

text: AT

text: Ataxia-telangiectasia

text: Ataxia-telangiectasia mutated gene

text: ATM

text: GM03395 male affected AT sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 42 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;normal sensitivity to cell killing by X-irradiation;2 affected children including GM03395;same donor as GM03334 Lymphoblast;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: family id

text: mother

text: ATM

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Black

text: Female

characteristic: sex

text: AT

text: Ataxia-telangiectasia

text: Ataxia-telangiectasia mutated gene

text: ATM

text: GM03396 female unaffected AT sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 43 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;normal sensitivity to cell killing by X-irradiation;2 affected children including GM03395;same donor as GM03382 Lymphoblast;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

text: father

text: ATM

text: Homo sapiens

text: Black

text: Male

text: AT

characteristic: tag

text: Ataxia-telangiectasia

text: Ataxia-telangiectasia mutated gene

text: ATM

text: GM03397 male unaffected AT sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 22 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Normal;possible heterozygote;see GM03383 Lymphoid

text: brother

text: Homo sapiens

text: Black

text: Male

text: AT

text: Ataxia-telangiectasia

text: GM03398 male unaffected Ataxia-telangiectasia sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: 20 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Normal;possible heterozygote;see GM03380 Lymphoid

text: sister

text: Homo sapiens

text: Black

text: Female

text: AT

text: Ataxia-telangiectasia

text: GM03399 female unaffected Ataxia-telangiectasia sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 11 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Normal;possible heterozygote;see GM03333A Lymphoid

characteristic: description

text: sister

text: Homo sapiens

characteristic: organism

text: Black

characteristic: race

text: Female

text: AT

text: Ataxia-telangiectasia

text: GM03400 female unaffected Ataxia-telangiectasia sample


text: Coriell

text: live

text: Generic

text: CF

text: 10 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Pennsylvania Dutch;a sister also has cystic fibrosis;donor subject is a compound heterozygote: one allele carries the deltaF508 deletion mutation (Phe508Del) and a second allele carries a G-to-A substitution at nucleotide 3978 (3978G>A) which converts the trp-1282 codon (TGG) to a stop codon (TGA);resulting in a nonsense mutation in exon 20 in the CFTR gene Trp1282Ter (W1282X)

text: CFTR

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: CF

text: Cystic fibrosis

text: Cystic fibrosis transmembrane conductance regulator

text: CFTR

text: GM03401 female affected CF sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 30 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;B.S. Registry #9;birth weight = 2;000 grams;failure to thrive in infancy with vomiting and diarrhea;weight at 18 months = 3.5 kg;at age 10 years: weight = 17.3 kg (mean weight of 4 1/2 year old);height = 118 cm (mean height of 6 1/2 year old);microcephaly;congenital dwarfism;facial telangiectasias: telangiectatic erythematous spots covered the nose;the adjacent parts of the cheeks;and lower part of the forehead;bullous crusted lesions covering the vermilion of underlip;cafe-au-lait spots on right shoulder and back;normal bone age at age 10 years;photosensitivity;high-pitched voice;rectal carcinoma and basal cell carcinoma of eyelid diagnosed at age 38 years;increased sister chromatid exchange;chromosome breakage;reduced level of DNA ligase I activity;donor subject is homozygous for a 6-bp deletion/7-bp insertion 6-bp del/7-bp ins at nucleotide 2;281 of the open reading frame of the RECQL3 gene;which results in a frameshift and a stop codon;same donor as GM03403 B-lymphocyte.

text: ASHKENAZI

characteristic: ethnicity

characteristic: family id

text: proband

text: 6-BP DEL/7-BP INS

text: Homo sapiens

text: Caucasian

text: Male

text: BLM

text: Bloom syndrome

text: Recq protein-like 3

text: GM03402 male affected RECQL3 sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 33 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;B.S. Registry #9;birth weight = 2;000 grams;failure to thrive in infancy with vomiting and diarrhea;weight at 18 months = 3.5 kg;at age 10 years: weight = 17.3 kg (mean weight of 4 1/2 year old);height = 118 cm (mean height of 6 1/2 year old);microcephaly;congenital dwarfism;facial telangiectasias: telangiectatic erythematous spots covered the nose;the adjacent parts of the cheeks;and lower part of the forehead;bullous crusted lesions covering the vermilion of underlip;cafe-au-lait spots on right shoulder and back;normal bone age at age 10 years;photosensitivity;high-pitched voice;rectal carcinoma and basal cell carcinoma of eyelid diagnosed at age 38 years;increased sister chromatid exchange;chromosome breakage;reduced level of DNA ligase I activity;donor subject is homozygous for a 6-bp deletion/7-bp insertion 2281_2286delins7 at nucleotide 2;281 of the open reading frame of the RECQL3 gene;which results in a frameshift and a stop codon;same donor as GM03402 fibroblast.

text: ASHKENAZI

text: proband

characteristic: karyotype

text: 6-BP DEL/7-BP INS

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: BLM

text: Bloom syndrome

text: Recq protein-like 3

text: GM03403 male affected RECQL3 sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Translocated chromosome

text: 15 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Mosaic;32% of cells are balanced 45;XX;t(14;21);clinical features of Down syndrome

characteristic: description

text: 46;XX;der(14;21)(14qter>14q10::21q10>21qter);+21 34 /45;XX;der(14;21)(14qter>14q10::21q10>21qter) 16

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Trisomy 21

text: Translocated chromosome

text: GM03417 female affected Translocated chromosome sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 52 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Gastrointestinal bleeding;mucous telangiectasias;4 affected generations

text: paternal grandfather

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: HHT

text: GM03418 male affected Telangiectasia, hereditary hemorrhagic of rendu, osler and weber sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 7 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Mucocutaneous telangiectasias;4 affected generations

characteristic: family id

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: HHT

text: GM03419 female affected Telangiectasia, hereditary hemorrhagic of rendu, osler and weber sample


text: Coriell

text: live

text: Generic

text: Neurofibromatosis type i

text: 17 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Cafe au lait spots;neurofibromas;mental retardation;positive family history

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Neurofibromatosis type i

characteristic: tag

text: GM03420 female affected Neurofibromatosis type i sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Neurofibromatosis type i

text: 39 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Multiple cutaneous neurofibromas;positive family history

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Neurofibromatosis type i

text: GM03421 female affected Neurofibromatosis type i sample

characteristic: title


characteristic: DNA id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 32 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Puerto Rican

text: PUERTO RICAN

characteristic: ethnicity

text: 46;XX;t(1;6)(1qter>1p36::6p23>6pter;6qter>6p23::1p36>1pter)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Translocated chromosome

text: GM03423 female unaffected Translocated chromosome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: DMD

text: 6 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;Canadian Repository #466;negative family history;walked at age 20 1/2 months;talked at 30 months;difficulty walking up stairs and difficulty running noted since age 3;wide-based and waddling gait;Gower's maneuver;depressed reflexes;wasting of shoulder muscles and slight thigh wasting;decreased muscle tone;particularly in the legs;progressive proximal muscle weakness;relatively normal strength in distal muscles;calf hypertrophy;scoliosis;lumbar lordosis;grade 2/6 systolic ejection heart murmur;elevated CPK's ranging from 5;150 to 17;090;EMG picture is consistent with DMD;EKG at age 6 suggested right ventricular enlargement or combined ventricular enlargement;muscle biopsy showed typical changes of DMD;PCR analysis of dystrophin gene shows deletion of exons 45 to 50;MLPA analysis of Dystrophin gene alterations and copy number variation (CNV) analysis using the Affymetrix 6.0 gene chip performed on DNA made from this culture showed the deletion of exons 45-50

characteristic: description

text: DMD

characteristic: gene

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Muscular dystrophy: duchenne type

text: DMD

text: Dystrophin

text: GM03429 male affected DMD sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: 4 MO

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Canadian Repository #615;46;XX;lethal neonatal hyperammonemia;Pakistani;CPS deficiency confirmed by liver biopsy;positive family history;parents are cousins

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: GM03432 female affected Carbamoyl phosphate synthetase i deficiency sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: Hemoglobin--alpha locus 2

text: 29 FW

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Chinese;Canadian Repository #646;electrophoresis confirmed Barts Hb as major component;alpha-thalassemia;positive family history;doesn't hybridize alphaglobin cDNA probe;46;XX

text: CHINESE

text: Homo sapiens

text: Asian

text: Female

text: Hemoglobin--alpha locus 2

characteristic: tag

text: GM03433 female affected Hemoglobin--alpha locus 2 sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 20 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Skin biopsy (leg);46;XY

characteristic: family id

text: proband

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Apparently healthy non-fetal tissue

text: GM03440 male unaffected Apparently healthy non-fetal tissue sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: TSD

text: 37 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Variant;HEX A deficiency;dementia;ataxia;upper and lower motor neuron involvement;Ashkenazi;guanosine to adenosine transition at the 3' end of exon 7 Gly269Ser (G269S) in 1 allele and a G>C splice site mutation in intron 12 (IVS12DS+1G>C in 2nd allele

characteristic: description

text: JEWISH

characteristic: ethnicity

text: HEXA

characteristic: gene

characteristic: mutation

text: G>C

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Tay-sachs disease

text: Hexosaminidase a

text: TSD

text: HEXA

text: GM03441 female affected TSD sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: Hypophosphatasia

text: 5 MO

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Severe lethal;in utero onset;deficient serum and fibroblast alkaline phosphatase activity

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Phosphoethanolaminuria - 241500 or 241510

text: Hypophosphatasia

text: GM03459 male affected Hypophosphatasia sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: TSD

text: 24 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Ashkenazi;variant;deficient hexosaminidase A;weakness and ataxia;donor subject is a compound heterozygote: one allele has a G>A transition at nucleotide 805 in exon 7 of the HEXA gene 805G>A resulting in a substitution of serine for glycine at codon 269 Gly269Ser (G269S) and a second allele has a splice site mutation with a G>C transversion in the first nucleotide of intron 12 IVS12+1G>C .

text: JEWISH

text: HEXA

text: G>C

text: Homo sapiens

text: Caucasian

text: Male

text: Tay-sachs disease

characteristic: tag

text: Hexosaminidase a

text: TSD

text: HEXA

text: GM03461 male affected TSD sample

characteristic: title


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 3 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Growth retardation and congenital malformations;MYH6 and MYH7 gene probes reveal 3 copies of cardiac alpha- and beta-myosin heavy chain genes

characteristic: description

characteristic: family id

text: proband

text: 47;XX;+der(14)(14pter->14q12::9p21->9pter)mat.arr 9p24.3p21.3(36586-24923878)x3;14q11.1q12(18072111-26925979)x3;47;XX;+der(14)(14pter>14q13:: 9p22>9pter)mat

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Translocated chromosome

text: GM03462 female unaffected Translocated chromosome sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 23 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically normal

text: mother

text: 46;XX;t(9;14)(9qter>9p22::14q13>14qter;14pter>14q13::9p22>9pter)

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Translocated chromosome

text: GM03463 female unaffected Translocated chromosome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: CF

text: 4 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Pericardium biopsy;has 2 affected sibs;first diagnosed by sweat test at age 10 weeks;pulmonary and hepatic cirrhosis;expired at age 4;46;XY;same patient as GM03466;donor subject is a compound heterozygote: one allele carries the deltaF508 deletion mutation (Phe508Del) and a second allele carries a G-to-A transition at nucleotide 1784 (1784G>A) which converts the gly-551 codon (GGT) to an asp (GAT);resulting in a missense mutation in exon 11 in the CFTR gene Gly551Asp (G551D)

text: proband

text: CFTR

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: CF

text: Cystic fibrosis

text: Cystic fibrosis transmembrane conductance regulator

text: CFTR

text: GM03465 male affected CF sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: CF

text: 4 YR

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Skin biopsy;has 2 affected sibs;first diagnosed by sweat test at age 10 weeks;pulmonary and hepatic cirrhosis;expired at age 4;same patient as GM03465;defective fibroblast cAMP-stimulated Cl channel

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: CF

characteristic: tag

text: Cystic fibrosis

text: CFTR

text: GM03466 male affected CF sample


text: Coriell

text: live

text: Generic

text: Lesch-nyhan syndrome

text: 5 DA

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Fibro resistant to azaguanine and thioguanine;cannot utilize exogenous hypoxanthine;HPRT deficient;partial gene deletion beginning with the region coding for exons 7;8 and 9 in the HPRT1 gene and extending 3' to the last exon;no detect stable HPRT mRNA

characteristic: description

text: Homo sapiens

text: Caucasian

text: Male

text: LNS

text: Hypoxanthine guanine phosphoribosyltransferase 1

text: Lesch-nyhan syndrome

text: HPRT

text: GM03467 male affected Lesch-nyhan syndrome sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 5 DA

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Foreskin;sensitive to azaguanine and thioguanine;utilizes exogenous hypoxanthine;normal HPRT and APRT;46;XY

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Apparently healthy non-fetal tissue

text: GM03468 male unaffected Apparently healthy non-fetal tissue sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 20 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: 46;XY;Mexican-American;daughter is GM03470 Lymphoid;10% of cells show random chromosome loss;donor subject is heterozygous for an Arg>His change at amino acid 170 G>A at nucleotide 641 (641G>A) in exon 5 of the CFTR gene;analysis of a DNA variant in a noncoding region of the CFTR gene (polypyrimidine tract in intron 8) showed this donor has alleles 7T/7T

text: MEXICAN

characteristic: ethnicity

characteristic: family id

text: father

text: CFTR

characteristic: gene

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Apparently healthy non-fetal tissue

text: CFTR

text: GM03469 male unaffected Apparently healthy non-fetal tissue sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 1 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Microcephaly;microphthalmia;and hypotelorism;father is GM03469A Lymphoid;both parents have normal karyotypes;gene copy numbers: D10S17-2;D10S28-2;VIM-1;and D10S34-2;same subject as GM21877 (sampled at age 6 weeks)

text: proband

text: 46;XX;del(10)(pter->p13::p12->qter).arr 10p13p12.1(13350741-25287295)x1;21q22.3(45556361-45876985)x3;46;XX;del(10)(pter>p13::p12>qter)

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Chromosome deletion

text: Copy number variation (cnv) refernece panel 02

text: GM03470 female unaffected Chromosome deletion sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Cornelia de lange syndrome 1

text: 4 DA

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Typical facies;clinodactyly;fibroblasts show 46;XY/92;XXYY;76%/24% with fragments;breakage;and random loss

characteristic: description

text: 92;XXYY 12 /46;XY 38

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: Cornelia de lange syndrome 1

text: GM03478 male affected Cornelia de lange syndrome 1 sample

characteristic: title


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: Digeorge syndrome

text: 2 MO

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: 46;XY;clinically affected;absent thymus;possibly absent parathyroid glands (as determined by autopsy);tracheoesophageal fistula;esophageal atresia;bilateral cleft lip and palate;rocker bottom feet;low-set ears with abnormal folds;short neck;clinodactyly;small right testes;two renal arteries on right side;profound lymphocytopenia;episodes of hypocalcemia;short;flat nose;inward rotation of the left foot with limited abduction of the left lower hip;brain findings on autopsy include arhinencephaly;ectopic subcortical nodules of cerebellar hemispheres;and multiple intracerebral and subarachnoid hemorrhages;heart findings on autopsy include Tetralogy of Fallot (with infundibular pulmonary stenosis;over-riding of the aorta;bicuspid pulmonary valve with some valvular pulmonic stenosis;right ventricular hypertrophy;ventricular septal defect);atrioventricular communis (complete type);ostium secundum defect of the atrial septum;anomalous origin of the right subclavian artery from the left side passing posterior to the right;single ostium of coronary artery with anterior bifurcation into two branches close to origin;patent ductus arteriosus;no deletion of D22S75 in the DiGeorge syndrome critical region using probes N25 and D22S39.

text: 46;XY;46;XY.ish(22q11.2)(N25;D22S39)x2;46;XY.ish(22q11.2)(N25;D22S39)x2.arr(1-22)x2;(XY)x1

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: DGS

text: Digeorge syndrome

text: GM03479 male affected Digeorge syndrome sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Wilms tumor 1

text: 13 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Five additional family members have Wilms tumor;46;XX;both chromosomes #11 appear normal

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Wilms tumor 1

text: GM03485 female affected Wilms tumor 1 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Ataxia-telangiectasia

text: 8 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: AT4BE;neurological abnormalities;similarly affected sibling;see GM03189D Lymphoid;increased sensitivity to cell killing by X-irradiation

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: AT

text: Ataxia-telangiectasia

text: GM03487 male affected Ataxia-telangiectasia sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 41 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically normal;ATH15Be;2 affected children;see GM03187A Lymphoid;normal sensitivity to cell killing by X-irradiation

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: AT

text: Ataxia-telangiectasia

text: GM03488 male unaffected Ataxia-telangiectasia sample


text: Coriell

text: live

text: Generic

text: 37 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;ATH16Be;2 affected children;see GM03188A Lymphoid;normal sensitivity to cell killing by X-irradiation

characteristic: description

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: AT

characteristic: tag

text: Ataxia-telangiectasia

text: GM03489 female unaffected Ataxia-telangiectasia sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: 16 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: See GM03324 Lymphoid;possible heterozygote;clinically unaffected

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: AT

text: Ataxia-telangiectasia

text: GM03490 female unaffected Ataxia-telangiectasia sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 15 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: See GM03325 Lymphoid;possible heterozygote;clinically unaffected

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: AT

text: Ataxia-telangiectasia

text: GM03491 female unaffected Ataxia-telangiectasia sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 7 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: See GM03323 Lymphoid;possible heterozygote;clinically unaffected

text: brother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: AT

text: Ataxia-telangiectasia

text: GM03492 male unaffected Ataxia-telangiectasia sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 5 MO

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Partial trisomy 6p;psychomotor retardation;multiple congenital anomalies

text: proband

text: 46;XX;der(5)(5pter->5q35::6p22->6pter)pat.arr 5q35.3(178022586-180331967)x1;6p25.3p22.3(347086-21320694)x3;46;XX;der(5)(5pter>5q35:: 6p22>6pter)pat

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Translocated chromosome

text: GM03493 female unaffected Translocated chromosome sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 27 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically normal

characteristic: family id

text: father

text: 46;XY;t(5;6)(5pter>5q35::6p22>6pter;6qter>6p22::5q35>5qter)

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Translocated chromosome

text: GM03494 male unaffected Translocated chromosome sample


text: Coriell

text: live

text: Generic

text: 4 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;B.S. Registry #87;stunted growth;minimal freckling over malar area;normal intelligence;excessive sister chromatid exchange in leukocytes and fibroblasts;4-fold more sensitive to killing by ethyl methanesulphonate compared to control fibroblast;reduced level of DNA ligase I activity;donor subject is a compound heterozygote: one allele has a 6-bp deletion/7-bp insertion 6-bp del/7-bp ins at nucleotide 2;281 of the open reading frame of the RECQL3 gene that results in a frameshift and a stop codon and a second allele has 1-bp deletion at nucleotide 3233 3233delT of the RECQL3 gene resulting in a frameshift and premature termination;same donor as GM04408 B-lymphocyte.

characteristic: description

text: JEWISH/ENGLISH

characteristic: ethnicity

text: proband

characteristic: gene

characteristic: mutation

text: 6-BP DEL/7-BP INS

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

characteristic: tag

text: BLM

text: Bloom syndrome

text: Recq protein-like 3

text: GM03498 male affected RECQL3 sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: Translocated chromosome

text: 10 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Retardation-dysmorphic syndrome

text: Homo sapiens

text: Caucasian

text: Male

text: Translocated chromosome

text: GM03501 male affected Translocated chromosome sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: Hypophosphatasia

text: 20 FW

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: See GM03336 Amniotic;severe;lethal;in utero onset;passage 2 at CCR;similarly affected sib;46;XX;deficient fibroblast alkaline phosphatase activity

text: proband

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Phosphoethanolaminuria - 241500 or 241510

text: Hypophosphatasia

text: GM03502 female affected Hypophosphatasia sample


text: Coriell

text: live

text: Generic

text: 2 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Down's syndrome variant;mother is 46;XX;del(21)

characteristic: description

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Derivative chromosome

text: GM03503 male unaffected Derivative chromosome sample


text: Coriell

text: live

text: Generic

text: 4 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Severe microcephaly;oligodactyly;coloboma;midline scalp defect;hypoplastic nose;passage 2 at IMR

text: 46;XX;del(13)(pter->q31:).arr 13q31.1q34(81655162-114126487)x1;46;XX;dic(13;13)(13pter>13q22::13q11> 13pter)

text: Homo sapiens

text: Black

text: Female

characteristic: sex

text: Dicentric chromosome

characteristic: tag

text: GM03518 female unaffected Dicentric chromosome sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Asphyxiating thoracic dystrophy

text: 2 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: 46;XX;thoracic-pelvic-phalangeal dystrophy

text: Homo sapiens

text: Caucasian

text: Female

text: ATD

text: Asphyxiating thoracic dystrophy

text: GM03521 female affected Asphyxiating thoracic dystrophy sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Holocarboxylase synthetase deficiency

text: 4 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;product of a twin pregnancy;holocarboxylase synthetase deficient;acidosis;cat urine odor;shock;responded well to biotin treatment;mother was given supplemental biotin in the last trimester of pregnancy due to history of two previously affected infants;deficient propionyl CoA carboxylase;pyruvate carboxylase;and B-methylcrotonyl CoA carboxylase

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Holocarboxylase synthetase deficiency

text: GM03522 male affected Holocarboxylase synthetase deficiency sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 21 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Skin biopsy (right neck);46;XY;8% of cells show random chromosome loss

text: 46;XY;46;XY;t(3;11)(3pter>3q24::11p15>11pter;11qter>11p15::3q24>3qter) 15 /46;XY 35

text: Homo sapiens

text: Caucasian

text: Male

text: Apparently healthy non-fetal tissue

text: GM03523 male unaffected Apparently healthy non-fetal tissue sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 67 YR

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Skin biopsy (right calf)

characteristic: karyotype

text: Homo sapiens

text: Black

text: Female

text: Apparently healthy non-fetal tissue

text: GM03524 female unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

text: Generic

text: 80 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Skin biopsy (abdomen);46;XX;12% of cells show random chromosome loss/gain

characteristic: description

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Apparently healthy non-fetal tissue

text: GM03525 female unaffected Apparently healthy non-fetal tissue sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 66 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Skin biopsy (left thigh);46;XY;6% of cells show random chromosome loss/gain and 4% show random chromosomal aberrations

text: Homo sapiens

text: Black

text: Male

characteristic: sex

text: Apparently healthy non-fetal tissue

characteristic: tag

text: GM03529 male unaffected Apparently healthy non-fetal tissue sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 20 FW

text: Amniotic fluid-derived cell line

text: NIGMS Human Genetic Cell Repository

text: Homo sapiens

text: Caucasian

text: Male

text: GM03535 male unaffected Aneuploid chromosome number - non-trisomic sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Classical trisomy 18 syndrome findings

text: Homo sapiens

text: Caucasian

text: Female

text: Aneuploid chromosome number - trisomy

text: Aneuploid chromosome number - trisomy 18

text: GM03538 female unaffected Aneuploid chromosome number - trisomy sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: XPF

text: 29 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Japanese;XP3YO;10% of normal post UV unscheduled DNA synthesis;no neurological abnormalities;son of a niece of XP2YO;donor subject is a compound heterozygote: one allele has a G>A transition at nucleotide 1436 of the ERCC4 gene (1436G>A) resulting in the substitution of glutamine for arginine at codon 479 Arg479Gln (R479Q) and the second allele has a T>C transition at nucleotide 1790 (1790T>C) resulting in the substitution of proline for leucine at codon 599 Leu599Pro (L599P)

text: JAPANESE

characteristic: ethnicity

characteristic: family id

text: great nephew

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Asian

text: Male

text: Xeroderma pigmentosum, complementation group f

text: Excision-repair: complementing defective in chinese hamster 4

text: XPF

text: GM03542 male affected XPF sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 15 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Turner Syndrome;40%/60%

characteristic: description

text: 46;X;i(X)(qter>q10::q10>qter) 30 /45;X 20

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Iso x chromosome

text: Turner syndrome

text: GM03543 female unaffected Iso x chromosome sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 15 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Arab;46;XY;ambiguous genitalia;virilized at puberty;similarly affected sister;parents are first cousins

text: ARABIAN

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

characteristic: tag

text: GM03547 female affected Pseudohermaphroditism, male, with gynecomastia sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Tuberous sclerosis

text: 16 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Positive family history;clinically affected

text: Homo sapiens

text: Caucasian

text: Male

text: Tuberous sclerosis

text: TS

text: GM03549 male affected Tuberous sclerosis sample


text: Coriell

text: live

text: Generic

text: Translocated chromosome

text: 29 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Vietnamese;gonadal dysgenesis;negative for H-Y antigen;in lymphocytes terminally pulsed with BrdU;normal X was late replicating;elevated gonadotropins;axillary and pubic hair;45% of cells have 18q+

text: VIETNAMESE

characteristic: ethnicity

text: 46;X;t(X;11)(Xpter>Xq26::11q23> 11qter;11pter>11q23::Xq26>Xqter);46;X;t(X;11)(Xpter>Xq26::11q23>11qter;11pter>11q23::Xq26>Xqter)/46;X;t(X;11) (q26;q23);18q+

text: Homo sapiens

text: Asian

text: Female

text: Translocated chromosome

text: GM03552 female affected Translocated chromosome sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 24 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Possible carrier levels of acid lipase;46;XX;clinically unaffected mother of GM02109B;heterozygous for LIPA gene mutation c.256C>T (p.H86Y)

characteristic: description

characteristic: family id

text: mother

text: Homo sapiens

text: Black

text: Female

text: Wolman disease

text: GM03557 female unaffected Wolman disease sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 28 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Normal level of acid lipase;46;XY;clinically unaffected father of GM02109B;heterozygous for LIPA gene mutation c.193C>T(p.R65X)

text: father

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Black

characteristic: race

text: Male

text: Wolman disease

text: GM03558 male unaffected Wolman disease sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 30 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: 46;XY;t(2;15)(2pter>2q37::15q22>15qter;15pter>15q22::2q37>2qter)

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Translocated chromosome

text: GM03559 male unaffected Translocated chromosome sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Aspartylglucosaminuria

text: 10 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Deficient N-aspartyl-beta-glycosaminidase;mental retardation and dysmorphic features;donor subject is homozygous for a splice mutation in the AGA gene (glycoasparaginase);a G>T substitution resulting in a 133 base pair deletion at positions 807 through 940 in the mRNA;non-Finnish pt

text: AGA

characteristic: gene

text: TER

characteristic: mutation

text: FS

text: 133-BP DEL

text: Homo sapiens

text: Black

text: Male

text: Aspartylglucosaminuria

characteristic: tag

text: GM03560 male affected Aspartylglucosaminuria sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: Spinocerebellar ataxia 7

text: 22 YR

characteristic: age

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Probably type III;see GM03562 Lymphoid;positive family history

text: proband

text: Homo sapiens

text: Black

text: Female

text: Spinocerebellar ataxia 7

text: GM03561 female affected Spinocerebellar ataxia 7 sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Spinocerebellar ataxia 7

text: 22 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Probably type III;see GM03561 Fibroblast;positive family history

characteristic: description

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Black

characteristic: race

text: Female

text: Spinocerebellar ataxia 7

text: GM03562 female affected Spinocerebellar ataxia 7 sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 1 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Multiple congenital anomalies

text: 46;XY;der(9)(9qter->9p24::3q12->3qter)mat.arr 3q12.1q29(100223417-199330304)x3;9p24.3(36586-1846893)x1;46;XY;der(9)(9qter>9p24:: 3q12>3qter)mat

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Translocated chromosome

text: GM03563 male unaffected Translocated chromosome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: TSD

text: 31 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Ashkenazi;ataxia;dementia;peripheral neuropathy;deficient HEX A;variant;guanosine to adenosine transition at the 3' end of exon 7 Gly269Ser (G269S) in 1 allele and a 4 base pair insertion in exon 11 in the other allele (1278insTATC)

text: ASHKENAZI

characteristic: ethnicity

text: HEXA

characteristic: gene

characteristic: mutation

text: 4-BP INS

text: Homo sapiens

text: Caucasian

text: Female

text: Tay-sachs disease

characteristic: tag

text: Hexosaminidase a

text: TSD

text: HEXA

text: GM03575 female affected TSD sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: 13 FW

characteristic: age

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Spontaneous abortus

text: Homo sapiens

text: Caucasian

text: Male

text: Aneuploid chromosome number - trisomy

text: GM03576 male unaffected Aneuploid chromosome number - trisomy sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Digeorge syndrome

text: 8 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;unbalanced chromosome translocation and DiGeorge syndrome;recurrent episodes of otitis media;absent thymus;absent parathyroid glands;bilateral cleft lip and palate;bifid uvula;hypertelorism;ears are large;low-set;scooped out and anteriorly displaced with poorly formed ear lobes;beaked nose with flattening of the nasal bridge;absent philtrum;flattened chest;widely spaced nipples;external rotation of lower extremities;sacrococcygeal dimple;heart abnormalities as seen on autopsy include transposition of the great vessels;atresia of pulmonary valve;right aortic arch;right thoracic descending aorta;ventricular septal defect;atrial septal defect in position of the foramen ovale;brain findings on autopsy include malformation of cerebral lobes;with shortening of the anterior frontal and temporal lobes;peripheral lymph nodes with hypoplastic paracortical zones;small kidneys with some sclerosed glomeruli and foci of lymphocytic infiltration in the subcapsular renal cortex;extensive metastatic calcification of the kidneys;focal calcification of the media of the aorta and pulmonary artery.

characteristic: description

text: 45;XY;der(3)(3pter>3q29:: 22q11>22qter);-22;45;XY;der(3)(3pter>3q29::22q11.2->22qter);-22.arr 22q11.1q11.21(15037288-18710744)x1;45;XY;der(3)t(3;22)(3pter>3q29:: 22q11>22qter);-22

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: DGS

text: Translocated chromosome

text: Digeorge syndrome

text: GM03577 male affected Digeorge syndrome sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Protease inhibitor 1

text: 3 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Pi type ZZ in serum;donor subject is homozygous for the Z allele (ZZ);which results from a G>A transition at nucleotide 9989 in exon 5 of the SERPINA1 gene 9989G>A resulting in a substitution of lysine for glutamic acid at codon 342 Glu342Lys (E342K) .

text: CUBAN/GREEK

characteristic: ethnicity

characteristic: family id

text: proband

text: PI

text: GLU342LYS ON M1A

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: PI

text: Protease inhibitor 1

text: GM03578 female affected Protease inhibitor 1 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 31 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Pi type MZ in serum;donor subject is MZ;the Z allele results from a G>A transition at nucleotide 9989 in exon 5 of the SERPINA1 gene 9989G>A resulting in a substitution of lysine for glutamic acid at codon 342 Glu342Lys (E342K) .

text: CUBAN

text: mother

text: PI

characteristic: gene

text: GLU342LYS ON M1A

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: PI

characteristic: tag

text: Protease inhibitor 1

text: GM03579 female unaffected Protease inhibitor 1 sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 34 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: GREEK

text: father

text: PI

text: GLU342LYS ON M1A

text: Homo sapiens

text: Caucasian

text: Male

text: PI

text: Protease inhibitor 1

text: GM03580 male unaffected Protease inhibitor 1 sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: TSD

text: 1 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: 5% of normal hexosaminidase A activity;donor subject is homozygous for a 4 bp insertion at nucleotide 1278 in exon 11 of the HEXA gene (c.1278insTATC)

characteristic: description

text: JEWISH

text: HEXA

text: 4-BP INS

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Tay-sachs disease

text: Hexosaminidase a

text: TSD

text: HEXA

text: GM03585 female affected TSD sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: TSD

text: 3 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: 8% of normal hexosaminidase A activity;donor subject is homozygous for a 4 bp insertion at nucleotide 1278 in exon 11 of the HEXA gene (c.1278insTATC)

text: HEXA

text: 4-BP INS

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Tay-sachs disease

text: Hexosaminidase a

text: TSD

text: HEXA

text: GM03586 female affected TSD sample


text: Coriell

text: live

text: Generic

text: Gangliosidosis generalized gm1 type i

text: 7 MO

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Less than 1% of normal beta-galactosidase and normal sialidase activity;short stature;developmental delay;cherry-red spots;both parents have less than normal beta-galactosidase activity

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Gangliosidosis generalized gm1 type i

characteristic: tag

text: GM03589 female affected Gangliosidosis generalized gm1 type i sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Propionic acidemia

text: 22 FW

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Deficient propionyl CoA carboxylase activity;complementation group C

text: Homo sapiens

text: Caucasian

text: Male

text: Propionic acidemia

text: GM03590 male affected Propionic acidemia sample


text: Coriell

text: live

text: Generic

text: 26 FW

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Multiple anomalies

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Triploid chromosome number

text: GM03591 male unaffected Triploid chromosome number sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 11 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Mixed gonadal dysgenesis;ambiguous external genitalia;psychosomatic retardation;H-Y antigen positive;84% have del(Y);breakpoint is probably q(11)

text: 45;X/46;X;del(Y)(pter>q11:);46;X;del(Y)(pter>q11:) 42 /45;X 8

text: Homo sapiens

text: Caucasian

text: GM03595 unknown unaffected Aneuploid chromosome number - non-trisomic sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: DMD

text: 4 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Abnormal EMG;abnormal muscle biopsy;elevated CPK;no family history of muscular dystrophies;PCR analysis of dystrophin gene shows deletion of at least exon 19;MLPA analysis of Dystrophin gene alterations and copy number variation (CNV) analysis using the Affymetrix 6.0 gene chip performed on DNA made from this culture showed the deletion of exons 18-41

characteristic: description

text: DMD

characteristic: gene

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Muscular dystrophy: duchenne type

text: DMD

text: Dystrophin

text: GM03604 male affected DMD sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Hyperpipecolatemia

text: 7 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Hepatomegaly;severe mental retardation;developmental delay;functional blindness;elevated pipecolic acid in serum

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Hyperpipecolatemia

text: GM03605 male affected Hyperpipecolatemia sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 18 FW

characteristic: age

characteristic: cell line

text: Amniotic fluid-derived cell line

text: NIGMS Human Genetic Cell Repository

text: Black/Caucasian;47;XX;+21;less sensitive to interferon A and B compared to normal diploid fibroblasts

text: BLACK/CAUCASIAN

characteristic: ethnicity

text: Homo sapiens

text: More than one race

text: Female

text: Trisomy 21

characteristic: tag

text: Aneuploid chromosome number - trisomy

text: GM03606 female unaffected Aneuploid chromosome number - trisomy sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 21 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Microcephaly;retarded growth;mental deficiency;sickle cell trait;hypo- and hyperpigmented skin areas;4% of normal post UV unscheduled DNA synthesis;complements groups A;C;and D

characteristic: family id

text: proband

text: Homo sapiens

text: Black

text: Female

text: GM03614 female affected Xeroderma pigmentosum: complementation group undetermined sample


characteristic: DNA id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Huntington disease

text: 29 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: See GM03621 Fibroblast;age of onset 18 years;similarly affected father and grandmother;46;XX

characteristic: description

text: daughter

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Huntington disease

text: HD

text: GM03620 female affected Huntington disease sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Huntington disease

text: 29 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: See GM03620A Lymphoid;onset at age 18 years;similarly affected grandmother and father;46;XX

text: daughter

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Huntington disease

text: HD

text: GM03621 female affected Huntington disease sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinical features of variant trisomy 18

text: 48;XXX;+18;48;XXX;+18.arr Xp22.33q28(108464-154887040)x3;1q31.3(195005233-195168376)x1;18p11.32q23(1542-76116029)x3

text: Homo sapiens

text: Black

text: Female

characteristic: sex

text: Aneuploid chromosome number - trisomy

text: Aneuploid chromosome number - trisomy 18

text: GM03623 female unaffected Aneuploid chromosome number - trisomy sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 23 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Phenotypically normal;normal fertility;deleted X is late replicating;both parents have normal karyotypes;two liveborn infants - one child with del(X) and trisomy 21 and one chromosomally and phenotypically normal female

text: 46;X;del(X)(pter->q25:).arr Xq25q28(129376097-154887040)x1;46;X;del(X)(pter>q26:);46;X;del(X)(q25);t(1;9)(p36;q22);t(1;9)(q42;q21)/46;del(X)(q25);del(X)(p21)

text: Homo sapiens

text: Caucasian

text: Female

text: Chromosome deletion

characteristic: tag

text: GM03624 female unaffected Chromosome deletion sample


text: Coriell

text: live

text: Generic

text: Cartilage-hair hypoplasia

text: 38 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Amish;short stature;thin hair;no history of immune defect

text: AMISH

characteristic: ethnicity

text: Homo sapiens

text: Caucasian

text: Female

text: CHH

text: Cartilage-hair hypoplasia

text: GM03625 female affected Cartilage-hair hypoplasia sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Cartilage-hair hypoplasia

text: 20 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Old order Amish;short stature;Tcell defect;thin hair

characteristic: description

text: AMISH

text: Homo sapiens

text: Caucasian

text: Male

text: CHH

text: Cartilage-hair hypoplasia

text: GM03626 male affected Cartilage-hair hypoplasia sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: Retinoblastoma

text: 37 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Bilateral;daughter also has bilateral Retinoblastoma (GM03641)

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Rb1 osteosarcoma, retinoblastoma-related included

text: Retinoblastoma

text: GM03640 female affected Retinoblastoma sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Retinoblastoma

text: 4 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Bilateral;also pinealoblastoma;mother also has bilateral Retinoblastoma (GM03640)

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Retinoblastoma

text: GM03641 female affected Retinoblastoma sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Huntington disease

text: 55 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: See GM01061A Fibroblast;choreoathetosis;dysarthria;and dysphagia;positive family history for HD

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Huntington disease

text: HD

text: GM03642 male affected Huntington disease sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Huntington disease

text: 50 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Onset at age 35;choreoathetosis;mild dysarthria;mild dysphagia;depression;positive family history;see GM01083A Fibroblast;the number of CAG repeats in the HD gene are 44 and 19

text: sister

text: HD

characteristic: gene

text: (CAG)n EXPANSION

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Huntington disease

characteristic: tag

text: HD

text: GM03643 female affected Huntington disease sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Huntington disease

text: 48 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: See GM01085 Fibroblast;moderate ataxia;chorea;dysarthria;and dysphagia;onset at age 35;affected mother and grandmother

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Huntington disease

text: HD

text: GM03644 male affected Huntington disease sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Huntington disease

text: 53 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Severe choreoathetosis;moderate dysarthria and dysphagia;onset at age 33;mother of GM03748

characteristic: family id

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Huntington disease

text: HD

text: GM03645 female affected Huntington disease sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 41 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Growth and mental retardation;mildly dysmorphic;partial trisomy of the distal long arm of chromosome 1;similarly affected half-brother

text: proband

text: 46;XY;der(6)(6qter>6p25:: 1q32>1qter)mat

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Translocated chromosome

text: GM03647 male unaffected Translocated chromosome sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 32 YR

characteristic: age

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Growth and mental retardation;mildly dysmorphic;partial trisomy of the distal long arm of chromosome 1

text: half-brother

text: 46;XY;der(6)(6qter>6p25:: 1q32>1qter)mat;46;XY;der(6)t(1;6)(q41;p25)(1qter->1q41::6p25->6qter)mat.arr 1q41q44(213286053-243703033)x3;6p25.3(94648-592953)x1

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Translocated chromosome

text: GM03648 male unaffected Translocated chromosome sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 47 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically normal;3 affected brothers and 3 affected sons;donor subject has one allele with 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: mother

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Dyskeratosis congenita, x-linked

characteristic: tag

text: DKC

text: Dyskerin

text: GM03650 female unaffected DKC1 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 25 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Skin biopsy (left forearm);46;XX

characteristic: description

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Apparently healthy non-fetal tissue

text: GM03651 female unaffected Apparently healthy non-fetal tissue sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 24 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Skin biopsy (left forearm);46;XY;4% of cells show random chromosome loss

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Apparently healthy non-fetal tissue

text: GM03652 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 26 YR

characteristic: age

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Russian-Italian;infantile;Bruton-type agammaglobulinemia;3 affected generations;46;XY in fibroblast culture

text: RUSSIAN/ITALIAN

characteristic: ethnicity

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: BTK

text: GM03654 male affected Bruton agammaglobulinemia tyrosine kinase sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 68 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: 46;XY;2% of cells show random chromosome loss;see GM03658 Fibroblast

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Apparently healthy non-fetal tissue

characteristic: tag

text: GM03657 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 68 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Skin biopsy (left forearm);46;XY: see GM03657A Lymphoid

characteristic: description

characteristic: family id

text: proband

text: 45;X 14 /46;XY 36;46;XY

text: Homo sapiens

text: Caucasian

text: Male

text: Apparently healthy non-fetal tissue

text: GM03658 male unaffected Apparently healthy non-fetal tissue sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 24 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Two previous first trimester spontaneous abortions;son is only affected individual in a large pedigree;fibroblasts exhibit increased accumulation of intracellular copper;clinically unaffected mother of GM03700

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Menkes syndrome

text: GM03659 female unaffected Menkes syndrome sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Friedreich ataxia - 229300 or 136600

text: 13 YR

characteristic: age

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;limb and gait ataxia;scoliosis;proprioceptive sensory loss;46;XX;negative family history;passage 7 at CCR

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Friedreich ataxia - 229300 or 136600

text: GM03665 female affected Friedreich ataxia - 229300 or 136600 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Acute lymphocytic leukemia

text: 3 YR

text: T-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: T cell line CCRF-CEM;virus particle free;positive for T cell 65;000 M.W. glycoprotein and negative for sIg and Ia (B cell) antigen;all cells show 8p-;-18;inv(X);and +20;6% of cells are diploid;94% tetraploid;all show random chromosome abnormalities

text: XX

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Acute lymphocytic leukemia

text: Lymphosarcoma

text: GM03671 female affected Acute lymphocytic leukemia sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Leigh syndrome

text: 1 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Developmental regression;microcephalic;elevated blood lactic acid and pyruvate;only affected family member;46;XX

text: Homo sapiens

text: Caucasian

text: Female

text: Leigh syndrome

characteristic: tag

text: GM03672 female affected Leigh syndrome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 19 FW

text: Amniotic fluid-derived cell line

text: NIGMS Human Genetic Cell Repository

characteristic: description

text: Homo sapiens

text: Black

text: Female

text: GM03673 female unaffected Aneuploid chromosome number - non-trisomic sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Mucolipidosis iiia

text: 15 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Abnormal mucopolysaccharide accumulation and deficiencies for multiple acid hydrolases in fibroblasts including B-galactosidase;deficient leuko and fibro N-acetylglucosaminylphosphotransferase and increased serum B-hexosaminidase;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 donor splice site mutation in intron 17 of the GNPTAB gene IVS17+6T>G resulting in the skipping of exon 17 and a frameshift with a premature termination at residue 1085 P1084fsX1085 and a second allele has a 2-bp deletion in exon 19 of the GNPTAB gene 3665_3666delTC resulting in a frameshift and truncation of the protein in the beta subunit L1168fsX1172 .

text: GNPTAB

characteristic: gene

characteristic: mutation

text: T>G

text: 2-BP DEL

text: Homo sapiens

text: Caucasian

text: Male

text: GNPTAB

text: N-acetylglucosamine-1-phosphotransferase alpha/beta subunits

text: Mucolipidosis iiia

text: GM03685 male affected Mucolipidosis iiia sample

characteristic: title


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 24 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Mental and growth retardation;delayed sexual maturation;multiple congenital anomalies

text: 46;XX;der(10)(10qter> 10p15::8p21.1>8pter)mat;46;XX;der(10)(8pter->8p21.1::10p15->10qter)mat.arr 8p23.3p21.1(36385-28247802)x3;10p15.3(101954-2607975)x1;47;XX;+der(10)(10qter>10p15::8p21.1>8pter) 19 mat/46;XX;der(10)(10qter>10p15::8p21.1>8pter)mat 31

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Translocated chromosome

text: GM03689 female unaffected Translocated chromosome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Tay-sachs disease

text: 13 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Dysarthria;dementia;and ataxia;normal B-hexosaminidase A and B;B-galactosidase;arylsulfatase A;and glycoprotein neuraminidase activities

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Tay-sachs disease

text: Ab variant

text: GM03691 female affected Tay-sachs disease sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: DMPK

text: 13 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Family history of clinical phenotype;EMG myotonia and mild myopathic facies;affected father is GM03759A Fibroblast;expansion of CTG repeat is 1.5 to 3.0 kb by Southern analysis corresponding to up to 1000 CTG repeats

characteristic: family id

text: daughter

text: DMPK

text: (CTG)n EXPANSION

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Dystrophia myotonica protein kinase

characteristic: tag

text: DMPK

text: Dystrophia myotonica 1

text: GM03696 female affected DMPK sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: DMPK

text: 17 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Myotonic face;EMG myotonia;distal atrophy;positive family history;expansion of CTG repeat is <1.5 kb detectable by Southern analysis corresponding to up to 500 CTG repeats

characteristic: description

text: proband

text: DMPK

characteristic: gene

text: (CTG)n EXPANSION

text: Homo sapiens

text: Caucasian

text: Male

text: Dystrophia myotonica protein kinase

text: DMPK

text: Dystrophia myotonica 1

text: GM03697 male affected DMPK sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Menkes syndrome

text: 9 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Low serum copper and ceruloplasmin;fibroblasts exhibit increased accumulation of intracellular copper

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Menkes syndrome

text: GM03700 male affected Menkes syndrome sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 10 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Sister of GM03715;46;XX;2% of cells show random chromosome loss

text: proband

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Apparently healthy non-fetal tissue

text: GM03714 female unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 12 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: 46;XX;10% of cells show random chromosome loss;sister of GM03714A

text: EUROPEAN

characteristic: ethnicity

text: sister

text: 45;XX;-21 4 /46;XX 46;46;XX

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Apparently healthy non-fetal tissue

text: GM03715 female unaffected Apparently healthy non-fetal tissue sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Aneuploid chromosome number - trisomy

text: 23 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinical features of Down syndrome

text: 47;XY;+21;47;XY;+21 42 /47;XY;add(9)(?::p24>qter);+21 8

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Trisomy 21

characteristic: tag

text: Aneuploid chromosome number - trisomy

text: GM03716 male affected Aneuploid chromosome number - trisomy sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Glycogen storage disease ib

text: 5 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Type Ib;Panamanian Ind;severe hypoglycemia;lactic acidosis;and neutropenia;liver biopsy shows G6P transport defect

characteristic: description

text: PANAMA INDIAN

text: Homo sapiens

text: Other

text: Male

text: Glycogen storage disease ib

text: GM03719 male affected Glycogen storage disease ib sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 25 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: See GM03721 Lymphoid;clinically unaffected mother of GM03722 and 03726

characteristic: family id

text: mother

text: Homo sapiens

text: Black

text: Female

text: Mucopolysaccharidosis type vi

text: GM03720 female unaffected Mucopolysaccharidosis type vi sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 25 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: See GM03720 Fibroblast;clinically unaffected

text: AFRICAN-AMERICAN

text: mother

text: Homo sapiens

characteristic: organism

text: Black

text: Female

text: Mucopolysaccharidosis type vi

text: GM03721 female unaffected Mucopolysaccharidosis type vi sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Mucopolysaccharidosis type vi

text: 3 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: 5% of normal arylsulfatase B activity;see GM03723 Lymphoid

text: proband

text: Homo sapiens

text: Black

characteristic: race

text: Female

text: Mucopolysaccharidosis type vi

text: GM03722 female affected Mucopolysaccharidosis type vi sample


text: Coriell

text: live

text: Generic

text: Mucopolysaccharidosis type vi

text: 3 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: 5% of normal arylsulfatase B activity;see GM03722 Fibroblast

text: proband

text: Homo sapiens

text: Black

text: Female

characteristic: sex

text: Mucopolysaccharidosis type vi

characteristic: tag

text: GM03723 female affected Mucopolysaccharidosis type vi sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 41 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: See GM03725 Lymphoid;clinically unaffected father of GM03722 and 03726

text: father

text: Homo sapiens

text: Black

text: Male

text: Mucopolysaccharidosis type vi

text: GM03724 male unaffected Mucopolysaccharidosis type vi sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: 41 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: See GM03724 Fibroblast;clinically unaffected

characteristic: description

text: AFRICAN-AMERICAN

characteristic: ethnicity

text: father

text: Homo sapiens

text: Black

text: Male

text: Mucopolysaccharidosis type vi

text: GM03725 male unaffected Mucopolysaccharidosis type vi sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 9 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Possible heterozygote

characteristic: family id

text: sister

text: Homo sapiens

text: Black

text: Female

text: Mucopolysaccharidosis type vi

text: GM03726 female unaffected Mucopolysaccharidosis type vi sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Central core disease of muscle

text: 53 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Weakness and positive muscle biopsy: no type II fibers and type I fibers have central cores;positive family history;46;XY/46;XY;t(7;11)(7pter>7q11::11p11> 11pter;11qter>11p11::7q11>7qter);balanced;94%/6%

text: proband

text: 46;XY;t(7;11)(7pter>7q11::11p11> 11pter;11qter>11p11::7q11>7qter) 3 /46;XY 47

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Translocated chromosome

text: Central core disease of muscle

text: GM03728 male affected Central core disease of muscle sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 7 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Growth and psychomotor retardation;mild dysmorphic features;bilateral coloboma of retina and choroidea;normal factor XII (Hageman) level

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Chromosome deletion

text: GM03733 male unaffected Chromosome deletion sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 22 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: At risk (50%);father had HD

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Huntington disease

characteristic: tag

text: HD

text: GM03745 female unaffected Huntington disease sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 24 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: At risk (50%);father had HD

characteristic: description

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Huntington disease

text: HD

text: GM03746 female unaffected Huntington disease sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 18 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: At risk (50%);father had HD

characteristic: family id

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Huntington disease

text: HD

text: GM03747 male unaffected Huntington disease sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 33 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son of GM03645;at risk (50%);mother;aunt;and uncle have HD

text: nephew

text: Homo sapiens

text: Caucasian

text: Male

text: Huntington disease

text: HD

text: GM03748 male unaffected Huntington disease sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 44 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Typical phenotype;mother;2 brothers;and a sister are also affected;see GM03755 Fibroblast;expansion of CTG repeat is <1.5 kb detectable by Southern analysis corresponding to up to 500 CTG repeats;heterozygous for a C-to-T substitution at nucleotide 677 that converts an alanine to a valine residue in the methylenetetrahydrofolate reductase (MTHFR) gene (677C-T)

text: proband

text: DMPK;MTHFR

characteristic: gene

text: (CTG)n EXPANSION

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Dystrophia myotonica protein kinase

text: DMPK

text: MTHFR

text: Dystrophia myotonica 1

text: 5,10-methylenetetrahydrofolate reductase

text: GM03756 male affected DM1 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: DMPK

text: 33 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: EMG myotonia;myotonic face;distal weakness and atrophy;positive family history;affected daughter is GM03696C Lymphoid;expansion of CTG repeat is greater than or equal to 4.5 kb by Southern analysis corresponding to up to 2000 CTG repeats

text: proband

text: DMPK

text: (CTG)n EXPANSION

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Dystrophia myotonica protein kinase

text: DMPK

text: Dystrophia myotonica 1

text: GM03759 male affected DMPK sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 3 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinical features of 18p-;lymphocytes show 70% 18p- and 30% i(18q)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: 18p- syndrome

characteristic: tag

text: Chromosome deletion

text: GM03767 male unaffected 18p- syndrome sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 16 FW

characteristic: age

characteristic: cell line

text: Amniotic fluid-derived cell line

text: NIGMS Human Genetic Cell Repository

characteristic: description

text: Homo sapiens

text: Caucasian

text: Male

text: Aneuploid chromosome number - trisomy

text: Aneuploid chromosome number - trisomy 18

text: GM03769 male unaffected Aneuploid chromosome number - trisomy sample

characteristic: title


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: TSD

text: 15 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Jewish;variant;HEX A deficiency in white cells and lymphoblasts;mild dysarthria;3 similarly affected sibs;donor subject is a compound heterozygote: one allele has a G>A transition at nucleotide 805 in exon 7 of the HEXA gene 805G>A resulting in a substitution of serine for glycine at codon 269 Gly269Ser (G269S) and a second allele has a 4 base pair insertion in exon 11 of the HEXA gene 1278_1279insTATC resulting in a premature termination signal.

text: JEWISH

characteristic: ethnicity

characteristic: family id

text: proband

text: HEXA

characteristic: gene

characteristic: mutation

text: 4-BP INS

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Tay-sachs disease

text: Hexosaminidase a

text: TSD

text: HEXA

text: GM03770 male affected TSD sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Tay-sachs disease

text: 13 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Jewish;severe tremor;moderate ataxia;mild dysarthria;hexosaminidase A deficiency in white cells and lymphoblasts

text: JEWISH

text: brother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Tay-sachs disease

text: TSD

text: GM03771 male affected Tay-sachs disease sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Tay-sachs disease

text: 11 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Jewish;mild ataxia and hand tremors;hexosaminidase A deficiency in white cells and lymphoblasts;twin of GM03773

text: JEWISH

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Tay-sachs disease

characteristic: tag

text: TSD

text: GM03772 male affected Tay-sachs disease sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Tay-sachs disease

text: 11 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Jewish;mild ataxia and hand tremors;hexosaminidase A deficiency in white cells and lymphoblasts;twin of GM03772

characteristic: description

text: JEWISH

characteristic: ethnicity

characteristic: family id

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Tay-sachs disease

text: TSD

text: GM03773 male affected Tay-sachs disease sample

characteristic: title


characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 16 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Turner syndrome mosaic;72% of cells lack the i(Y)

text: 46;X;+frag 36 /46;X;i(Y)(qter>q10::q10>qter) 14;46;Y;+fra(X)(q27.3) 36 /46;X;i(Y)(qter->q10::q10->qter) 14 .arr Yp11.31(2758970-3076489)x1 2;Yp11.2(7023887-8627175)x1 2

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Turner syndrome

text: GM03774 female unaffected Aneuploid chromosome number - non-trisomic sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: DMD

text: 11 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Latin American;elevated serum CPK;similarly affected sib;see GM03781 Fibroblast;46;XY;PCR analysis of dystrophin gene shows deletion starting at exon 2 or 3 through at least exon 17;exon 19 is not deleted

text: SPANISH

text: proband

text: DMD

characteristic: gene

text: 46;XY;46;XY.arr Xp21.1(32463660-32884709)x0

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Muscular dystrophy: duchenne type

text: DMD

text: Dystrophin

text: GM03780 male affected DMD sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: DMD

text: 11 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Latin American;elevated serum CPK;similarly affected sib;see GM03780 Lymphoid;PCR analysis of lymphoblast dystrophin gene shows a deletion starting at exon 2 or 3 through at least exon 17;exon 19 is not deleted

text: SPANISH

text: proband

text: DMD

text: arr Xp21.1(32463660-32882465)x0

text: Homo sapiens

text: Caucasian

text: Male

text: Muscular dystrophy: duchenne type

characteristic: tag

text: DMD

text: Dystrophin

text: GM03781 male affected DMD sample


characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: DMD

text: 10 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Latin American;elevated serum CPK;see GM03783 Fibroblast;PCR analysis of dystrophin gene shows deletion starting at exon 2 or 3 through at least exon 17;exon 19 is not deleted;MLPA analysis of Dystrophin gene alterations and copy number variation (CNV) analysis using the Affymetrix 6.0 gene chip performed on DNA made from this culture showed the deletion of exons 3-17

characteristic: description

text: SPANISH

characteristic: ethnicity

characteristic: family id

text: brother

text: DMD

text: arr Xp21.1(32463660-32882465)x0

text: Homo sapiens

text: Caucasian

text: Male

text: Muscular dystrophy: duchenne type

text: DMD

text: Dystrophin

text: GM03782 male affected DMD sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: DMD

text: 10 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;Latin American;wheelchair bound by age 9;tight heelcords;range of motion of all major joints is intact;muscle strength in upper extremities shows fair + muscle strength of proximal muscle groups and a fair + to good - of distal muscle groups;muscles in lower extremities are one grade lower compared to upper extremities;straight back;elevated serum CPK of 9;654;PCR analysis of lymphoblast dystrophin gene shows deletion starting at exon 2 or 3 through at least exon 17;exon 19 is not deleted;affected brother is GM03780/GM03781;same donor as GM03782 (lymphocyte).

text: SPANISH

text: brother

text: DMD

characteristic: gene

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Muscular dystrophy: duchenne type

text: DMD

text: Dystrophin

text: GM03783 male affected DMD sample