text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 41 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND14402

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Control

text: Population/convenience control

text: ND14404 female unaffected Control sample


status: PUBLIC

tag: attribute

characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Low set ears;loose skin;broad neck

characteristic: description

characteristic: karyotype

text: Homo sapiens

text: African American

characteristic: race

text: Male

characteristic: sex

characteristic: tag

text: Isochromosome

text: GM08403 male affected Aneuploid chromosome number - non-trisomic sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 76 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Control

text: Population/convenience control

text: ND14407 male unaffected Control sample


characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 75 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Paternal uncle of a female (GM08352) with a balanced chromosome translocation;clinically normal;46;XY;8% of cells show random chromosome loss and 4% are tetraploid

text: paternal uncle

text: Homo sapiens

text: Caucasian

text: Male

text: Apparently healthy non-fetal tissue

text: GM08428 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: Amyotrophic lateral sclerosis 1

text: 76 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND14407

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Amyotrophic lateral sclerosis 1

text: ND14408 female affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

text: live

text: Generic

text: Hypophosphatasia

text: 8 MO

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: See GM08373 Lymphoid;similarly affected sib;46;XX;expired at age 19 mo

characteristic: description

text: ITALIAN

characteristic: ethnicity

text: proband

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Phosphoethanolaminuria - 241500 or 241510

text: Hypophosphatasia

text: GM08435 female affected Hypophosphatasia sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 52 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND14412

text: spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Control

characteristic: tag

text: Population/convenience control

text: ND14411 male unaffected Control sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: AT

text: 5 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Ataxia;ocular telangiectasias;immune deficiency;submitter observed chromosome instability;including multiple rearrangements of chromosome #7 and/or #14 in 11% of PBL;PBL show increased chromo breakage after bleomycin;negative family history;see GM08391A Fibroblast;the paternal allele is a 4bp deletion at nucleotide 4642 (4642delGATA) resulting in a frameshift and a truncation at codon 1548 Asp1548ter (D1548fsX);the maternal allele is a substitution (G>T) at nucleotide 5932 leading to the skipping of exon 42 and a truncation at codon 1978 (E1978X)

characteristic: family id

text: proband

text: ATM

characteristic: gene

text: 46;XY;46;XY;12% of cells are abnormal;abnormal #7 &/or 14 in 2% of cells;8% of cells show breakage

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: AT

text: Ataxia-telangiectasia

text: Ataxia-telangiectasia mutated gene

text: ATM

text: GM08436 male affected AT sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: Amyotrophic lateral sclerosis 1

text: 54 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Amyotrophic lateral sclerosis 1

text: ND14412 female affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 64 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Japanese;XP2YO(SV);SV40 transformed XP2YO skin fibroblasts (GM04313D);mild symptoms of XP with a squamous cell carcinoma of the lower lip;died of bile duct cancer at age 65;10% of normal post UV unscheduled DNA synthesis

characteristic: description

text: JAPANESE

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Asian

text: Female

text: XPF

text: GM08437 female affected Xeroderma pigmentosum, complementation group f sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 45 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND14418

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

characteristic: tag

text: Amyotrophic lateral sclerosis 1

text: ND14417 female affected Amyotrophic lateral sclerosis 1 sample

characteristic: title


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: Glycogen storage disease vii

text: 48 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Late onset;easily fatigued;increased reticulocyte count;failure to produce lactate after exercise;myopathic EMG;muscle biopsy showed increased polysaccharide (partly diastase digestible) & PFK deficiency;normal creatinine kinase

text: JEWISH

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Glycogen storage disease vii

text: GM08443 female affected Glycogen storage disease vii sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 43 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND14440

characteristic: family id

text: unaffected spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Control

text: Population/convenience control

text: ND14437 female unaffected Control sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Wound healing disorder

text: 46 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Negative family history;onset at age 44;several spontaneous pneumothoracies;apparent defect in secondary scar formation in muscle;fascia;and dermis;possible collagen or ground substance proteoglycan defect

text: Homo sapiens

text: Caucasian

text: Male

text: Wound healing disorder

text: GM08444 male affected Wound healing disorder sample


text: Coriell

text: live

text: Generic

text: 56 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected spouse of ND14442

characteristic: description

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Control

text: Population/convenience control

text: ND14438 female unaffected Control sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 2 DA

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Skin biopsy (right ear tag);46;XX;10% of cells show random chromosome loss/gain

characteristic: karyotype

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Apparently healthy non-fetal tissue

text: GM08447 female unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

text: Generic

text: Primary lateral sclerosis

text: 48 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND14437

text: proband

text: Homo sapiens

text: American Indian

text: Male

text: Primary lateral sclerosis

characteristic: tag

text: ND14440 male affected Primary lateral sclerosis sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Sialic acid storage disease

text: 3 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Finnish;delayed psychomotor development associated with hypotonia and ataxia;increased sialic acid in urine

text: FINNISH

characteristic: ethnicity

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: SIASD

text: Sialic acid storage disease

text: GM08496 male affected Sialic acid storage disease sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Amyotrophic lateral sclerosis 1

text: 56 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND14438

characteristic: family id

text: proband

characteristic: gene

text: (GGGGCC)n EXPANSION

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND14442 male affected Amyotrophic lateral sclerosis 1 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Sialic acid storage disease

text: 28 YR

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Finnish;severe mental retardation with ataxia;increased sialic acid in urine

characteristic: description

text: FINNISH

text: Homo sapiens

text: Caucasian

text: Male

text: SIASD

text: Sialic acid storage disease

text: GM08497 male affected Sialic acid storage disease sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 70 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Ash Jewish

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: PD

characteristic: tag

text: Parkinson disease

text: ND14458 male affected Parkinson disease sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 27 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;B.S. Registry #42;SV40 transformed AG06040;short stature;microcephaly;triangular;elongated facies;mild micrognathia;adenocarcinoma of colon;subserous myoma of uterus;hypoplastic;anovulatory ovaries;increased sister chromatid exchange;reduced DNA ligase I activity;near tetraploid line: counts range from 85 to 102 chromosomes per cell;karyotype is abnormal with multiple breaks and rearrangements;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;this mutation was found in the fibroblast culture from this same donor (AG06040)

text: ASHKENAZI

characteristic: ethnicity

text: proband

text: Near tetraploid;chromosome counts range from 85 to 102;karyotype is abnormal with multiple breaks and rearrangements

characteristic: karyotype

text: 6-BP DEL/7-BP INS

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: BLM

text: Bloom syndrome

text: Recq protein-like 3

text: GM08505 female affected RECQL3 sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 66 YR

text: B-Lymphocyte

text: NINDS Repository

text: Ash Jewish

characteristic: family id

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Control

text: Population/convenience control

text: ND14459 female unaffected Control sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 37 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Normal glucose tolerance test;daughter of GM08275 and GM10069A

text: paternal second cousin

text: Homo sapiens

text: Caucasian

text: Female

text: GM08580 female unaffected Maturity-onset diabetes of the young type i sample


text: Coriell

text: live

text: Generic

text: 69 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND14475

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Als panel

characteristic: tag

text: Greater than 7 years survival

text: Amyotrophic lateral sclerosis 1

text: ND14474 female affected ALS1 sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Hypophosphatasia

text: 16 FW

text: Amniotic fluid-derived cell line

text: NIGMS Human Genetic Cell Repository

text: Deficient liver/bone/kidney alkaline phosphatase activity;abnormal ultrasound;affected sib is GM08373 Lymphoid & GM08435 & GM08690 Fibroblast

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Phosphoethanolaminuria - 241500 or 241510

text: Hypophosphatasia

text: GM08581 male affected Hypophosphatasia sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 70 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND14474

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Control

text: Population/convenience control

text: ND14475 male unaffected Control sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;brother;4 nephews;2 nieces;& a great-niece are affected

characteristic: family id

text: paternal great aunt

text: Homo sapiens

text: Caucasian

text: Female

text: Tuberous sclerosis

text: TS

text: GM08583 female unaffected Tuberous sclerosis sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Amyotrophic lateral sclerosis 1

text: 23 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: ITALIAN;ENGLISH

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND14489 male affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

text: live

text: Generic

text: 64 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically not affected;height;173 cm;weight;80.5 kg;CT scan of brain was normal except for possible calcifications in region of hypophyseal stalk;CT scan and MRI of head showed no abnormality;ultrasound of kidneys showed no evidence of angiomyolipomas;mitral valve prolapse;X-ray revealed demineralization and hypertrophic changes in the thoracic spine;family history of tuberous sclerosis;father of two affected children (GM08296 and GM08299) by two distinct marriages

characteristic: description

text: father

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Tuberous sclerosis

text: TS

text: GM08584 male unaffected Tuberous sclerosis sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 55 YR

text: B-Lymphocyte

text: NINDS Repository

text: ITALIAN

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

characteristic: tag

text: ND14490 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 1 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Microcephaly;VSD;hemangioma;seizures;trigonocephaly;long philtrum;prominent ears;& developmental delay;mother;(46;XX) is GM08587A

text: MEXICAN

text: proband

text: 46;XY;der(6)t(5;6)(6pter->6q27::5q34->5qter)pat.arr 5q34q35.3(162008393-180652396)x3;6q27(165085520-170824447)x1;46;XY;der(6)t(5;6)(6pter>6q25.3::5q33.3>5qter)pat

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Translocated chromosome

text: GM08585 male unaffected Copy number variation (cnv) refernece panel 02 sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 56 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND14492

characteristic: family id

text: unaffected spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Control

text: Population/convenience control

text: ND14491 male unaffected Control sample


text: Coriell

text: live

text: Generic

text: 35 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Spouse (46;XX) is GM08587A

text: MEXICAN

characteristic: ethnicity

text: father

text: 46;XY;t(5;6)(5pter>5q33.3::6q25.3>6qter;6pter>6q25.3::5q33.3>5qter)

text: Homo sapiens

text: Caucasian

text: Male

text: Translocated chromosome

text: GM08586 male unaffected Translocated chromosome sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Primary lateral sclerosis

text: 55 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Primary lateral sclerosis

text: ND14492 female affected Primary lateral sclerosis sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 33 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: 46;XX;4% of cells show random chromosome loss and 2% are tetraploid;spouse of GM08586A {46;XY;t(5;6)};mother of GM08585A {46;XY;-6;+der(6);t(5;6)}

characteristic: description

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Apparently healthy non-fetal tissue

characteristic: tag

text: GM08587 female unaffected Apparently healthy non-fetal tissue sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 64 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND14499

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Amyotrophic lateral sclerosis 1

text: ND14498 female affected Amyotrophic lateral sclerosis 1 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: See GM07713B Lymphoid

text: grandmother

text: Homo sapiens

text: Caucasian

text: Female

text: PMD

text: Pelizaeus-merzbacher disease

text: GM08589 female unaffected Pelizaeus-merzbacher disease sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 70 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND14498

characteristic: family id

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Control

text: Population/convenience control

text: ND14499 male unaffected Control sample


text: Coriell

text: live

text: Generic

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Homozygous HLA type: A2;B40;DR8;& Dw8;consanguineous parents;line MADURA

text: Homo sapiens

text: Caucasian

text: Female

text: GM08598 female unaffected HLA HISTOCOMPATIBILITY TYPE: 142800 THROUGH 142860 & 142880 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 45 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: ND14500 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Homozygous HLA type: A2;B18;DRw6;& Dw9;consanguineous parents;line ABU

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: GM08600 male unaffected HLA HISTOCOMPATIBILITY TYPE: 142800 THROUGH 142860 & 142880 sample


text: Coriell

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 69 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Amyotrophic lateral sclerosis 1

text: ND14502 female affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Homozygous HLA type: A2;Bw16;DR2;and Dwtb24;consanguineous parents;line WT87

characteristic: description

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: GM08601 male unaffected HLA HISTOCOMPATIBILITY TYPE: 142800 THROUGH 142860 & 142880 sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 73 YR

text: B-Lymphocyte

text: NINDS Repository

text: ITALIAN

characteristic: ethnicity

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND14508 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Homozygous HLA type: A11;B35;& DR1;consanguineous parents;line WT100

text: Homo sapiens

text: Caucasian

text: Male

text: GM08602 male unaffected HLA HISTOCOMPATIBILITY TYPE: 142800 THROUGH 142860 & 142880 sample


text: Coriell

text: live

text: Generic

text: 69 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: SCOTTISH;IRISH

characteristic: family id

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND14509 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Homozygous HLA type: A9;B35;DR2;& Dwtb24;consanguineous parents;line UCA

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: GM08604 male unaffected HLA HISTOCOMPATIBILITY TYPE: 142800 THROUGH 142860 & 142880 sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 70 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Italian

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND14510 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 2 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Developmental delay;flat;broad nose;epicanthal folds;external ear malformation;low set ears;high arched palate;hoarse voice;partial absence of abdominal muscles;cryptorchidism;phimosis;vesicoureteral reflux;absent plantar furrows

characteristic: description

characteristic: karyotype

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Chromosome deletion

text: GM08618 male unaffected Chromosome deletion sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 53 WK

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND14529

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Control

characteristic: tag

text: Population/convenience control

text: ND14526 female unaffected Control sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 29 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Amish;clinically unaffected;obligate heterozygote;proband not in Repository;spouse of GM08661

text: AMISH

characteristic: ethnicity

text: parent

text: Homo sapiens

text: Caucasian

text: Male

text: CHH

text: Cartilage-hair hypoplasia

text: GM08660 male unaffected Cartilage-hair hypoplasia sample


text: Coriell

text: live

text: Generic

text: 79 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND14531

characteristic: family id

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Control

text: Population/convenience control

text: ND14527 male unaffected Control sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 27 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Amish;clinically unaffected;obligate heterozygote;proband not in Repository;spouse of GM08660

text: AMISH

text: parent

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: CHH

text: Cartilage-hair hypoplasia

text: GM08661 female unaffected Cartilage-hair hypoplasia sample


text: Coriell

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 56 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected spouse is ND14526

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND14529 male affected Amyotrophic lateral sclerosis 1 sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 35 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Amish;clinically unaffected;obligate heterozygote;proband not in Repository;spouse of GM08663

text: AMISH

text: parent

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: CHH

text: Cartilage-hair hypoplasia

text: GM08662 male unaffected Cartilage-hair hypoplasia sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Amyotrophic lateral sclerosis 1

text: 83 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffeced spouse is ND14527

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: Amyotrophic lateral sclerosis 1

text: ND14531 female affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 34 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Amish;clinically unaffected;obligate heterozygote;proband not in Repository;spouse of GM08662

text: AMISH

characteristic: ethnicity

text: parent

text: Homo sapiens

text: Caucasian

text: Female

text: CHH

text: Cartilage-hair hypoplasia

text: GM08663 female unaffected Cartilage-hair hypoplasia sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 67 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinsons panel: caucasian from north america

text: PD

text: Parkinson disease

text: ND14536 male affected Parkinson disease sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 32 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Amish;clinically unaffected;obligate heterozygote;proband not in Repository;spouse of GM08665

text: AMISH

text: parent

text: Homo sapiens

text: Caucasian

text: Male

text: CHH

text: Cartilage-hair hypoplasia

text: GM08664 male unaffected Cartilage-hair hypoplasia sample


text: Coriell

text: live

text: Generic

text: 74 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected spouse of ND14536

characteristic: description

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Control

text: Population/convenience control

text: ND14537 female unaffected Control sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 27 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Amish;clinically unaffected;obligate heterozygote;proband not in Repository;spouse of GM08664

text: AMISH

text: parent

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: CHH

text: Cartilage-hair hypoplasia

text: GM08665 female unaffected Cartilage-hair hypoplasia sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Amyotrophic lateral sclerosis 1

text: 60 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND14555

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Amyotrophic lateral sclerosis 1

text: ND14554 female affected Amyotrophic lateral sclerosis 1 sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Porphyria cutanea tarda

text: 32 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Mild clinical symptoms;skin fragility and photosensitivity manifest at age 6;3 unaffected children;elevated urinary porphyrins;elevated stool and urine isocoproporphyrin;27% of RBC & 3% of lymphoid normal UROD activity;5% of normal UROD RBC protein

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Porphyria cutanea tarda

characteristic: tag

text: GM08668 male affected Porphyria cutanea tarda sample


text: Coriell

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 45 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Italian;European;American Indian;czeck

characteristic: ethnicity

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND14559 male affected Amyotrophic lateral sclerosis 1 sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 63 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically unaffected;normal hematogical data & porphyrin output;68% of normal uroporphyrinogen decarboxylase activity in erythrocytes;approx 60% of normal UROD RBC protein;Hepatoerythropoietic Porphyria carrier

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Porphyria cutanea tarda

text: GM08669 male unaffected Porphyria cutanea tarda sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Progressive supranuclear palsy

text: 66 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Progressive supranuclear palsy

text: ND14562 male affected Progressive supranuclear palsy sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 60 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;normal hematogical data & porphyrin output;68% of normal UROD activity in erythrocytes & 50% in lymphoid culture;approx 60% of normal UROD RBC protein;Hepatoerythropoietic Porphyria carrier

characteristic: description

text: mother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Porphyria cutanea tarda

text: GM08670 female unaffected Porphyria cutanea tarda sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 59 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Control

text: Population/convenience control

text: ND14563 female unaffected Control sample


text: Coriell

text: live

text: Generic

text: 1 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Developmental delay;tracheomalacia;minor anomalies including scaphocephaly;narrow bifrontal diameter with decreased lateral scalp hair frontally;posteriorly rotated auricles;variant palmar crease patterns on hands;& hypertonia

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: GM08681 male unaffected Aneuploid chromosome number - non-trisomic sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 46 YR

text: B-Lymphocyte

text: NINDS Repository

text: Has A4V MUTATION;unaffected spouse is ND14589;

text: hungarian;english-welsh

characteristic: ethnicity

characteristic: family id

text: proband

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Amyotrophic lateral sclerosis 1

text: ND14588 female affected Amyotrophic lateral sclerosis 1 sample

characteristic: title


characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Glycogen storage disease vii

text: 17 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Two first cousins are also affected;58% of normal RBC PFK activity;red cell PFK is completely resistant to precipitation by anti-M subunit antibody;mild reticulocytosis;muscle weakness;easily fatigued;myoglobinuria after exertion

text: JEWISH

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Glycogen storage disease vii

text: GM08683 female affected Glycogen storage disease vii sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 45 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND14588

characteristic: description

text: Irish;english;european mix

text: spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Control

text: Population/convenience control

text: ND14589 male unaffected Control sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Recurrent episodes of vomiting;diarrhea;hypoglycemia;failure of ketosis;coma;and low plasma carnitine levels;deficient fibro medium-chain Acyl CoA dehydrogenase activity;donor subject is a compound heterozygote: one allele has an A>G transition at nucleotide 985 in exon 11 of the ACADM (MCAD) gene (c.985A>G) resulting in a substitution of glutamic acid for lysine at codon 304 Lys304Glu (K304E)also known as K329E and the second allele has a G>A transition at nucleotide 347 in exon 5 (c.347G>A) resulting in a substitution of tyrosine for cysteine at codon 116 Cys116Tyr (C116Y)also known as C91Y;donor subject is also heterozygous for the following polymorphisms: c.-34T>C (5 prime UTR);IVS2-20T>C;IVS3+10T>C;c.351A>C (p.T117);and IVS5+32C>G

text: ACADM

characteristic: gene

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ACADM

text: Acyl-coa dehydrogenase, medium-chain

text: GM08684 female affected ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 51 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND14604 female unaffected Population/convenience control sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Burkitt lymphoma

text: 5 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Line IARC/BL16;stage III abdominal lymphoma;African;46;XX;t(8;14)(q24.1;q32.3);4p+;14p+;16% of cells do not have the 4p+ and 14p+ marker chromosomes;pseudodiploid

text: AFRICAN

characteristic: ethnicity

text: 46;XX;t(8;14)(q24.1;q32.3)/46;XX;t(8;14) (q24.1;q32.3);4p+;14p+

characteristic: karyotype

text: Homo sapiens

text: Black

text: Female

text: Burkitt lymphoma

text: BL

text: GM08686 female affected Burkitt lymphoma sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 69 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND14605 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Burkitt lymphoma

text: 3 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Line IARC/BL18;abdominal tumor;iliac fossa tumor;Algerian;46;XY;t(8;14) (8pter>8q24::14q32>14qter;14pter>14q32:: 8q24>8qter)

characteristic: description

text: ALGERIAN

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

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Burkitt lymphoma

text: BL

text: GM08687 male affected Burkitt lymphoma sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 47 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: sister

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND14606 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Burkitt lymphoma

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Line IARC/LY47;Ugandan;46;XY;t(8;22) (8pter>8q24::22q11>22qter;22pter>22q11:: 8q24>8qter);68% of cells were 47;XY;+7;+der(1)t(1;16);-16;t(8;22);t(10;16)

text: AFRICAN

text: 46;XY;t(8;22)(8pter>8q24::22q11>22qter;22pter>22q11::8q24>8qter);46;XY;t(8;22)(8pter>8q24::22q11>22qter;22pter>22q11::8q24>8qter) 43 / 47;XY;+7;+der(1)(qter>p12::16p12>16pter);-16;t(8;22)(8pter>8q24::22q11>22qter;22pter>22q11::8q24>8qter);dic(10;16)(10qter>10p15::16p12>16qter) 17 .ish t(8;22)(myc+;myc+)

text: Homo sapiens

text: Black

text: Male

text: Burkitt lymphoma

text: BL

text: GM08688 male affected Burkitt lymphoma sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Amyotrophic lateral sclerosis 1

text: 77 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Amyotrophic lateral sclerosis 1

text: ND14644 female affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Burkitt lymphoma

text: 7 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Line IARC/LY91;stage B right ovary tumor;Ugandan

text: AFRICAN

characteristic: ethnicity

text: 46;XX;t(2;8)(2qter>2p12::8q24>8qter;8pter>8q24::2p12>2pter);46;XX;t(2;8)(2qter>2p12::8q24>8qter;8pter>8q24::2p12>2pter)

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Black

text: Female

text: Burkitt lymphoma

text: Translocated chromosome

text: BL

text: GM08689 female affected Burkitt lymphoma sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 72 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND14644

characteristic: description

text: spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Control

text: Population/convenience control

text: ND14645 male unaffected Control sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Hypophosphatasia

text: 2 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: See GM08373 Lymphoid;similarly affected sib is GM08581 Amniotic;46;XX;same patient as GM08435;parents are GM08371 and GM08372 Lymphoid;expired at age 19 mo;deficient liver/bone/kidney alkaline phosphatase activity

text: ITALIAN

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Phosphoethanolaminuria - 241500 or 241510

characteristic: tag

text: Hypophosphatasia

text: GM08690 female affected Hypophosphatasia sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Intracranial aneurysm - unruptured

text: 19 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND14658 female affected Intracranial aneurysm - unruptured sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 20 FW

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Achilles tendon biopsy fibroblast culture;both parents have normal karyotypes

text: Homo sapiens

text: Caucasian

text: Male

text: Duplicated chromosome

text: GM08696 male unaffected Duplicated chromosome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 63 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND12975

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Control

text: Population/convenience control

text: ND14669 male unaffected Control sample


text: Coriell

text: live

text: Generic

text: 1 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Instability of heterochromatin of chromosomes #1;#9;and #16 with variable combined immunodeficiency;dysmorphic facial features;developmental delay;malabsorption;and recurrent infections;see GM08747 Fibroblast;donor subject is a compound heterozygote: one allele has a G>A transition at nucleotide 1807 (1807G>A) of the DNMT3B gene resulting in an Ala to Thr substitution at codon 603 Ala603Thr (A603T);the mutation occurring in a region between motifs I and IV within the catalytic domain of DNMT3B;the second allele has a G>A transition within intron 22 located 11 nucleotides 5-prime of the normal splice acceptor site IVS22AS;G>A;-11 resulting in the generation of a novel splice acceptor site and a 9-bp insertion in the processed RNA. This results in the insertion of 3 amino acids (serine;threonine;and proline) at codon 744 (744ins3). The insertion was within the conserved region of the catalytic domain;which is likely to be disrupted by the insertion of a proline residue. This mutation was de novo.

characteristic: description

text: proband

characteristic: gene

characteristic: karyotype

characteristic: mutation

text: G>A

text: Homo sapiens

text: Caucasian

text: Female

text: GM08714 female affected Immunodeficiency-centromeric instability-facial anomalies syndrome sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 52 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND14681

characteristic: family id

text: spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Control

text: Population/convenience control

text: ND14677 female unaffected Control sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 26 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;normal 46;XX karyotype;affected daughter is GM08714;donor subject is an obligate heterozygote: one allele has a G>A transition at nucleotide 1807 (1807G>A) of the DNMT3B gene resulting in an Ala to Thr substitution at codon 603 Ala603Thr (A603T);the mutation occurring in a region between motifs I and IV within the catalytic domain of DNMT3B

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Dna methyltransferase 3b

characteristic: tag

text: Apparently healthy non-fetal tissue

text: GM08728 female unaffected Immunodeficiency-centromeric instability-facial anomalies syndrome sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 43 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected spouse of ND14682

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Control

text: Population/convenience control

text: ND14678 female unaffected Control sample


text: Coriell

text: live

text: Generic

text: 30 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;normal 46;XY karyotype

characteristic: description

text: father

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Apparently healthy non-fetal tissue

text: Immunodeficiency-centromeric instability-facial anomalies syndrome

text: GM08729 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 53 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND14677

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND14681 male affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Polycystic kidneys

text: 57 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Kidney cysts;liver cysts;son;2 daughters;mother;and granddaughter are also affected

text: mother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Polycystic kidneys

text: GM08739 female affected Polycystic kidneys sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 43 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected spouse is ND14678

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: Amyotrophic lateral sclerosis 1

text: ND14682 male affected Amyotrophic lateral sclerosis 1 sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Polycystic kidneys

text: 36 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Kidney cysts;mother;grandmother;2 sibs;and daughter are also affected;this patient is case #3 in a reference article in the journal Kidney International;vol. 58:2492-2501;2000

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Polycystic kidneys

text: GM08740 male affected Polycystic kidneys sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Amyotrophic lateral sclerosis 1

text: 37 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected spouse is ND14680

text: proband

text: Homo sapiens

text: Female

text: Amyotrophic lateral sclerosis 1

text: ND14683 female affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

text: live

text: Generic

text: Polycystic kidneys

text: 11 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Affected with kidney cysts at birth;affected father and paternal grandmother

characteristic: description

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Polycystic kidneys

text: GM08741 female affected Polycystic kidneys sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Parkinson disease

text: 75 YR

text: B-Lymphocyte

text: NINDS Repository

text: Ash Jewish

characteristic: ethnicity

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Parkinson disease

text: ND14720 male affected Parkinson disease sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Dna methyltransferase 3b

text: 1 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Instability of heterochromatin of chromosomes #1;#9;and #16 with variable combined immunodeficiency;dysmorphic facial features;developmental delay;malabsorption;and recurrent infections;see GM08714 Lymphoid;46;XX in fibroblasts;donor subject is a compound heterozygote: one allele has a G>A transition at nucleotide 1807 (1807G>A) of the DNMT3B gene resulting in an Ala to Thr substitution at codon 603 Ala603Thr (A603T);the mutation occurring in a region between motifs I and IV within the catalytic domain of DNMT3B;the second allele has a G>A transition within intron 22 located 11 nucleotides 5-prime of the normal splice acceptor site IVS22AS;G>A;-11 resulting in the generation of a novel splice acceptor site and a 9-bp insertion in the processed RNA. This results in the insertion of 3 amino acids (serine;threonine;and proline) at codon 744 (744ins3). The insertion was within the conserved region of the catalytic domain;which is likely to be disrupted by the insertion of a proline residue. This mutation was de novo.

characteristic: family id

text: proband

characteristic: gene

text: 46;XX;46;XX No chromosome instability is observed in Fibroblast culture

characteristic: karyotype

characteristic: mutation

text: G>A

text: Homo sapiens

text: Caucasian

text: Female

text: Dna methyltransferase 3b

text: GM08747 female affected Dna methyltransferase 3b sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Epilepsy

text: 2 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Other

characteristic: race

text: Male

characteristic: sex

text: Epilepsy

characteristic: tag

text: ND14722 male affected Epilepsy sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Gaucher disease type ii

text: 1 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Mexican;classic presentation with marked hepatosplenomegaly;retroflexion of head;strabismus;dysphagia;and hypertonicity;WBC show deficient glucocerebrosidase activity;see GM08760 Fibroblast;donor subject is homozygous for a T>C transition at nucleotide 1448 in exon 10 of the GBA gene 1448T>C resulting in a substitution proline for leucine at codon 444 Leu444Pro (L444P) (codons are numbered from the first codon of the mature protein;the cDNA is numbered from the first initiating AUG).

text: MEXICAN

text: proband

text: GBA

text: Homo sapiens

text: Caucasian

text: Male

text: GBA

text: Glucosidase acid beta

text: Gaucher disease type ii

text: GM08752 male affected Gaucher disease type ii sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 61 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND14730

characteristic: description

characteristic: family id

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Control

text: Population/convenience control

text: ND14726 male unaffected Control sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 25 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Mexican;clinically unaffected mother of an affected child (GM08752);donor subject has a T>C transition at nucleotide 1448 (1448T>C) in exon 10 of the GBA gene resulting in a substitution at codon 444;Pro for Leu Leu444Pro (L444P);codons are numbered from the first codon of the mature protein;the cDNA is numbered from the first initiating AUG

text: MEXICAN

characteristic: ethnicity

text: mother

text: GBA

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: GBA

text: Glucosidase acid beta

text: Gaucher disease type ii

text: GM08753 female unaffected Gaucher disease type ii sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: Amyotrophic lateral sclerosis 1

text: 60 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND14726

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

characteristic: tag

text: Amyotrophic lateral sclerosis 1

text: ND14730 female affected Amyotrophic lateral sclerosis 1 sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: 19 FW

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Achilles tendon biopsy;one sister and mother have the balanced translocation;a brother with the unbalanced translocation died at age 6 weeks;mother is GM09192 Lymphoid

text: proband

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Translocated chromosome

text: GM08755 male unaffected Translocated chromosome sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 47 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND14743

characteristic: description

characteristic: family id

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Control

text: Population/convenience control

text: ND14740 female unaffected Control sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: 25 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Non-diabetic;normal glucose tolerance test;daughter of GM08756

text: niece

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: GM08757 female unaffected Maturity-onset diabetes of the young type i sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 44 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND14742

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

characteristic: tag

text: Amyotrophic lateral sclerosis 1

text: ND14741 male affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Gaucher disease type ii

text: 1 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Mexican;classic presentation with marked hepatosplenomegaly;retroflexion of head;strabismus;dysphagia;and hypertonicity;WBC show defect in glucocerebrosidase activity;see GM08752A Lymph;donor subject is homozygous for a T>C transition at nucleotide 1448 (1448T>C) in exon 10 of the GBA gene resulting in a substitution at codon 444;Pro for Leu Leu444Pro (L444P) codons are numbered from the first codon of the mature protein;the cDNA is numbered from the first initiating AUG

text: MEXICAN

characteristic: ethnicity

text: proband

text: GBA

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: GBA

text: Glucosidase acid beta

text: Gaucher disease type ii

text: GM08760 male affected Gaucher disease type ii sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 38 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND14741

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Control

text: Population/convenience control

text: ND14742 female unaffected Control sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: Cystinosis

text: 43 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Photophobia;cystine crystals in cornea and conjunctiva;white blood cells and fibroblasts show increased cystine concentrations

characteristic: description

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Cystinosis

text: Adult nonnephropathic

text: GM08761 female affected Cystinosis sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 48 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected spouse is ND14740

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

characteristic: tag

text: Amyotrophic lateral sclerosis 1

text: ND14743 male affected Amyotrophic lateral sclerosis 1 sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Cranial synostosis;swallowing problems;micropenis;hand deformities;elevated immunoreactive trypsin;growth & developmental delay;see GM08762A Fibroblast

text: proband

text: 46;XY;del(7)(pter->p21::p14->qter).arr 7p21.3p14.3(8051654-34072811)x1;46;XY;del(7)(pter>p21.3::p13>qter)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Chromosome deletion

text: GM08763 male unaffected Chromosome deletion sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 39 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND14748

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Control

text: Population/convenience control

text: ND14745 female unaffected Control sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: Zellweger syndrome

text: 1 MO

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Abnormal facies;hypotonia;glaucoma with cloudy corneas;hydrocephalus;cystic kidney;elevated serum very longchain fatty acids;parents are first cousins;46;XY in lymphoblast culture

text: Homo sapiens

text: Caucasian

text: Male

text: Zellweger syndrome

text: ZS

text: GM08764 male affected Zellweger syndrome sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 47 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND14748 male affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

text: live

text: Generic

text: Multiple endocrine neoplasia type ii

text: 36 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Medullary carcinoma of the thyroid;father and 2 sibs have documented MEN-2;46;XY

characteristic: description

text: GERMAN/ITALIAN

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Multiple endocrine neoplasia type ii

text: GM08766 male affected Multiple endocrine neoplasia type ii sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 77 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND14761 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 4 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Hypoglycemic episodes assoc with seizures;low plasma carnitine;failure of ketosis;vomiting & lethargy with Reye's syndrome-like illness;5% of normal medium-chain Acyl CoA dehydrogenase act in fibro;homozygous for 985A>G {Lys304Glu (K304E)} mutation of ACADM (MCAD)

text: ACADM

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: ACADM

text: Acyl-coa dehydrogenase, medium-chain

text: GM08768 female affected ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: 47 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: daughter-in-law

text: Homo sapiens

text: Caucasian

text: Female

text: Control

text: Population/convenience control

text: ND14763 female unaffected Control sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Refsum disease

text: 9 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Severe developmental delay;facial dysmorphism;sensorineural hearing loss;severe visual impairment with retinitis pigmentosa;elevated serum phytanic and pipecolic acid;deficient fibro phytanic acid oxidase activity;increased ratio of C26/C22 very long chain fatty acids

characteristic: description

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Infantile form

text: Refsum disease

text: GM08769 male affected Refsum disease sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Amyotrophic lateral sclerosis 1

text: 71 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Amyotrophic lateral sclerosis 1

text: ND14764 male affected Amyotrophic lateral sclerosis 1 sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Refsum disease

text: 4 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Severe devel delay;facial dysmorphism;sensorineural hearing loss;severe visual impairment with ret pig;elev serum phytanic & pipecolic acid;defic fibro phytanic acid oxidase act;increas ratio of C26/C22 very long chain fatty acids

text: Homo sapiens

text: Caucasian

text: Male

text: Infantile form

characteristic: tag

text: Refsum disease

text: GM08770 male affected Refsum disease sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: Intracranial aneurysm - unruptured

text: 50 YR

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Intracranial aneurysm - unruptured

text: ND14775 male affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Peroxisome biogenesis factor 26

text: 4 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Complementation group 8;severe developmental delay;facial dysmorphism;sensorineural hearing loss;severe visual impairment with retinitis pigmentosa;elevated serum phytanic and pipecolic acid;deficient fibroblast phytanic acid oxidase activity;increased ratio of C26/C22 very long chain fatty acids;donor subject is a compound heterozygote: allele one has a T>C transition at nucleotide 2 of the PEX26 gene (2T>C);resulting in a Met1-to-Thr substitution in the initiator Met residue Met1Thr (M1T);the second allele has a T>C transition at nucleotide 134 (134T>C);resulting in a Leu45-to-Pro substitution Leu45Pro (L45P)

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Peroxisome biogenesis factor 26

text: Refsum disease, infantile form

text: GM08771 female affected Peroxisome biogenesis factor 26 sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 59 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND14787 female affected Intracranial aneurysm - unruptured sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Refsum disease

text: 10 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: description

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Infantile form

text: Refsum disease

text: GM08772 male affected Refsum disease sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 72 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: maternal aunt

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Subarachnoid hemorrhage

text: ND14788 female affected Subarachnoid hemorrhage sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: 7 MO

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Imperforate anus;vesicoureteral reflux;retinal pigmentary changes;short stature;microcephaly;small ears with left preauricular pit;& developmental delay;female genitalia;de novo translocation

text: 46;X;der(X)(Xqter->Xp22.2:: Yq11.2->Yqter).arr Xp22.33p22.2(108464-10580632)x1;Yq11.222q12(19755749-27209311)x1;6q26(162641784-162834267)x3;46;X;der(X)(Xqter>Xp22.1:: Yq11.2>Yqter)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Translocated chromosome

characteristic: tag

text: GM08773 female unaffected Translocated chromosome sample


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Amyotrophic lateral sclerosis 1

text: 42 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Italian;Irish;Welsch

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND14795 male affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 69 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically asymptomatic;RB gene carrier;a brother has unilateral retinoblastoma;Esterase D type 1;2

characteristic: description

text: ENGLISH

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Rb1 osteosarcoma, retinoblastoma-related included

text: Retinoblastoma

text: GM08774 female unaffected Retinoblastoma sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 63 YR

text: B-Lymphocyte

text: NINDS Repository

text: Polish;Russian

characteristic: family id

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: ND14796 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: 50 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: ENGLISH

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Retinoblastoma

text: GM08775 male unaffected Retinoblastoma sample


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Intracranial aneurysm - unruptured

text: 20 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

characteristic: tag

text: ND14803 female affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Retinoblastoma

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Unilateral retinoblastoma;right eye enucleated at age 13 mo;46;XX in peripheral blood lymphocytes;Esterase D type 1;1;a sister and 2 paternal cousins have bilateral retinoblastoma

text: ENGLISH

characteristic: ethnicity

text: proband

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Retinoblastoma

text: GM08776 female affected Retinoblastoma sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 23 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Subarachnoid hemorrhage

text: ND14805 female affected Subarachnoid hemorrhage sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 6 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Dysmorphic facial features and pancytopenia at birth;poor feeding;bilateral cryptorchidism;dilated cerebral ventricles;choanal stenosis;unilateral hydronephrosis;height;weight;& head circumference below the 3rd percentile

characteristic: description

text: 46;XY;del(3)(pter->q11.2::q21->qter).arr 3q11.2q21.3(95002155-129582223)x1;46;XY;del(3)(pter>q13.1::q21>qter)

text: Homo sapiens

characteristic: organism

text: Other

characteristic: race

text: Male

characteristic: sex

text: Chromosome deletion

text: GM08778 male unaffected Chromosome deletion sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 50 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Amyotrophic lateral sclerosis 1

text: ND14816 female affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 25 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: 46;XX;21s+;satellite area of one chromosome 21 appears darker than its homolog;at risk of having a child with sickle cell anemia;also is the mother of a son (GM06199 Fibro) with 46;XY;r(21)

text: AFRICAN-AMERICAN

text: mother

text: Homo sapiens

text: Black

text: Female

text: Hemoglobin--beta locus

characteristic: tag

text: HBB

text: GM08779 female unaffected Hemoglobin--beta locus sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Subarachnoid hemorrhage

text: 61 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Subarachnoid hemorrhage

text: ND14830 female affected Subarachnoid hemorrhage sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 1 DA

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Type II;mother has Marfan syn;infant died 30 min after birth;soft head;blue sclerae;short;bowed legs;low-set dysmorphic ears;broad;bowed long bones & beaded;wavy ribs;46;XY;makes 1 normal & 1 mutant pro alpha 1(I) collagen chain

text: SWISS

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: GM08781 male affected OSTEOGENESIS IMPERFECTA: AUTOSOMAL DOMINANT - 166200, 166210, 166220 or 166230 sample


text: Coriell

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 49 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected spouse is ND14835

characteristic: description

text: proband

text: Homo sapiens

text: African American

text: Female

text: Amyotrophic lateral sclerosis 1

text: ND14832 female affected Amyotrophic lateral sclerosis 1 sample

characteristic: title


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 5 MO

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Aniridia;developmental delay;46;XX;del(11)(pter>p14.2::p13>qter);1 copy of catalase gene

text: proband

text: 46;XX;del(11)(pter->p14::p13->qter).arr 11p14.1p13(29317382-35086212)x1;46;XX;del(11)(pter>p14.2::p13>qter)

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Wilms tumor 1

text: Chromosome deletion

text: GM08785 female unaffected Chromosome deletion sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 41 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected spouse of ND14832

characteristic: family id

text: spouse

text: Homo sapiens

text: African American

text: Male

text: Control

text: Ndpt111 - neurologicaly normal african american conrol panel

text: Population/convenience control

text: Ndpt031- african american control panel

text: ND14835 male unaffected Population/convenience control sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 31 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;46;XY in peripheral blood lymphocytes & lymphoid cell culture;4% loss of chromosome Y and 4% random chromosome loss

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: Wilms tumor 1

text: Apparently healthy non-fetal tissue

text: GM08786 male unaffected Apparently healthy non-fetal tissue sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 73 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected spouse is ND14845

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND14843 male affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

text: live

text: Generic

text: 28 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;46;XX in peripheral blood lymphocytes & lymphoid cell culture;2% random chromosome loss

text: mother

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Wilms tumor 1

text: Apparently healthy non-fetal tissue

text: GM08787 female unaffected Apparently healthy non-fetal tissue sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 67 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND14843

text: unaffected spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Control

text: Population/convenience control

text: ND14845 female unaffected Control sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 19 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: In addition to adrenal hypoplasia pt has preauricular tags;pectus excavatum;cryptorchidism;progressive muscle weakness;& elevated CPK;46;XY in fibroblast culture;positive family history;see GM10489 Lymphoid

text: proband

text: Homo sapiens

text: Black

text: Male

text: GM08788 male affected Adrenal hypoplasia with additional congenital malformations sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 68 YR

text: B-Lymphocyte

text: NINDS Repository

text: scottish;english

characteristic: ethnicity

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND14871 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 26 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Nonrecordable electroretinogram and visual evoked potentials;fingerprint inclusions in lymphocytes;twice the normal level of urinary dolichol;dysarthria;at age 25 became quadriplegic and was institutionalized

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: GM08794 male affected Ceroid lipofuscinosis, neuronal 3, juvenile sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 89 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: ash Jewish

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: ND14879 male affected Parkinson disease sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 11 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: At risk;son of GM08801

characteristic: description

text: nephew

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Polycystic kidneys

text: GM08799 male unaffected Polycystic kidneys sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Parkinson disease

text: 70 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Ash Jewish

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: PD

text: Parkinson disease

text: ND14881 female affected Parkinson disease sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 14 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: At risk;daughter of GM08801

characteristic: family id

text: niece

text: Homo sapiens

text: Caucasian

text: Female

text: Polycystic kidneys

text: GM08800 female unaffected Polycystic kidneys sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Parkinson disease

text: 63 YR

text: B-Lymphocyte

text: NINDS Repository

text: Ash Jewish

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Parkinson disease

text: ND14883 female affected Parkinson disease sample


text: Coriell

text: live

text: Generic

text: Polycystic kidneys

text: 38 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;mother of GM08799 and GM08800;mother and 2 sibs are also affected

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Polycystic kidneys

characteristic: tag

text: GM08801 female affected Polycystic kidneys sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 54 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND14928 male affected Amyotrophic lateral sclerosis 1 sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 3 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Postnatal growth retardation;prominent philtrum;hypoplastic mandible;dysplastic;large auricles;pectus excavatus;asymetrci thorax;bilateral digitus superductus;mental and statomotor retardation;hypotonia;microcephaly;hydrocephaly internus;hypoplasia of corpus callosum

characteristic: description

text: 46;XY;del(7)(pter->q32::q34->qter) or del(7)(pter->q34::q36->qter).ish del(7)(wcp7+;G31341+;G31340+);46;XY;del(7)(pter->q33::q36->qter).ish del(7)(wcp7+;G31341+;G31340+).arr 5q33.1(147340150-147464207)x1;7q33q36.2(136021033-154450217)x1;46;XY;del(7)(pter>q34:)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Chromosome deletion

text: GM08808 male unaffected Chromosome deletion sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 51 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: brother-in-law

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Control

text: Population/convenience control

text: ND14929 male unaffected Control sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 14 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Visual difficulties since age 5;retinal pigmentary changes at age 7;regression in cognitive functioning and difficulties with speech and coordination since age 10;1st generalized seizure at age 12;perceptual motor difficulties;normal urinary dolichol

text: Homo sapiens

text: Caucasian

text: Female

text: GM08820 female affected Ceroid lipofuscinosis, neuronal 3, juvenile sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 61 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: same subject as ND29541

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinson disease

characteristic: tag

text: ND14933 male affected Parkinson disease sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 36 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Multiple spontaneous abortions

text: 45;XX;der(14;15)(14qter>14q10::15q10>15qter);45;XX;t(14;15)(14qter>cen>15qter)

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Translocated chromosome

text: GM08828 female unaffected Translocated chromosome sample


text: Coriell

text: live

text: Generic

text: Epilepsy

text: 3 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Epilepsy

text: ND14936 female affected Epilepsy sample


text: Coriell

text: live

text: Generic

text: 72 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;2 children are affected

characteristic: description

text: JEWISH

characteristic: ethnicity

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Multiple sclerosis

text: MS

text: GM08829 male unaffected Multiple sclerosis sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 45 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND14941

text: spouse

text: Homo sapiens

text: Other

text: Female

text: Control

text: Population/convenience control

text: Ninds repository hispanic control plate- coaims tested

text: ND14939 female unaffected Control sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: Multiple sclerosis

text: 47 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;a sister is also affected;intermittent ataxia;double vision;numbness;and paresthesia;onset at age 24

text: JEWISH

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Multiple sclerosis

text: MS

text: GM08830 female affected Multiple sclerosis sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Amyotrophic lateral sclerosis 1

text: 40 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND14939

text: proband

text: Homo sapiens

text: Other

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND14941 male affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 70 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: JEWISH

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Multiple sclerosis

characteristic: tag

text: MS

text: GM08831 female unaffected Multiple sclerosis sample


text: Coriell

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 59 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND14945 male affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 17 DA

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected with partial ADA deficiency;Afghani;ADA activity is present in lymphocytes and absent in red cells;father is GM08834.

characteristic: description

text: AFGHANI

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Other

text: Male

text: GM08832 male affected Adenosine deaminase deficiency with no immunodeficiency sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 54 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND10844

text: unaffected spouse

text: Homo sapiens

text: Other

text: Male

text: Control

text: Population/convenience control

text: ND14950 male unaffected Control sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically unaffected;Afghani;affected child with partial adenosine deaminase deficiency is GM08832.

text: AFGHANI

text: father

text: Homo sapiens

text: Other

text: Male

characteristic: sex

text: GM08834 male unaffected Adenosine deaminase deficiency with no immunodeficiency sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Amyotrophic lateral sclerosis 1

text: 61 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND14956

text: proband

characteristic: gene

text: (GGGGCC)n EXPANSION

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND14954 male affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: TD

text: 1 DA

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Macrocephaly;macrocranium without evidence of craniosynostosis;severe shortening of the extremities;upper/lower segment ratio is 28/11;radiographs typical of thanatophoric dysplasia;expired on 1st day of life;donor subject has a C>T transition at nucleotide 742 in exon 6 of the FGFR3 gene (742C>T) resulting in a substitution of cysteine for arginine at codon 248 Arg248Cys (R248C)

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: TD

characteristic: tag

text: Thanatophoric dysplasia

text: Fibroblast growth factor receptor 3

text: GM08855 female affected TD sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 57 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Control

text: Population/convenience control

text: ND14956 female unaffected Control sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Thanatophoric dysplasia

text: 1 DA

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Expired a few hours after birth;radiographs consistent with thanatophoric dysplasia;negative family history

characteristic: description

text: HISPANIC

characteristic: ethnicity

text: Homo sapiens

text: Caucasian

text: Male

text: TD

text: Thanatophoric dysplasia

text: GM08856 male affected Thanatophoric dysplasia sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 57 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected spouse of ND14945

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Control

text: Population/convenience control

text: ND14960 female unaffected Control sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 34 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected father of GM08859;donor subject is heterozygous for a G>A transition at nucleotide 1138 of the FGFR3 gene resulting in the substitution of arginine for glycine at codon 380 Gly380Arg (G380R)

text: father

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Achondroplasia

text: ACH

text: Fibroblast growth factor receptor 3

text: GM08857 male affected FGFR3 sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 54 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: family id

text: sister-in-law

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Control

characteristic: tag

text: Population/convenience control

text: ND14961 female unaffected Control sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 30 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected mother of GM08859;donor subject is heterozygous for a G>A transition at nucleotide 1138 of the FGFR3 gene resulting in the substitution of arginine for glycine at codon 380 Gly380Arg (G380R)

characteristic: description

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Achondroplasia

text: ACH

text: Fibroblast growth factor receptor 3

text: GM08858 female affected FGFR3 sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Amyotrophic lateral sclerosis 1

text: 35 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Amyotrophic lateral sclerosis 1

text: ND14962 male affected Amyotrophic lateral sclerosis 1 sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 1 MO

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;marked rhizomelic shortening with characteristic trident hands;upper/lower segment ratio is 1.67;shorter femora;tibias;fibulas;and ribs than in heterozygous achondroplasia;both parents have achondroplasia;donor subject is homozygous for a G>A transition at nucleotide 1138 of the FGFR3 gene resulting in the substitution of arginine for glycine at codon 380 Gly380Arg (G380R)

text: proband

characteristic: gene

text: Homo sapiens

text: Caucasian

text: Female

text: Achondroplasia

text: ACH

text: Fibroblast growth factor receptor 3

text: GM08859 female affected FGFR3 sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 28 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected spouse of ND14962

characteristic: family id

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Control

text: Population/convenience control

text: ND14963 female unaffected Control sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 36 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Mother of a child with partial adenosine deaminase deficiency

text: AFRICAN-AMERICAN

characteristic: ethnicity

text: ARG296CYS AND SER486THR

characteristic: mutation

text: DEL

text: Homo sapiens

text: Black

characteristic: race

text: Female

text: Apparently healthy non-fetal tissue

characteristic: tag

text: GM08873 female unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Amyotrophic lateral sclerosis 1

text: 70 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Amyotrophic lateral sclerosis 1

text: ND14970 female affected Amyotrophic lateral sclerosis 1 sample

characteristic: title