characteristic: DNA id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son

text: UTAH/MORMON

text: son

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Ceph/utah pedigree 1333

characteristic: tag

text: GM07678 male unaffected Ceph/utah pedigree 1333 sample


status: PUBLIC

characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Als panel bulbar onset all definite als

tag: attribute

text: 70 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected spouse is ND13436

characteristic: description

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: sex

text: Als panel bulbar onset all definite als

text: Amyotrophic lateral sclerosis 1

text: ND13441 female affected Als panel bulbar onset all definite als sample

characteristic: title


characteristic: DNA id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son

text: UTAH/MORMON

characteristic: ethnicity

text: son

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Ceph/utah pedigree 1333

text: GM07679 male unaffected Ceph/utah pedigree 1333 sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 45 YR

text: B-Lymphocyte

text: NINDS Repository

text: ND13296 father of proband. ND13455 mother of proband.

text: ENGLISH;IRISH

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: Amyotrophic lateral sclerosis 1

text: ND13454 male affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 63 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: ENGLISH

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND13455 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 37 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: See GM01631 (fibroblast);XPHF1W1;clinically normal;father of GM01630;the donor subject is heterozygous for a G-to-C substitution at nucleotide 555 (555G>C) in exon 4 of the XPA gene with results in a missplice.

characteristic: description

text: father

text: XPA

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: XPA

text: GM07689 male unaffected Xeroderma pigmentosum, complementation group a sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 49 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND13462

characteristic: family id

text: unaffected spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: sex

text: Population/convenience control

text: ND13461 female unaffected Population/convenience control sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 33 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: See GM01632 (fibroblast);XPHM1W1;clinically normal;mother of GM01630;the donor subject is heterozygous for a G-to-C substitution at nucleotide 555 (555G>C) in exon 4 of the XPA gene with results in a missplice.

text: mother

text: XPA

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: XPA

text: GM07690 female unaffected Xeroderma pigmentosum, complementation group a sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Amyotrophic lateral sclerosis 1

text: 50 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND13461

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: Amyotrophic lateral sclerosis 1

text: ND13462 male affected Amyotrophic lateral sclerosis 1 sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: Muscular dystrophy: duchenne type

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Classical symptoms of DMD;also has Chronic Granulomatous Disease;elevated CPK;abnormal WBC NBT test;bactericidal defect with chronic aspergillosis pulmonary infection;PCR analysis of Dystrophin gene shows deletion starting at the 5 prime end and extends at least through exon 17;exon 19 is not deleted;MLPA analysis of Dystrophin gene alterations and copy number variation (CNV) analysis using the Affymetrix 6.0 gene chip performed on DNA made from this culture showed the deletion of exons 1-18 including alternate exon 1 (del 5 prime end-18);mother is GM07692.

text: JEWISH

characteristic: ethnicity

text: proband

text: DMD

text: 46;XY;46;XY.arr Xp21.1p11.4(32471148-37616741)x0;Xp11.23(47990695-48157416)x2;2q13(110061320-110519397)x3;8p23.1(7157886-7836249)x3;46;Y;del(X)(p21.1>p11.4)

characteristic: karyotype

text: EX1-18DEL (DEL 5 PRIME END-18)

text: Homo sapiens

text: Caucasian

text: Male

text: Muscular dystrophy: duchenne type

text: DMD

text: Chronic granulomatous disease (xk-related,cgd) - 306400 or 314850

text: Dystrophin

text: GM07691 male affected Muscular dystrophy: duchenne type sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 61 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: ND13491 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Proven carrier of Chronic Granulomatous Disease by the quantitative NBT test;normal CPK;46;XX;a mat uncle has questionable CGD;another maternal cousin related through a male has DMD (apparently incidental);PCR analysis of dystrophin gene shows deletion starting at the 5 prime end and extends at least through exon 17;exon 19 is not deleted;MLPA analysis of Dystrophin gene alterations and copy number variation (CNV) analysis using the Affymetrix 6.0 gene chip performed on DNA made from this culture showed the deletion of exons 1-18 including alternate exon 1 (del 5 prime end-18);affected son is GM07691.

characteristic: description

text: JEWISH

text: mother

text: DMD

characteristic: gene

text: EX1-18DEL (DEL 5 PRIME END-18)

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Muscular dystrophy: duchenne type

text: DMD

text: Dystrophin

text: GM07692 female unaffected Muscular dystrophy: duchenne type sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 51 YR

text: B-Lymphocyte

text: NINDS Repository

text: unaffected spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Population/convenience control

characteristic: tag

text: ND13492 female unaffected Population/convenience control sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Placenta biopsy;loose skin;scoliosis;small thorax;scaphoid abdomen;hypoplastic labia;right clinodactyly and camptodactyly;thenar hypoplasia;left camptodactyly;diaphragm hernia;pulmonary hypoplasia;bicornuate uterus;and absent right olfactory lobe

text: 46;X;t(X;10)(10qter->10q24.3::Xp11.2->Xqter;10pter->10q24.3::Xp11.2->Xpter).arr(1-22;X)x2;46;X;t(X;10)(Xqter>Xp11.2::10q24.3> 10qter;10pter>10q24.3::Xp11.2>Xpter)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Translocated chromosome

text: GM07693 female unaffected Translocated chromosome sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 77 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: ND13493 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Daughter

characteristic: description

text: UTAH/MORMON

characteristic: ethnicity

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Ceph/utah pedigree 13292

text: GM07694 female unaffected Ceph/utah pedigree 13292 sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Als panel bulbar onset all definite als

text: 66 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND12371

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Als panel bulbar onset all definite als

text: Amyotrophic lateral sclerosis 1

text: ND13502 male affected Als panel bulbar onset all definite als sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Lactic acidosis

text: 6 DA

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Egyptian;parents are first cousins;EEG abnormalities;seizure activity;expired at age 1 month of respiratory failure;high lactate/pyruvate ratio;fibroblasts show decreased ability to oxidize pyruvate & abnormal NAD to NADH ratio

text: EGYPTIAN

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Lactic acidosis

characteristic: tag

text: Congenital infantile

text: GM07711 male affected Lactic acidosis sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 43 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected spouse is ND13504

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND13503 male affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 23 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;affected brother;uncles;& nephew;possible heterozygote

characteristic: family id

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: PMD

text: Pelizaeus-merzbacher disease

text: GM07712 female unaffected Pelizaeus-merzbacher disease sample


text: Coriell

text: live

text: Generic

text: 44 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND13503

characteristic: description

text: unaffected spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Population/convenience control

text: ND13504 female unaffected Population/convenience control sample


text: Coriell

text: live

text: Generic

text: 68 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;2 affected sons;1 affected grandson;& 1 affected greatgrandson;see GM08589 Fibroblast

text: grandmother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: PMD

text: Pelizaeus-merzbacher disease

text: GM07713 female unaffected Pelizaeus-merzbacher disease sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 46 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND13511

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND13507 female unaffected Population/convenience control sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Marfan syndrome

text: 12 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Similarly affected mother;long face;high arched palate;genu valgum;mild scoliosis;tall;wide arm span;decreased U/L segment ratio;no chest or eye abnormalities;mitral valve prolapse;arachnodactyly;see GM07727A Lymphoid

text: proband

text: Homo sapiens

text: Black

text: Female

text: MFS

text: Marfan syndrome

text: GM07726 female affected Marfan syndrome sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 50 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND13507

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND13511 male affected Amyotrophic lateral sclerosis 1 sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: Marfan syndrome

text: 12 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Similarly affected mother;long face;high arched palate;genu valgum;mild scoliosis;tall;wide arm span;decreased U/L segment ratio;no chest or eye abnormalities;mitral valve prolapse;arachnodactyly;see GM07726 Fibroblast

text: proband

text: Homo sapiens

text: Black

characteristic: race

text: Female

text: MFS

characteristic: tag

text: Marfan syndrome

text: GM07727 female affected Marfan syndrome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Als panel bulbar onset all definite als

text: 63 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected spouse is ND13516

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Als panel bulbar onset all definite als

text: Amyotrophic lateral sclerosis 1

text: ND13514 female affected Als panel bulbar onset all definite als sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Fmr1 gene

text: 20 FW

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Placental fibroblast culture;2 affected maternal uncles have fra(X)(q27);6% of cultured amniotic fluid cells and 26% of placental fibroblasts showed the fra(X);affected male by Southern analysis

characteristic: gene

text: (CGG)n EXPANSION

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Fmr1 gene

text: Fragile x mental retardation syndrome

text: GM07730 male affected Fmr1 gene sample


text: Coriell

text: live

text: Generic

text: 67 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND13514

characteristic: description

characteristic: family id

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

characteristic: sex

text: Population/convenience control

text: ND13516 male unaffected Neurologically normal caucasian control panel sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 36 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Three affected sibs;possible heterozygote;clinically unaffected

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: CF

text: Cystic fibrosis

text: GM07731 female unaffected Cystic fibrosis sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 42 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND13521

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: tag

text: Amyotrophic lateral sclerosis 1

text: ND13520 male affected Amyotrophic lateral sclerosis 1 sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: CF

text: 31 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Two sibs are also affected;mild lung disease;mild maldigestion;elevated liver enzymes;normal polyps;positive sweat test;the donor subject carries two mutations in the CFTR gene: one allele carries the deltaF508 deletion mutation (PHE508DEL);a second allele carries a G to T substitution at nucleotide 310 (G310T) which converts the Glu-60 (GAG) codon to a nonsense codon (TAG) in exon 3 GLU60TER (E60X)

text: proband

text: CFTR

text: Homo sapiens

text: Caucasian

text: Female

text: CF

text: Cystic fibrosis

text: Cystic fibrosis transmembrane conductance regulator

text: CFTR

text: GM07732 female affected CF sample


text: Coriell

text: live

text: Generic

text: 36 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND13520

characteristic: description

characteristic: family id

text: unaffected spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Control

text: Population/convenience control

text: ND13521 female unaffected Control sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Cystic fibrosis

text: 29 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Two sibs also affected;minimal lung disease;minimal maldigestion;normal polyps;positive sweat test

text: sister

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: CF

text: Cystic fibrosis

text: GM07733 female affected Cystic fibrosis sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 45 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND13523

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Als panel upper-limb onset definite and probable als

text: Amyotrophic lateral sclerosis 1

text: ND13522 female affected ALS1 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 63 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Three affected children;monozygotic twin sister of GM07852;negative for F508;G551D;R553X;G542X;and N1303K mutations

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: CF

text: Cystic fibrosis

text: Monozygotic twin pairs

text: GM07734 female unaffected Cystic fibrosis sample


text: Coriell

text: live

text: Generic

text: 47 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND13522

text: spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Population/convenience control

characteristic: tag

text: ND13523 male unaffected Population/convenience control sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 71 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;3 affected nieces;possible heterozygote

text: maternal uncle

text: Homo sapiens

text: Caucasian

text: Male

text: CF

text: Cystic fibrosis

text: GM07735 male unaffected Cystic fibrosis sample


text: Coriell

text: live

text: Generic

text: 59 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected spouse is ND13527

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Primary lateral sclerosis

text: ND13526 female affected Primary lateral scleroris: caucasian, non-hispanic sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 1 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Micropenis;cryptorchidism;bilateral aniridia;optic nerve atrophy;see GM06938B Fibroblast;46;XY;del(11)(pter> p14.1::p13>qter);1 copy of catalase gene

characteristic: description

characteristic: family id

text: proband

text: 46;XY;del(11)(pter>p14.1::p13>qter);46;XY.arr 11p14.1p13(28229986-34925688)x1

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Wilms tumor 1

text: Chromosome deletion

text: Copy number variation (cnv) refernece panel 02

text: GM07736 male unaffected WT1 sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 62 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND13526

text: unaffected spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

characteristic: sex

text: Population/convenience control

text: ND13527 male unaffected Neurologically normal caucasian control panel sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 5 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Severe mental and growth retardation;RBCs show 38% of normal superoxide dismutase-1 activity

text: JAPANESE

characteristic: ethnicity

text: 45;X;der(X;21)(Xqter>Xp10::21q10>21qter) .ish dic(X;21)(DXZ1+;D21Z1+)

text: Homo sapiens

text: Asian

text: Female

text: Derivative chromosome

text: GM07743 female unaffected Derivative chromosome sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: Als panel bulbar onset all definite als

text: 62 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND13541

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: tag

text: Als panel bulbar onset all definite als

text: Amyotrophic lateral sclerosis 1

text: ND13539 male affected Als panel bulbar onset all definite als sample


text: Coriell

text: live

text: Generic

text: 36 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: At risk;hyperthymic personality onset at age 13;mother & sister have type II bipolar illness;see GM07749 Fibroblast

characteristic: description

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: GM07748 male unaffected Major affective disorder - 125480 or 309200 sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 69 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND13544

characteristic: family id

text: unaffected spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Population/convenience control

text: ND13540 male unaffected Neurologically normal caucasian control panel sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 36 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: At risk;hyperthymic personality onset at age 13;mother has unipolar illness and a sister has type II bipolar illness;see GM7748 Lymphoid

text: son

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: GM07749 male unaffected Major affective disorder - 125480 or 309200 sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 59 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND13539

text: unaffected spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND13541 female unaffected Neurologically normal caucasian control panel sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 17 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: See GM07753 Fibroblast;46;XY;12% of cells show random chromosome loss/gain;donor subject is heterozygous for the Cys282Tyr mutation (C282Y) of the HFE (HLA-H) gene

text: proband

text: HFE

characteristic: gene

characteristic: karyotype

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Hemochromatosis

text: Apparently healthy individuals with normal psychiatric evaluations

text: HFE

text: Apparently healthy non-fetal tissue

text: GM07752 male unaffected HFE sample


text: Coriell

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 66 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected spouse is ND13540

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: tag

text: Amyotrophic lateral sclerosis 1

text: ND13544 female affected Amyotrophic lateral sclerosis 1 sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 17 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Normal psychiatric evaluation;see GM7752 Lymphoid

characteristic: description

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

characteristic: sex

text: Apparently healthy non-fetal tissue

text: GM07753 male unaffected Apparently healthy individuals with normal psychiatric evaluations sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Amyotrophic lateral sclerosis 1

text: 42 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND13569

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Amyotrophic lateral sclerosis 1

text: ND13549 female affected Amyotrophic lateral sclerosis 1 sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Glycogen storage disease vii

text: 75 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Atypical;late onset myopathy;10 year history of proximal limb weakness without cramps;myoglobinuria;or hyperuricemia;1% of normal muscle PFK activity & 55% of normal RBC PFK activity;novel mutation in the M subunit of PFK

text: JEWISH

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Glycogen storage disease vii

text: GM07754 male affected Glycogen storage disease vii sample


text: Coriell

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 59 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected spouse is ND13551

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Amyotrophic lateral sclerosis 1

text: ND13550 female affected Amyotrophic lateral sclerosis 1 sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: Cystic fibrosis

text: 29 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Elevated sweat chloride;expired at age 29;2 similarly affected sibs

text: brother

text: Homo sapiens

text: Black

characteristic: race

text: Male

text: CF

characteristic: tag

text: Cystic fibrosis

text: GM07758 male affected Cystic fibrosis sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 39 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND13550

characteristic: description

characteristic: family id

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Control

text: Population/convenience control

text: ND13551 female unaffected Control sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 28 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Mild mental retardation;normal gonad development;patient has partial OTC deficiency and heterozygosity for chronic granulomatous disease;lymphocytes and fibroblasts show random X inactivation;in lymphoid culture;del(X) is late replicating;same subject as GM07323

text: proband

text: 46;X;del(X)(pter->p21.3::p11.4->qter).arr Xp21.3p11.4(26898093-39107755)x1;46;X;del(X)(pter>p21.3::p21.1>qter)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Chromosome deletion

text: Chronic granulomatous disease (xk-related,cgd) - 306400 or 314850

text: GM07773 female unaffected Chromosome deletion sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 51 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: ND13561 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 63 YR

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Probable cyclothymic personality;sister has type I bipolar illness;proband is GM05156 Lymphoid

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: GM07781 male unaffected Major affective disorder - 125480 or 309200 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 50 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: tag

text: ND13562 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Fragile site 2q13

text: 24 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Mental retardation;fragile site 2q13 was observed in 16% of peripheral blood lymphocytes and 48% of lymphoblasts using methotrexate

characteristic: description

text: 46;XY;fra(2)(q13) 48% of cells show fra(2) with methotrexate

text: Homo sapiens

text: Caucasian

text: Male

text: Fragile site 2q13

text: GM07791 male affected Fragile site 2q13 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 29 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: daughter

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND13563 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 14 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Mental retardation;seizures;& dysmorphic features;parents both have normal karyotypes;normal X is late replicating

text: 46;X;t(X;20)(20pter->20p11.1::Xp11.1->Xqter;Xpter->Xp11.1::20p11.1->20qter).arr(1-22;X)x2;46;X;t(X;20)(Xpter>Xp10::20q10>20qter;20pter>20p10::Xq10>Xqter)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Translocated chromosome

text: GM07792 female unaffected Translocated chromosome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 28 YR

text: B-Lymphocyte

text: NINDS Repository

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: ND13564 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 63 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;wife has unipolar illness;one daughter has type II bipolar illness and another minor depression;see GM07924 Fibroblast

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Apparently healthy non-fetal tissue

text: Major affective disorder - 125480 or 309200

text: GM07800 male unaffected Apparently healthy non-fetal tissue sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 59 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Population/convenience control

text: ND13565 female unaffected Population/convenience control sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Meckel syndrome

text: 24 FW

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Abortus skin biopsy;encephalocele;polydactyly;polycystic kidneys;contractures;46;XX in peripheral blood lymphocytes

characteristic: description

text: Homo sapiens

text: Black

text: Female

text: MKS

characteristic: tag

text: Meckel syndrome

text: GM07817 female affected Meckel syndrome sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 45 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND13549

characteristic: family id

text: unaffected spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Population/convenience control

text: ND13569 male unaffected Population/convenience control sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Lactic acidosis

text: 2 WK

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Severe metabolic acidosis;elevated serum lactate levels;biventricular cardiac hypertrophy;enlarged liver;expired at age 2 weeks

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Lactic acidosis

text: Congenital infantile

text: GM07819 female affected Lactic acidosis sample


text: Coriell

text: live

text: Generic

text: 53 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: spouse is ND13585

text: control family

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: ND13570 male unaffected Population/convenience control sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: Cystic fibrosis

text: 21 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Two affected sibs;positive sweat test at age 2;mildly progressive bilateral disease

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: CF

text: Cystic fibrosis

text: GM07821 male affected Cystic fibrosis sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 42 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: control family

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Population/convenience control

text: ND13585 female unaffected Population/convenience control sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 43 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;3 affected children;heterozygous for F508 deletion mutation PHE508DEL

characteristic: description

text: father

text: CFTR

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: CF

text: Cystic fibrosis

text: Cystic fibrosis transmembrane conductance regulator

text: CFTR

text: GM07822 male unaffected CF sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 53 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND13588

characteristic: family id

text: proband

text: (GGGGCC)n EXPANSION

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

characteristic: tag

text: Amyotrophic lateral sclerosis 1

text: ND13587 male affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 40 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: mother

text: CFTR

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: CF

text: Cystic fibrosis

text: CFTR

text: GM07823 female unaffected CF sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 54 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected spouse of ND13587

text: unaffected spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND13588 female unaffected Population/convenience control sample

characteristic: title


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: CF

text: 20 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Two sibs are also aff;diag at about age 1;elevated sweat chloride;severe pulmonary & moderate gastrointestinal symptoms at the time of diag;meconium ileus at birth;receives enzyme supplements;homozygous for F508 deletion mutation PHE508DEL

characteristic: description

text: proband

text: CFTR

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: CF

text: Cystic fibrosis

text: CFTR

text: GM07824 female affected CF sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 57 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND13596

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND13595 male affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Cystic fibrosis

text: 21 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Two sibs are also affected;diagnosed shortly after birth;elevated sweat chloride;moderate pulmonary and severe gastrointestinal symptoms at the time of diagnosis;no symptoms present at birth;receives enzyme supplements

text: sister

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: CF

characteristic: tag

text: Cystic fibrosis

text: GM07825 female affected Cystic fibrosis sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 54 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND13595

text: unaffected spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND13596 female unaffected Population/convenience control sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: CF

text: 17 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Two sibs are also affected;diagnosed shortly after birth;elevated sweat chloride;no pulmonary & moderate gastrointestinal symptoms at the time of diagnosis;no symptoms present at birth;receives enzyme supplements;homozygous for F508 deletion mutation PHE508DEL

text: brother

text: CFTR

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: CF

text: Cystic fibrosis

text: CFTR

text: GM07826 male affected CF sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 46 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected spouse is ND13605

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Als panel

text: Greater than 7 years survival

text: Amyotrophic lateral sclerosis 1

text: ND13606 female affected ALS1 sample

characteristic: title


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 14 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Three affected sibs;possible heterozygote;clinically unaffected

characteristic: description

text: sister

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: CF

text: Cystic fibrosis

text: GM07827 female unaffected Cystic fibrosis sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 66 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Population/convenience control

characteristic: tag

text: ND13607 female unaffected Neurologically normal caucasian control panel sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 43 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: father

text: CFTR

characteristic: gene

text: Homo sapiens

text: Caucasian

text: Male

text: CF

text: Cystic fibrosis

text: CFTR

text: GM07828 male unaffected CF sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 66 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: ND13608 male affected Amyotrophic lateral sclerosis 1 sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 40 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;3 affected children;positive for 556delA mutation

text: mother

text: CFTR

text: 556A DEL

characteristic: mutation

text: 1-BP DEL

text: FS

text: Homo sapiens

text: Caucasian

text: Female

text: CF

text: Cystic fibrosis

text: CFTR

text: GM07829 female unaffected CF sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Amyotrophic lateral sclerosis 1

text: 40 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Ndpt097 mnd custom plate

text: Amyotrophic lateral sclerosis 1

text: ND13610 female affected Amyotrophic lateral sclerosis 1 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: CF

text: 19 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Two sibs are also aff;diag at about age 6;moderate pulmonary & no gastrointestinal symp at the time of diag;no symps present at birth;on enzyme supplements;recombinant DNA haplotype between CF & MET;F508 deletion PHE508DEL /556delA mutations

characteristic: description

text: proband

text: CFTR

text: 556A DEL

text: 1-BP DEL

text: FS

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: CF

characteristic: tag

text: Cystic fibrosis

text: CFTR

text: GM07830 female affected CF sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 66 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND13611 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Cystic fibrosis

text: 18 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Two sibs are also affected;diagnosed at about age 3;elevated sweat chloride;moderate pulmonary & mild gastrointestinal symptoms at the time of diagnosis;no symptoms present at birth;receives enzyme supplements

text: brother

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: CF

text: Cystic fibrosis

text: GM07831 male affected Cystic fibrosis sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Amyotrophic lateral sclerosis 1

text: 46 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND13613

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND13612 male affected Amyotrophic lateral sclerosis 1 sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Cystic fibrosis

text: 15 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Two sibs are also affected;diagnosed at about age 1;no pulmonary or gastrointestinal symptoms at the time of diagnosis;no symptoms present at birth;receives enzyme supplements

characteristic: family id

text: brother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: CF

text: Cystic fibrosis

text: GM07832 male affected Cystic fibrosis sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 42 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND13612

characteristic: description

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: ND13613 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 15 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: At birth: poor feeding and hypotonia;at age 15: mental retardation and excessive eating with weight gain

text: 47;XX;+mar.ish der(9)(pter>q12::p11> pter)(305J7-T7++;D9Z?+;wcp9+)

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Derivative chromosome

characteristic: tag

text: GM07841 female unaffected Derivative chromosome sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 58 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Control

text: Population/convenience control

text: ND13617 female unaffected Control sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 5 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Reyes syndrome-like episodes with hypoglycemia;low plasma & tissue carnitine levels;dicarboxylicaciduria;failure of ketosis;mild hyperammonemia;13% of norm 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

characteristic: sex

text: ACADM

text: Acyl-coa dehydrogenase, medium-chain

text: GM07842 female affected ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Ischemic stroke

text: 52 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Ndpt113 - ischemic stroke, caucasian panel

text: Ischemic stroke

text: ND13618 male affected Ischemic stroke sample

characteristic: title


characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 10 MO

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Episodes of vomiting;diarrhea;lethargy;hypoglycemia;and dicarboxylicaciduria;low plasma carnitine levels;10% of normal long-chain Acyl CoA dehydrogenase activity in leukocytes

characteristic: description

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: GM07843 female affected ACYL-CoA DEHYDROGENASE, LONG-CHAIN, DEFICIENCY OF sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 70 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected spouse of ND13624

text: spouse

text: Homo sapiens

characteristic: organism

text: Other

text: Female

text: Control

characteristic: tag

text: Population/convenience control

text: Ninds repository hispanic control plate- coaims tested

text: ND13623 female unaffected Control sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 9 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Recurrent episodes of hypoglycemia;nonketotic coma with dicarboxylicaciduria;low plasma carnitine levels;12% of normal medium-chain Acyl CoA dehydrogenase activity in fibroblasts;homozygous for 985A>G {Lys304Glu (K304E)} mutation of ACADM (MCAD)

text: ACADM

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: ACADM

text: Acyl-coa dehydrogenase, medium-chain

text: GM07844 male affected ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Amyotrophic lateral sclerosis 1

text: 79 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Other

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND13624 male affected Amyotrophic lateral sclerosis 1 sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 28 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Three affected cousins;daughter of GM07852;clinically unaffected

characteristic: description

text: maternal cousin

text: Homo sapiens

text: Caucasian

text: Female

text: CF

text: Cystic fibrosis

text: GM07850 female unaffected Cystic fibrosis sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 44 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected spouse is ND13630

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Als panel upper-limb onset definite and probable als

text: Amyotrophic lateral sclerosis 1

text: ND13628 female affected ALS1 sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 63 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Mother of GM07853 and GM07850;monozygotic twin sister of GM07734

text: maternal aunt

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: CF

characteristic: tag

text: Cystic fibrosis

text: Monozygotic twin pairs

text: GM07852 female unaffected Cystic fibrosis sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 48 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND13628

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Population/convenience control

text: ND13630 male unaffected Population/convenience control sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 38 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Three affected cousins;son of GM07852;clinically unaffected

text: maternal cousin

text: Homo sapiens

text: Caucasian

text: Male

text: CF

text: Cystic fibrosis

text: GM07853 male unaffected Cystic fibrosis sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 48 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: ND13645 male affected Parkinson disease sample

characteristic: title


characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 54 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Normal sweat test;3 affected children;Hutterite;slow growing culture;donor subject carries a T-to-A transition at nucleotide 3434 (3434T>A) which converts the met-1101 codon (ATG) to a lys (AAG);resulting in a missense mutation in exon 17b in the CFTR gene MET1101LYS (M1101K)

text: HUTTERITE

characteristic: ethnicity

text: father

text: CFTR

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: CF

text: Cystic fibrosis

text: Cystic fibrosis transmembrane conductance regulator

text: CFTR

text: GM07854 male unaffected CF sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Parkinson disease

text: 50 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Spouse is ND13645;also has Parkinsons

characteristic: description

text: spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: PD

text: Parkinson disease

text: ND13646 female affected Parkinson disease sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 53 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Normal sweat test;3 affected children;Hutterite

text: HUTTERITE

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: sex

text: CF

characteristic: tag

text: Cystic fibrosis

text: GM07855 female unaffected Cystic fibrosis sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Parkinson disease

text: 74 YR

text: B-Lymphocyte

text: NINDS Repository

text: ASHKENAZI JEWISH

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: ND13655 male affected Parkinson disease sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 30 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Three affected sibs;possible heterozygote;clinically unaffected;consanguineous parents;normal sweat test;Hutterite

text: HUTTERITE

characteristic: ethnicity

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: CF

text: Cystic fibrosis

text: GM07856 male unaffected Cystic fibrosis sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 60 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: ASHKENAZI JEWISH

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: ND13656 male affected Parkinson disease sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: CF

text: 14 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Two sibs also affected;consanguineous parents;mild disease;positive sweat test;Hutterite;donor subject is homozygous for a T-to-A transition at nucleotide 3434 (3434T>A) which converts the met-1101 codon (ATG) to a lys (AAG);resulting in a missense mutation in exon17b in the CFTR gene MET1101LYS (M1101K)

characteristic: description

text: HUTTERITE

text: proband

text: CFTR

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: CF

text: Cystic fibrosis

text: CFTR

text: GM07857 female affected CF sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 62 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: ASHKENAZI JEWISH

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: sex

text: Control

characteristic: tag

text: Population/convenience control

text: ND13657 female unaffected Control sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 13 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: HUTTERITE

characteristic: family id

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: CF

text: Cystic fibrosis

text: GM07858 male unaffected Cystic fibrosis sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 57 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: sister

text: Homo sapiens

text: More than one race

text: Female

text: Subarachnoid hemorrhage

text: ND13658 female affected Subarachnoid hemorrhage sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: Cystic fibrosis

text: 11 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Two sibs also affected;consanguineous parents;pulmonary & gastrointestinal disease;positive sweat test;Hutterite

characteristic: description

text: HUTTERITE

characteristic: ethnicity

text: sister

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: CF

text: Cystic fibrosis

text: GM07859 female affected Cystic fibrosis sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 62 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected spouse of ND13667

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Population/convenience control

text: ND13666 female unaffected Population/convenience control sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Cystic fibrosis

text: 10 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Two sibs also affected;consanguineous parents;pulmonary & gastrointestinal disease;positive sweat test;Hutterite;presumed homozygous for missense mutation M1101K in CFTR based upon DNA studies for affected sib

text: HUTTERITE

text: brother

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: CF

characteristic: tag

text: Cystic fibrosis

text: GM07860 male affected Cystic fibrosis sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Amyotrophic lateral sclerosis 1

text: 62 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND13666

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Ndpt116 - als panel: caucasians from north america upper-limb onset

text: Amyotrophic lateral sclerosis 1

text: ND13667 male affected Amyotrophic lateral sclerosis 1 sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Monozygotic twin pairs

text: 25 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Mental retardation;typical facies;large testes;hyperactive;self-mutilates;affected monozygotic twin brother is GM07862;CGG repeats in the FMR1 gene range from 351-400 as detected by PCR (normal size range is 5-45 repeats);full mutation (fully methylated) characteristic of Fragile X syndrome.

text: proband

characteristic: gene

text: (CGG)n EXPANSION

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Fmr1 gene

text: Fragile x mental retardation syndrome

text: Monozygotic twin pairs

text: GM07861 male affected Monozygotic twin pairs sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 50 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND13677

characteristic: description

text: spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Population/convenience control

text: ND13676 female unaffected Population/convenience control sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Monozygotic twin pairs

text: 25 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Mental retardation;typical facies;large testes;hyperactive;affected monozygotic twin brother is GM07861;CGG repeats in the FMR1 gene range from 501-550 as detected by PCR (normal size range is 5-45 repeats);full mutation (fully methylated) characteristic of Fragile X syndrome.

text: twin

text: (CGG)n EXPANSION

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Fmr1 gene

text: Fragile x mental retardation syndrome

text: Monozygotic twin pairs

text: GM07862 male affected Monozygotic twin pairs sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 66 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND13676

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

characteristic: tag

text: ND13677 male affected KENNEDY'S DISEASE (SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1 sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 5 DA

characteristic: age

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Severe cardiovascular anomalies;cleft palate;clinodactyly (Vth finger);abnormally set toes;seizures in newborn period

text: 46;XY;del(4)(pter->q32:).arr 4q32.2q35.2(161591086-191254119)x1;46;XY;del(4)(pter>q32:)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Chromosome deletion

text: GM07863 male unaffected Chromosome deletion sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 59 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

characteristic: gene

text: (GGGGCC)n EXPANSION

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Ndpt097 mnd custom plate

text: Amyotrophic lateral sclerosis 1

text: ND13682 male affected Amyotrophic lateral sclerosis 1 sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 2 WK

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Intrauterine growth retardation;congenital heart disease;multiple dysmorphic features;both parents have normal karyotypes

characteristic: description

text: 46;XY;del(3)(qter->p25:).arr 3p26.3p25.2(35332-12262863)x1;46;XY;del(3)(qter>p25:)

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Chromosome deletion

text: GM07873 male unaffected Chromosome deletion sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 59 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND13682

characteristic: family id

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Population/convenience control

characteristic: tag

text: ND13701 female unaffected Neurologically normal caucasian control panel sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 3 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Developmental delay;growth retardation;mild facial dysmorphism;normal eye exam;50% of normal Esterase D activity in blood;46;XX;del(13)(pter>q12.3::q21.2> qter)

text: 46;XX;del(13)(pter->q13::q21.3->qter)..arr 13q13.1q21.31(32302481-63967037)x1;46;XX;del(13)(pter>q12.3::q21.2>qter)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Esterase d

text: Fgh included

text: Chromosome deletion

text: Esd s-formylglutathione hydrolase included

text: GM07890 female unaffected Fgh included sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: Als panel bulbar onset all definite als

text: 78 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND13709

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Als panel bulbar onset all definite als

text: Amyotrophic lateral sclerosis 1

text: ND13708 female affected Als panel bulbar onset all definite als sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 5 DA

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Severe cranial & cerebral malformations;abnormal facies;congenital heart disease;abnormal thyroid gland;abnormal lobation of lungs;genital & urinary abnormalities;expired at age 5 days

characteristic: description

text: 46;XY;der(18)(18pter->18q21.1::12q24.3->12qter)pat.arr 12q24.33(125006920-132287718)x3;18q21.1q23(45278510-76116029)x1;46;XY;der(18)(18pter> 18q21.1::12q24.31>12qter)pat

text: Homo sapiens

text: Caucasian

text: Male

text: Translocated chromosome

text: GM07891 male unaffected Translocated chromosome sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 77 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND13708

text: unaffected spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Population/convenience control

text: ND13709 male unaffected Neurologically normal caucasian control panel sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 32 FW

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Ashkenazi;stillborn;marked limb shortening;macrocephaly;cleft palate;depressed nasal bridge;micrognathia;polyhydramnios by ultrasound;radiograph shows shortened long bones;decreased mineralization;normal calvarium;Type 2

text: ASHKENAZI

characteristic: ethnicity

text: 46;XX;15p+ 15p+ is C band positive

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Or grebe type - 200700

characteristic: tag

text: GM07892 female affected Achondrogenesis type 1 - 200600 type 2 - 200610 sample


text: Coriell

text: live

text: Generic

text: 69 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: ASHKENAZI JEWISH

characteristic: family id

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Control

text: Population/convenience control

text: ND13723 female unaffected Control sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: 23 FW

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Skin fibroblast culture;wide set eyes;low set posteriorly rotated ears;overriding lip;spade-like hands;short neck with webbing;fused palpebral fissures;same patient as GM07901

text: proband

text: 46;XY;der(6)(6qter>6p25::4q31.3>4qter)mat

characteristic: karyotype

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Translocated chromosome

text: GM07893 male unaffected Translocated chromosome sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 44 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: ND13742 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Chromosome deletion

text: 7 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Very mild dysmorphic features;moderate developmental delay;no retinoblastoma

characteristic: description

text: 46;XX;del(13)(pter->q21::q31->qter).arr 8q24.11(118948102-119145574)x3;13q21.2q31.2(60081045-88610902)x1;46;XX;del(13)(pter>q14.3::q22>qter)

text: Homo sapiens

characteristic: organism

text: Asiatic Indian

text: Female

text: Chromosome deletion

text: GM07895 female affected Chromosome deletion sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 43 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: daughter

text: Homo sapiens

text: Asian

text: Female

characteristic: sex

text: Intracranial aneurysm - unruptured

characteristic: tag

text: ND13744 female affected Intracranial aneurysm - unruptured sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 23 FW

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Lung fibroblast culture;wide set eyes;low set posteriorly rotated ears;overriding lip;spade-like hands;short neck with webbing;fused palpebral fissures;same patient as GM07893

characteristic: family id

text: proband

text: 46;XY;der(6)(4qter->4q32::6p25->6qter)mat.arr 4q32.1q35.2(159691414-191254119)x3;6p25.3(94648-1104429)x1;8p23.1(7237777-7876247)x3;46;XY;der(6)(6qter>6p25::4q31.3>4qter)mat

text: Homo sapiens

text: Caucasian

text: Male

text: Translocated chromosome

text: GM07901 male unaffected Translocated chromosome sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Intracranial aneurysm - unruptured

text: 55 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Intracranial aneurysm - unruptured

text: ND13745 female affected Intracranial aneurysm - unruptured sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Cystic fibrosis

text: 9 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Elevated sweat chloride;2 affected sibs;onset at age 1 month;medication includes Pancrease;vitamins;Bactrim;and Quibron;monozygotic twin of GM07904

text: twin sister

text: Homo sapiens

text: Caucasian

text: Female

text: CF

text: Cystic fibrosis

text: Monozygotic twin pairs

text: GM07902 female affected Cystic fibrosis sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 47 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND13757

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Als panel upper-limb onset probable and possible als

text: Amyotrophic lateral sclerosis 1

text: ND13753 male affected Ndpt116 - als panel: caucasians from north america upper-limb onset sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: Cystic fibrosis

text: 10 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Elevated sweat chloride;2 affected sibs;onset at age 6 mo;medication includes Pancrease;vitamins;& Bactrim

characteristic: description

text: brother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: CF

text: Cystic fibrosis

text: GM07903 male affected Cystic fibrosis sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 58 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND13758

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Amyotrophic lateral sclerosis 1

text: ND13754 female affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: CF

text: 9 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Elevated sweat chloride;2 affected siblings;onset at age 1 month;medication includes Pancrease;aerosol Tobramycin;vitamins;and Bactrim;monozygotic twin of GM07902;homozygous for the F508 deletion mutation PHE508DEL

text: proband

text: CFTR

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: CF

characteristic: tag

text: Cystic fibrosis

text: Cystic fibrosis transmembrane conductance regulator

text: CFTR

text: Monozygotic twin pairs

text: GM07904 female affected CF sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 46 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected spouse of ND13753

characteristic: family id

text: spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Population/convenience control

text: ND13757 female unaffected Population/convenience control sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 34 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Heterozygous for B-thalassemia minor and hemoglobin J (Altgeld Gardens);patient is only slightly anemic

text: AFRICAN-AMERICAN

characteristic: ethnicity

text: Homo sapiens

text: Black

text: Female

text: Hemoglobin--beta locus

text: HBB

text: GM07905 female unaffected Hemoglobin--beta locus sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 51 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND13754

characteristic: description

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

characteristic: sex

text: Population/convenience control

text: ND13758 male unaffected Population/convenience control sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Daughter with same balanced translocation has had 3 spontaneous abortions

text: ITALIAN

text: proband

text: 46;XY;t(4;14)(4pter>4q25::14q32>14qter;14pter>14q32::4q25>4qter)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Translocated chromosome

characteristic: tag

text: GM07908 male unaffected Translocated chromosome sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 55 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected spouse of ND13761

characteristic: family id

text: spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Population/convenience control

text: ND13764 male unaffected Population/convenience control sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

text: 38 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal

text: 46;XY;t(14;17)(14pter>14q24.3::17p13.1> 17pter;17qter>17p13.1::14q24.3>14qter)

text: Homo sapiens

text: Caucasian

text: Male

text: Translocated chromosome

text: Apparently healthy non-fetal tissue

text: GM07912 male unaffected Apparently healthy non-fetal tissue sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Amyotrophic lateral sclerosis 1

text: 41 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected spouse is ND13769

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND13768 male affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

text: live

text: Generic

text: 63 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;wife has unipolar illness;one daughter has type II bipolar illness;see GM07800 Lymphoid

characteristic: description

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Apparently healthy non-fetal tissue

text: Major affective disorder - 125480 or 309200

text: GM07924 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 86 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND13768

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Population/convenience control

text: ND13769 female unaffected Neurologically normal caucasian control panel sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 38 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;see GM07978 Fibroblast;son with unbalanced translocation is GM07901 & GM07893 Fibroblast

text: mother

text: 46;XX;t(4;6)(4pter>4q31.3::6p25>6pter;6qter>6p25::4q31.3>4qter)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Translocated chromosome

characteristic: tag

text: GM07938 female unaffected Translocated chromosome sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 54 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Parkinson disease

text: ND13792 female affected Parkinson disease sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

text: Chromosome deletion

text: 3 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;truncus arteriosus;ventricular septal defect;hypocalcemia;hypoparathyroidism;absence of thymic shadow;partial defect of T-lymphocyte function;two supernumerary digits of the upper extremity;micropenis;hypertelorism;low-set ears;micrognathia;cleft palate;older brother died at 3 months of age and was affected with truncus arteriosus;hypoparathyroidism;lack of thymic shadow;and dysmorphism;father has hypertelorism;micrognathia;low-set ears;relative deficiency of T-lymphocytes;and relative hypoparathyroidism.

text: Homo sapiens

text: Caucasian

text: Male

text: Velocardiofacial syndrome

text: Chromosome deletion

text: GM07939 male affected Chromosome deletion sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Amyotrophic lateral sclerosis 1

text: 59 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected spouse is ND13804

text: proband

characteristic: gene

text: (GGGGCC)n EXPANSION

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Amyotrophic lateral sclerosis 1

text: ND13803 female affected Amyotrophic lateral sclerosis 1 sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 65 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: 5' tall;small hands & feet;diabetes;cataracts;mildly retarded;not dysmorphic;no retinoblastoma

characteristic: description

text: 46;XX;del(13)(pter->q21.1::q31->qter).arr 13q21.1q31.2(57081885-88594137)x1;46;XX;del(13)(pter>q14.3::q31>qter)

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: sex

text: Chromosome deletion

text: GM07941 female unaffected Chromosome deletion sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 61 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected spouse of ND13803

characteristic: family id

text: unaffected spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Population/convenience control

characteristic: tag

text: ND13804 male unaffected Population/convenience control sample


characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

text: 3 MO

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;karyotype is 46;XY;del(20)(pter>q13.1:);deficient ADA activity in RBC;fibroblasts;and lymphoblast culture;failure to thrive;grand mal seizures;mental retardation;upward slanting palpebral fissures;hypoplastic nasal bridge;bulbous nose;long philtrum;microretrognathia;aplasia of middle phalanx of fingers and toes.

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Copy number variation (cnv) reference panel

text: Chromosome deletion

text: GM07945 male unaffected Adenosine deaminase deficiency with no immunodeficiency sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: Amyotrophic lateral sclerosis 1

text: 77 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected spouse is ND13810

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND13808 male affected Amyotrophic lateral sclerosis 1 sample

characteristic: title


text: Coriell

text: live

text: Generic

text: DMD

text: 14 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected with DMD;as well as chronic granulomatous disease;retinitis pigmentosa;and mental retardation;hepatosplenomegaly and lymphadenopathy noted at six months;recurrent pyoderma;respiratory infections;febrile episodes;recurrent suppurative lymphadenitis;osteomyelitis;and pneumonia;McLeod red cell phenotype;diffuse atrophy of retinal pigment epithelium and intraretinal pigment clumpng at age 2;retinal vessel attenuation;visual acuity 20/100 OD and 20/40+ OS;atrophy of macula with cystoid macular edema and drusen of the disc;severely constricted visual fields;ERG showed no detectable rod or cone responses;idiopathic intestinal pseudoobstruction;stood with support at age 2;walked short distances at 3 1/2 years;wide-based gait;weakness of proximal and distal muscles of upper and lower extremities;wheelchair bound at age 12;pseudohypertrophy of calf muscles;EMG consistent with a myopathy;muscle biopsy showed diffuse loss of muscle fibers and replacement by fibrous and adipose tissue and marked variation in fiber size on cross sections;elevated CPK of 1;039;46;Y;del(X)(Xpter>Xp21.3::Xp21.1>Xqter) by molecular analysis;dystrophin gene deletion from outside 5' end through at least exon 19;exon 44 is not deleted.

characteristic: description

text: DMD

characteristic: gene

text: 46;XY by Karyotype Analysis 46;Y;del(X)(Xpter>Xp21.3::Xp21.1>Xqter) by Molecular Probe Analysis;46;XY by Karyotype Analysis 46;Y;del(X)(Xpter>Xp21.3::Xp21.1>Xqter) by Probe Analysis;46;Y;del(X)(pter>p21.3::p21.1>qter);46;Y;del(X)(Xpter->Xp21.1::Xp11.4->Xqter).arr Xp21.1p11.4(32320869-37616741)x0;15q11.2(20073109-20852202)x1;46;Y;del(X)(Xpter>Xp21.3::Xp21.1>Xqter)

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Muscular dystrophy: duchenne type

text: Chromosome deletion

text: DMD

text: Chronic granulomatous disease (xk-related,cgd) - 306400 or 314850

text: Dystrophin

text: GM07947 male affected DMD sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 60 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected spouse is ND13811

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

characteristic: tag

text: Als panel upper-limb onset definite and probable als

text: Amyotrophic lateral sclerosis 1

text: ND13809 male affected ALS1 sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

text: Translocated chromosome

text: 63 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Thrombocytopenia that progressed to aplastic anemia;a brother with the same translocation has persistent thrombocytopenia;6 other family members with the same translocation have no hematologic disorder

text: 45;XX;dic(13;14)(13qter>13p11.2:: 14p11.2>14qter)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Translocated chromosome

text: GM07964 female affected Translocated chromosome sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 75 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected spouse of ND13808

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Control

text: Population/convenience control

text: Neurologically normal caucasian control panel

text: ND13810 female unaffected Control sample

characteristic: title


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 57 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Mental retardation;one kidney;hearing loss;mild scoliosis;not dysmorphic;no retinoblastoma

characteristic: description

text: 46;XX;del(13)(pter->q14.3::q22->qter).arr 1q21.1(147303135-148039121)x3;13q14.3q22.1(50153920-73324321)x1;46;XX;del(13)(pter>q14.3::q22>qter)

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Chromosome deletion

text: GM07965 female unaffected Chromosome deletion sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 57 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected spouse of ND13809

characteristic: family id

text: spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Population/convenience control

text: ND13811 female unaffected Population/convenience control sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 23 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;parent of a child with Down's phenotype;proband not in Repository

text: parent

text: 46;XX;t(9;21)(9qter>9p24::21q22.1> 21qter;21pter>21q22.1::9p24>9pter).ish t(9;21)(305J7-T7-;305J7-T7+)

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Translocated chromosome

characteristic: tag

text: GM07966 female unaffected Translocated chromosome sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

text: Als panel bulbar onset all definite als

text: 55 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Als panel bulbar onset all definite als

text: Amyotrophic lateral sclerosis 1

text: ND13829 female affected Als panel bulbar onset all definite als sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Gaucher disease type i

text: 19 FW

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Fetal skin fibroblast culture;positive family history;deficient beta-glucosidase activity in cultured amniotic fluid cells;Jewish;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;Proline for Leucine Leu444Pro (L444P);codons are numbered from the first codon of the mature protein;the cDNA is numbered from the first initiating AUG

text: JEWISH

characteristic: ethnicity

text: GBA

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Gaucher disease type i

text: GBA

text: Glucosidase acid beta

text: GM07968 male affected Gaucher disease type i sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 56 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND13829

characteristic: description

text: unaffected spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Population/convenience control

text: ND13830 male unaffected Population/convenience control sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 1 MO

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Round face;fishmouth;micrognathia

characteristic: family id

text: proband

text: 47;XX;+der(9)(9pter>9q13::Yq12>Yqter)pat

characteristic: karyotype

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Translocated chromosome

text: GM07970 female unaffected Translocated chromosome sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Amyotrophic lateral sclerosis 1

text: 70 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND13836

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

characteristic: tag

text: Amyotrophic lateral sclerosis 1

text: ND13835 female affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 32 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically normal

text: father

text: 46;X;t(Y;9)(Ypter>Yq12::9q13>9qter;9pter>9q13::Yq12>Yqter)

text: Homo sapiens

text: Caucasian

text: Male

text: Translocated chromosome

text: GM07971 male unaffected Translocated chromosome sample


text: Coriell

text: live

text: Generic

text: 71 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND13835

characteristic: description

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Population/convenience control

text: ND13836 male unaffected Neurologically normal caucasian control panel sample


characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 31 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: MODY;impaired glucose tolerance test at age 15;diabetic glucose tolerance test at age 17;treated with diet alone;mother of GM07975;daughter of GM07973 & GM01246A;donor subject has a C>T substitution at codon 268 in exon 7 of the HNF4A (TCF14) gene that results in a CAG>TAG nonsense mutation Gln268Ter (Q268X);donor subject also has a missense polymorphism of the HNF4A (TCF14) gene: a C>T transition at nucleotide 609 in exon 4 (609C>T) resulting in a threonine to isoleucine change at codon 130 Thr130Ile (T130I)

text: niece

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Hepatocyte nuclear factor 4-alpha

text: Maturity-onset diabetes of the young type i

text: GM07974 female affected MODY1 sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: Ischemic stroke

text: 47 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Ischemic stroke

text: ND13850 male affected Ischemic stroke sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 38 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;see GM07938 Lymphoid

text: mother

text: 46;XX;t(4;6)(4pter>4q31.3::6p25>6pter;6qter>6p25::4q31.3>4qter)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Translocated chromosome

characteristic: tag

text: GM07978 female unaffected Translocated chromosome sample


text: Coriell

text: live

text: Generic

text: 51 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Control

text: Population/convenience control

text: ND13851 female unaffected Control sample


characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 13 DA

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Parents both have normal karyotypes;in peripheral blood leukocytes;12% of cells examined showed the i(12p);multiple congenital anomalies including a small atrial septal defect;PallisterKillian syndrome;100% +i(12p) at pas 12

characteristic: description

text: 46;XY/47;XY;+i(12p);47;XY;+i(12)(pter->p11.1::p11.1->pter).arr 1p36.11(25455203-25558419)x3;12p13.33p11.1(20690-34605894)x3 4;47;XY;+i(12)(pter>p10::p10>pter)

text: Homo sapiens

text: Black

text: Male

text: GM07981 male unaffected Aneuploid chromosome number - non-trisomic sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 53 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Subarachnoid hemorrhage

text: ND13878 female affected Subarachnoid hemorrhage sample

characteristic: title