text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: RTT

text: 25 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;microcephaly;scoliosis diagnosed at age 12;severe kyphoscoliosis at age 25;early milestones were slow;started losing skills at age 2;currently severely retarded;behavioral phenotype includes hand wringing that began at age 2 and became more intense;no sleep problems;no self-injurious behavior;abnormal EEG;CT scan at age 25 showed evidence of atrophy;donor subject carries a frameshift mutation;705delG;in the gene encoding methyl-CpG binding protein 2 (MECP2);see GM07983 lymphoblast.

text: AUSTRIAN

characteristic: ethnicity

characteristic: family id

text: proband

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: RTT

text: Methyl-cpg-binding protein 2

text: Rett syndrome

text: GM07982 female affected RTT 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 package

tag: attribute

text: 57 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected spouse is ND13891

characteristic: description

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: sex

text: Als panel: caucasians from north america lower-limb onset

characteristic: tag

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

text: Amyotrophic lateral sclerosis 1

text: ND13889 female affected ALS1 sample

characteristic: title


characteristic: DNA id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: RTT

text: 25 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;microcephaly;scoliosis diagnosed at age 12;severe kyphoscoliosis at age 25;early milestones were slow;started losing skills at age 2;currently severely retarded;behavioral phenotype includes hand wringing that began at age 2 and became more intense;no sleep problems;no self-injurious behavior;abnormal EEG;CT scan at age 25 showed evidence of atrophy;donor subject carries a frameshift mutation;705delG;in the gene encoding methyl-CpG binding protein 2 (MECP2);see GM07982 fibroblast.

text: AUSTRIAN

characteristic: ethnicity

characteristic: family id

text: proband

characteristic: gene

text: Homo sapiens

text: Caucasian

text: Female

text: RTT

text: Methyl-cpg-binding protein 2

text: Rett syndrome

text: GM07983 female affected RTT sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 58 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND13889

text: unaffected spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Population/convenience control

text: ND13891 male unaffected Neurologically normal caucasian control panel sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 28 FW

characteristic: age

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Stillborn;holoprosencephaly;hydrocephalus;mid-facial dysplasia;hypopituitarism;akinesia;t(18;21) is NOR negative

text: 45;XX;der(18)(18qter>18p11.2::21q11.2>21qter);-21;45;XX;der(18;21)(18qter->18q11.1::21p11.1->21qter).arr 18p11.32p11.21(1542-15391751)x1

characteristic: karyotype

text: Homo sapiens

text: Black

text: Female

text: Translocated chromosome

text: Holoprosencephaly

text: GM07985 female unaffected Holoprosencephaly sample


text: Coriell

text: live

text: Generic

text: 51 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND13916

characteristic: description

text: unaffected spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: sex

text: Population/convenience control

characteristic: tag

text: ND13912 female unaffected Population/convenience control sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 1 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Multiple congenital defects of heart;limbs;& brain

text: LATIN AMERICAN

characteristic: ethnicity

text: 46;XY;der(5)(1qter->1q31::5p15.3->5qter)mat.ish der(5)(D5S23+).arr 1q31.3q44(197147978-247190999)x3;5p15.33p15.31(68519-7682973)x1;46;XY;der(5)(5qter>5p15.3:: 1q32>1qter)mat;46;XY;der(5)(5qter>5p15.3::1q32> 1qter)mat.ish der(5)(D5S23+)

text: Homo sapiens

text: Black

text: Male

text: Translocated chromosome

text: GM07987 male unaffected Translocated chromosome sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 59 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND13912

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND13916 male affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: Triosephosphate isomerase 1

text: 4 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Hemolytic anemia and severe neurologic problems

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Triosephosphate isomerase 1

text: GM07991 male affected Triosephosphate isomerase 1 sample


text: Coriell

text: live

text: Generic

text: 63 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected spouse of ND13937

text: unaffected spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: ND13940 male unaffected Population/convenience control sample


text: Coriell

text: live

text: Generic

text: 3 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Growth;developmental;& mental retardation;broad;flat nasal bridge;epicanthal folds;downslanting palpebral fissures;deep set ears;left- misshapen;muscle weakness;hyperactive behavior

characteristic: description

text: 47;XX;+idic(15)(pter>q12::q12>pter).ish idic(15)(D15Z++;D15Z1++;SNRPN+;PML-)

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: sex

text: Dicentric chromosome

text: GM07992 female unaffected Dicentric chromosome sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Amyotrophic lateral sclerosis 1

text: 57 YR

text: B-Lymphocyte

text: NINDS Repository

text: IRISH

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: Amyotrophic lateral sclerosis 1

text: ND13945 female affected Amyotrophic lateral sclerosis 1 sample

characteristic: title


characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 18 FW

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Parents both have normal karyotypes and normal galactose-1-phosphate uridyl transferase activity;cultured amniotic fluid cells from proband gave GAL-1-P uridyl transferase activities consistent with 4 gene copies

text: 47;XY;+idic(9)(pter->q12::q12->pter).arr 3q12.2(101822745-101925168)x4;9p24.3q12(36586-69267830)x4;47;XY;+idic(9)(pter>q12::q12>pter)

text: Homo sapiens

text: Caucasian

text: Male

text: Aneuploid chromosome number - trisomy

text: Aneuploid chromosome number - trisomy 9

text: GM07995 male unaffected Aneuploid chromosome number - trisomy sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: Amyotrophic lateral sclerosis 1

text: 61 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND13958

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND13957 male affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

text: live

text: Generic

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Multiple congenital anomalies including microcephaly;narrow palpebral fissures;ear anomalies;micrognathia;short neck with redundant skin;clinodactyly;cardiac defect;sacral and anal anomalies;renal anomalies;and decreased tone

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Translocated chromosome

text: GM08009 female unaffected Copy number variation (cnv) refernece panel 02 sample


text: Coriell

text: live

text: Generic

text: 50 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND13957

characteristic: description

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: sex

text: Population/convenience control

text: ND13958 female unaffected Population/convenience control sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 3 WK

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;absent right thumb;bilateral radial hypoplasia;ectopic kidney;patent ductus arteriosus;bilateral optic nerve hypoplasia;microcephaly;duodenal web;increased chromosome breakage both stressed (MMC or AMD) and spontaneous.

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: GM08010 male affected Fanconi anemia complementation group undetermined sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 72 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND13965

text: Puerto Rican

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Other

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND13964 male affected Amyotrophic lateral sclerosis 1 sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: 1 DA

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;de novo translocation

text: 46;XY;t(2;10)(2pter>2q31::10q21.2> 10qter;10pter>10q21.2::2q31>2qter)

text: Homo sapiens

text: Asian

text: Male

text: Translocated chromosome

text: GM08012 male unaffected Translocated chromosome sample


text: Coriell

text: live

text: Generic

text: 79 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected spouse of ND13964

text: Puerto Rican

characteristic: family id

text: spouse

text: Homo sapiens

text: Other

text: Female

text: Control

text: Population/convenience control

text: Ninds repository hispanic control plate- coaims tested

text: ND13965 female unaffected Control sample


text: Coriell

text: live

text: Generic

text: Lesch-nyhan syndrome

text: 5 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Choreoathetosis;dystonia;mild selfmutilation;severe speech;motor;& moderate developmental delays;2% of normal WBC HPRT activity;negative family history;mother is a carrier by hair root assay

characteristic: description

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: LNS

text: Lesch-nyhan syndrome

text: GM08019 male affected Lesch-nyhan syndrome sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Renal hamartomas

text: 30 FW

text: Amniotic fluid-derived cell line

text: NIGMS Human Genetic Cell Repository

text: Polyhydramnios;fetal ascites;macrosomia;hepatomegaly;nephromegaly;deep-set eyes;broad depressed nasal bridge;low-set ears;evert upper lip;hypotonia;developmental delay;polyuria;cryptorchidism;hydronephrosis;nephroblastomatosis;Wilms;46;XY

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Renal hamartomas

characteristic: tag

text: Nephroblastomatosis and fetal gigantism

text: GM08024 male affected Renal hamartomas sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 55 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND13967

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND13966 male affected Amyotrophic lateral sclerosis 1 sample

characteristic: title


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: 5 DA

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Skin biopsy (thigh);Pallister mosaic aneuploidy syn;expired at age 7 weeks;dysmorphic facies: hypertelorism;flat face;prominent forehead;frontal bossing;long philtrum;high;narrow palate;mod hypotonia;broad;short hands & feet

text: proband

text: 47;XY;+del(12)(pter->p11.1:).arr 12p13.33p11.1(20690-34745753)x3;47;XY;+i(12)(pter>p10::p10>pter)

text: Homo sapiens

text: Caucasian

text: Male

text: Aneuploid chromosome number - trisomy

text: GM08035 male unaffected Aneuploid chromosome number - trisomy sample


text: Coriell

text: live

text: Generic

text: 54 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected spouse of ND13966

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Control

text: Population/convenience control

text: ND13967 female unaffected Control sample


text: Coriell

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;borderline chromosome fragility observed in peripheral blood lymphocytes;donor subject is an obligate heterozygote for a deletion of 5 nucleotides in exon 6 of the NBS1 gene;resulting in a frameshift and a premature termination at codon 218 657-661delACAAA (657del5) .

characteristic: description

characteristic: family id

text: father

characteristic: gene

text: 5-BP DEL

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Nijmegen breakage syndrome gene

text: Nijmegen breakage syndrome

text: GM08036 male unaffected Nijmegen breakage syndrome sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Amyotrophic lateral sclerosis 1

text: 78 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND13969

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Ndpt097 mnd custom plate

characteristic: tag

text: Amyotrophic lateral sclerosis 1

text: ND13968 male affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;IgA deficiency;borderline chromosome fragility observed in peripheral blood lymphocytes;donor subject is an obligate heterozygote for a deletion of 5 nucleotides in exon 6 of the NBS1 gene;resulting in a frameshift and a premature termination at codon 218 657-661delACAAA (657del5) .

text: mother

text: 5-BP DEL

text: Homo sapiens

text: Caucasian

text: Female

text: Nijmegen breakage syndrome gene

text: Nijmegen breakage syndrome

text: GM08037 female unaffected Nijmegen breakage syndrome sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 68 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffeced spouse of ND13969

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND13969 female unaffected Population/convenience control sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 19 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Typical physical dysmorphism for partial trisomy 16p;laryngomalacia;gastroesophageal reflux;recurrent infections;hyponatremia/chloremia;mother's karyotype shows an aberrant 16;possibly inv(16)(p11q24)

characteristic: description

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Recombinant chromosome

text: GM08039 male unaffected Recombinant chromosome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 68 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND13971

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND13970 male affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Zellweger syndrome

text: 4 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Hypotonia and seizures;physical dysmorphism;liver enlargement;elevated urine 4-OH phenyllactic acid;elevated C24:C22 and C26:C22 plasma fatty acid ratios;patient expired at age 5 mos

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Zellweger syndrome

characteristic: tag

text: ZS

text: GM08040 female affected Zellweger syndrome sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 69 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND13970

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND13971 female unaffected Population/convenience control sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: 46;XY;t(1;11)(1pter>1q32::11p13>11pter;11qter>11p13::1q32>1qter)

text: Homo sapiens

text: Caucasian

text: Male

text: Translocated chromosome

text: GM08070 male unaffected Translocated chromosome sample


text: Coriell

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 76 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected spouse is ND13973

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND13972 male affected Amyotrophic lateral sclerosis 1 sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: 27 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: One impaired and one diabetic glucose tolerance test at age 17;normal tests since then;daughter of GM01246A & GM07973;spouse of GM10406;mother of GM08073;GM11090;& GM11600;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)

characteristic: family id

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: GM08072 female unaffected MODY1 sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 66 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND13985

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Als panel

text: Greater than 7 years survival

text: Amyotrophic lateral sclerosis 1

text: ND13984 female affected ALS1 sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 45 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Obligate heterozygote;asymptomatic with normal reticulocyte count & mild anemia;63% of normal PFK activity & 74% of normal 2;3-DPG levels in RBCs

text: JEWISH

characteristic: ethnicity

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Glycogen storage disease vii

characteristic: tag

text: GM08079 female unaffected Glycogen storage disease vii sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 67 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected spouse of ND13984

characteristic: description

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: ND13985 male unaffected Population/convenience control sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 42 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Non-diabetic mother of GM08084 and GM08085A;sister of GM08283 and GM08365;affected father is brother of GM08086;impaired glucose tolerance test;daughter of GM10121B

characteristic: family id

text: paternal second cousin

text: Homo sapiens

text: Caucasian

text: Female

text: GM08083 female unaffected Maturity-onset diabetes of the young type i sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Epilepsy

text: 18 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Epilepsy

text: ND14009 female affected Epilepsy sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 12 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Non-diabetic;daughter of GM08083;normal glucose tolerance test

text: paternal third cousin

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: GM08085 female unaffected Maturity-onset diabetes of the young type i sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 40 YR

text: B-Lymphocyte

text: NINDS Repository

text: son-in-law

text: Homo sapiens

text: Caucasian

text: Male

text: Control

characteristic: tag

text: Population/convenience control

text: ND14029 male unaffected Control sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 63 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Diabetic;diagnosed at age 67;mother of GM08090;sib of GM08086;daughter of GM08362;spouse of GM10060

text: paternal cousin

text: Homo sapiens

text: Caucasian

text: Female

text: GM08091 female affected Maturity-onset diabetes of the young type i sample

characteristic: title


text: Coriell

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 48 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected spouse is ND14049

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Amyotrophic lateral sclerosis 1

text: ND14046 female affected Amyotrophic lateral sclerosis 1 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 6 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Hispanic;severe myopia;microophthalmia;mental retardation

characteristic: description

text: HISPANIC

characteristic: ethnicity

text: 46;XX;del(5)(pter>p15.3::p15.1>qter).ish del(5)(C84C11/t3+;D5S23-);46;XX;del(5)(qter>p15.1:).ish del(5) (D5S23-)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Chromosome deletion

text: GM08092 female unaffected Chromosome deletion sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 55 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND14046

characteristic: family id

text: spouse

text: Homo sapiens

characteristic: organism

text: Other

characteristic: race

text: Male

text: Control

text: Population/convenience control

text: Ninds repository hispanic control plate- coaims tested

text: ND14049 male unaffected Control sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 1 MO

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Daughter of GM07446B;Asian/Caucasian;clinically unaffected;affected brother & maternal uncle;possible heterozygote

text: niece

text: Homo sapiens

text: More than one race

text: Female

characteristic: sex

text: PMD

characteristic: tag

text: Pelizaeus-merzbacher disease

text: GM08093 female unaffected Pelizaeus-merzbacher disease sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Amyotrophic lateral sclerosis 1

text: 66 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND14071

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND14058 male affected Amyotrophic lateral sclerosis 1 sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 1 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Deficient lymphocyte HMG-CoA Lyase activity;encephalopathy;hepatic dysfunction;vomiting;lethargy;seizures;& abnorm urinary organic acids;pos family history;consang parents both have carrier levels of enzyme act in lymphocytes

characteristic: description

text: EGYPTIAN

text: Homo sapiens

text: Caucasian

text: Male

text: GM08100 male affected 3-hydroxy-3-methylglutaryl-coenzyme a lyase deficiency sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 69 YR

text: B-Lymphocyte

text: NINDS Repository

text: DENMARK;SWEDEN;FRANCE

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Primary lateral sclerosis

text: ND14061 male affected Primary lateral scleroris: caucasian, non-hispanic sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 51 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: MODY;fasting hyperglycemia;diagnosed at age 21;son of GM10036;father of GM08107B;GM11452;GM11493;and GM11494;spouse of GM11453;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)

characteristic: family id

text: brother

characteristic: gene

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Hepatocyte nuclear factor 4-alpha

text: Maturity-onset diabetes of the young type i

text: GM08106 male affected MODY1 sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: 14 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: MODY;fasting hyperglycemia;diagnosed at age 14;daughter of GM08106;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

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Hepatocyte nuclear factor 4-alpha

characteristic: tag

text: GM08107 female affected MODY1 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 68 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected spouse of ND14061

text: GERMAN;SCOTISH;IRISH

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND14062 female unaffected Population/convenience control sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Citrullinemia

text: 1 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Consanguineous parents;increased plasma citrulline;expired at age 13 mos with neonatal hyperammonemia secondary to Argininosuccinate synthetase deficiency

characteristic: description

text: Homo sapiens

text: Caucasian

text: Male

text: Citrullinemia

text: Classic

text: GM08108 male affected Citrullinemia sample


text: Coriell

text: live

text: Generic

text: 59 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND14058

characteristic: family id

text: unaffected spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Population/convenience control

text: ND14071 female unaffected Neurologically normal caucasian control panel sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 30 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;normal female external genitalia;normal secondary sexual characteristics;and regular menses;del (X) is the inactive X in 100% of lymphocytes with BrdU

text: 46;X;del(X)(pter->q27:).arr Xq27.1q28(139332387-154849094)x1;46;X;del(X)(pter>q26:);arr Xq27.1q28(139332387-154849094)x1

characteristic: karyotype

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Chromosome deletion

text: GM08121 female unaffected Chromosome deletion sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: Amyotrophic lateral sclerosis 1

text: 37 YR

text: B-Lymphocyte

text: NINDS Repository

text: niece

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Amyotrophic lateral sclerosis 1

text: ND14076 female affected Amyotrophic lateral sclerosis 1 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 27 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Multiple miscarriages

text: 46;XX;t(2;11)(2pter>2q14.2::11q25> 11qter;11pter>11q25::2q14.2>2qter)

text: Homo sapiens

text: Caucasian

text: Female

text: Translocated chromosome

characteristic: tag

text: GM08122 female unaffected Translocated chromosome sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 5 DA

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Expired at age 5 days;respiratory distress;persistent hypoxia;multiple congenital anomalies: microphthalmia;micrognathia;and severe congenital heart defect;alternate breakpoints are 14q32.1;20q11.2

text: 46;XY;der(14)(14pter->14q32.3::20q13.1->20qter)mat.ish der(14)(20QTEL14+).arr 14q32.33(103827157-106356482)x1;20q13.12q13.33(45326775-62426585)x3;46;XY;der(14)(14pter> 14q32.3::20q13.1>20qter)mat;46;XY;der(14)(14pter> 14q32.3::20q13.1>20qter)mat.ish der(14)(20QTEL14+);46;XY;der(14)(14pter>14q32.3::20q13.1>20qter)mat.ish der(14)(20QTEL14+)

text: Homo sapiens

text: Caucasian

text: Male

text: Translocated chromosome

text: GM08123 male unaffected Translocated chromosome sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Amyotrophic lateral sclerosis 1

text: 48 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND14077 male affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 1 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Black/Caucasian;hypotonia;hyperconvex nails;epicanthal folds;and flat nasal bridge;normal RBC SOD1;normal WBC G6PD;CPK;and A-galactosidase

characteristic: description

text: proband

text: 46;X;der(X)(Xpter->Xq22.3::21q11.2->21qter)mat.arr Xq22.3q28(109833598-154887040)x1;21q11.2q22.3(13286389-46921373)x3;46;X;der(X)(Xpter>Xq22.3:: 21q11>21qter)mat

characteristic: karyotype

text: Homo sapiens

text: Other

text: Female

text: Translocated chromosome

text: GM08134 female unaffected Translocated chromosome sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 28 YR

text: B-Lymphocyte

text: NINDS Repository

text: daughter-in-law

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Control

text: Population/convenience control

text: ND14078 female unaffected Control sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 24 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;two similarly affected children with unbalanced translocation;normal RBC SOD1;normal WBC G6PD;CPK;& A-galactosidase

text: mother

text: 46;X;t(X;21)(Xpter>Xq22.3::21q11> 21qter;21pter>21q11::Xq22.3>Xqter)

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Translocated chromosome

text: GM08135 female unaffected Translocated chromosome sample


text: Coriell

text: live

text: Generic

text: 48 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND14077

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Control

characteristic: tag

text: Population/convenience control

text: ND14079 female unaffected Control sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 26 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically normal;see GM08148 Fibroblast;88% of peripheral blood lymphocytes had a 17p- marker chromosome;60% of lymphoblasts have the del(17)(:p11.2> cen:)

text: mother

text: 47;XX;del(17)(pter>p11.2::p10>qter);+der(17)(:p11.2>q10:) 39 / 46;XX;del(17)(pter>p11.2::p10>qter) 11 .ish del(17)(D17Z1+);der(17)(D17Z1+)

text: Homo sapiens

text: Caucasian

text: Female

text: Chromosome deletion

text: GM08145 female unaffected Chromosome deletion sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Amyotrophic lateral sclerosis 1

text: 58 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND14085

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND14081 male affected Amyotrophic lateral sclerosis 1 sample

characteristic: title


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 6 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Mental retardation;short stature;developmental delay;& minor anomalies;normal CT scan

characteristic: description

text: proband

text: 46;XX;del(17)(pter->p12::p11.1->qter)mat.ish del(17)(D17Z1+).arr 17p12p11.1(13050910-22159777)x1;46;XX;del(17)(pter>p11.2::p10>qter)mat .ish del(17)(D17Z1+)

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Chromosome deletion

text: GM08146 female unaffected Chromosome deletion sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 52 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND14081

text: spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Population/convenience control

text: ND14085 female unaffected Population/convenience control sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 1 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Short stature;developmental delay;and minor anomalies;normal CT scan;46;XY in peripheral blood lymphocytes;5% of skin fibroblasts show 17p marker chromosome;Repository culture does not show the 17p marker chromosome

text: brother

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Marker chromosome

text: GM08147 male unaffected Marker chromosome sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 71 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: Amyotrophic lateral sclerosis 1

text: ND14086 male affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 26 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically normal;see GM08145 Lymphoid;88% of peripheral blood lymphocytes had a 17p- marker chromosome;82% of fibroblasts have the del(17)(:p11.2>cen:)

characteristic: family id

text: mother

text: 47;XX;del(17)(pter>p11.2::p10>qter);+der(17)(:p11.2>q10:) 41 / 46;XX;del(17)(pter>p11.2::p10>qter) 9 .ish del(17)(D17Z1+);der(17)(D17Z1+)

text: Homo sapiens

text: Caucasian

text: Female

text: Chromosome deletion

text: GM08148 female unaffected Chromosome deletion sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 66 YR

text: B-Lymphocyte

text: NINDS Repository

text: unaffected spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Control

text: Population/convenience control

text: ND14087 female unaffected Control sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 51 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Type I bipolar illness;positive family history;onset at age 31;2 episodes of major depression;4 episodes of mania;on Lithium;2 similarly affected sons and 1 daughter;see GM05156A Lymphoid

characteristic: description

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: GM08154 female affected Major affective disorder - 125480 or 309200 sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 44 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND14117

text: spouse

text: Homo sapiens

text: African American

characteristic: race

text: Female

text: Control

text: Ndpt111 - neurologicaly normal african american conrol panel

text: Population/convenience control

text: Ndpt031- african american control panel

text: ND14116 female unaffected Population/convenience control sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Amyotrophic lateral sclerosis 1

text: 45 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND14116

text: proband

text: Homo sapiens

text: African American

text: Male

characteristic: sex

text: Amyotrophic lateral sclerosis 1

text: ND14117 male affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 42 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND14125

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND14123 male affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

text: live

text: Generic

text: 45 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: NATIVE ALASKAN

characteristic: ethnicity

text: unaffected spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Control

characteristic: tag

text: Population/convenience control

text: ND14125 female unaffected Control sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Biotinidase

text: 11 MO

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Undetected serum biotinidase activity;normal weight;length;and head circumference;normal develop milestones;serum electrolytes;and lactate concentrations;slight hypertonia;brisk deep-tendon reflexes bilaterally;and very fine scalp hair;no organic aciduria

text: Homo sapiens

text: Caucasian

text: Female

text: Btd multiple carboxylase deficiency, late-onset, included

text: Biotinidase

text: GM08177 female affected Biotinidase sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 70 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND14126 male affected Amyotrophic lateral sclerosis 1 sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Cirrhosis familial

text: 4 MO

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: A sister died at age 17 days of congenital cirrhosis/hepatic failure;below the 3rd %ile for weight;length;& head circumference;giant cell neonatal hepatitis;general urine aminoaciduria;normal alpha-1-antitrypsin;see GM08197 Fibro

characteristic: description

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Cirrhosis, familial, with pulmonary hypertension included

text: Cirrhosis familial

text: GM08196 female affected Cirrhosis familial sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: 50 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND14126

text: unaffected spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Population/convenience control

text: ND14127 female unaffected Population/convenience control sample


text: Coriell

text: live

text: Generic

text: Cirrhosis familial

text: 4 MO

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: A sister died at age 17 days of congenital cirrhosis/hepatic failure;below the 3rd %ile for weight;length;& head circumference;giant cell neonatal hepatitis;general urine aminoaciduria;normal alpha-1-antitrypsin;see GM08196 Lymph

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: Cirrhosis familial

text: GM08197 female affected Cirrhosis familial sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 59 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Control

text: Population/convenience control

text: ND14133 male unaffected Control sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Beckwith-wiedemann syndrome

text: 7 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Culture established from a liver hepatoblastoma;macroglossia;hypoglycemia;bilateral enlarged kidneys;normal bone age;typical facies: large;thickened protruding tongue & prominent jaw;umbilical hernia;46;XY

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Beckwith-wiedemann syndrome

text: BWS

text: GM08206 male affected Beckwith-wiedemann syndrome sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 70 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND14137 male affected Amyotrophic lateral sclerosis 1 sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: XPD

text: 19 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: XP6BE;SV40 transformed;positive family history;neurological complications;passage 3 at CCR;karyotype is female;78% near diploid;22% near tetraploid;and all cells show chromosome aberrations;donor subject is a compound heterozygote for mutations in the ERCC2 gene: one allele carries a C-to-T substitution at nucleotide 2047 in the ERCC2 cDNA (2047C>T) which results in a change of Arg-683 to Trp Arg683Trp (R683W) and the second allele deletion of 78 nucleotides in exon 3 beginning at nucleotide 106 which results in the deltion of amino acids 36 to 61 (DEL 36_61).

characteristic: description

text: proband

characteristic: gene

text: XX;Unstable karyotype

text: 78 bp deletion (106-183)

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Xeroderma pigmentosum, complementation group d

text: XPD

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

text: GM08207 female affected XPD sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 63 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND14137

text: spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Control

characteristic: tag

text: Population/convenience control

text: ND14138 female unaffected Control sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: 4 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Growth;motor;& mental retardation;facial asymmetry;prominent forehead;high arched palate;elevated nasal bridge;micrognathia;ulnar deviation of 2nd & 3rd fingers bilaterally;normal fibroblast SOD-1 activity

text: 45;XX;der(4)(4qter>4p16.3:: 21q11.2>21qter);-21;45;XX;der(4)t(4;21)(21qter->21q11.2::4p16.3->4qter);-21.ish der(4)t(4;21)(VIJyRM2029+;LSI21q+;4ptel02-;LSI WHS-;CEP4+)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Translocated chromosome

text: GM08210 female unaffected Translocated chromosome sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Parkinson disease

text: 55 YR

text: B-Lymphocyte

text: NINDS Repository

text: same subject as ND29756

characteristic: family id

text: proband

text: GBA

text: Homo sapiens

text: Caucasian

text: Female

text: Parkinson disease

text: ND14143 female affected Parkinson disease sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Cystic fibrosis

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Two affected sibs

characteristic: description

text: sister

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: CF

text: Cystic fibrosis

text: GM08211 female affected Cystic fibrosis sample


text: Coriell

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 51 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Amyotrophic lateral sclerosis 1

text: ND14149 male affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: 18 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected

text: WELSH

characteristic: ethnicity

text: maternal cousin

text: Homo sapiens

text: Caucasian

text: Male

text: MFS

characteristic: tag

text: Marfan syndrome

text: GM08228 male unaffected Marfan syndrome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 50 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffeced spouse of ND14149

text: unaffected spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND14150 female unaffected Population/convenience control sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Renal hamartomas

text: 14 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Fetal macrosomia;multiple congenital anomalies;postnatal developmental delay with mental retardation;renal dysplasia with Wilm's tumor;hyperplasia of the endocrine pancreas;a sib with Perlman syndrome died at 8 months of age

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Renal hamartomas

text: Nephroblastomatosis and fetal gigantism

text: GM08246 female affected Renal hamartomas sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Progressive supranuclear palsy

text: 70 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Progressive supranuclear palsy

text: ND14157 male affected Progressive supranuclear palsy sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 34 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;2 affected children

characteristic: description

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Renal hamartomas

text: Nephroblastomatosis and fetal gigantism

text: GM08247 female unaffected Renal hamartomas sample


text: Coriell

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 55 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Intracranial aneurysm - unruptured

text: ND14165 female affected Intracranial aneurysm - unruptured sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: 2 MO

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Bifid scrotum;displaced anus;micropenis;micrognathia;space between big toes;broad nasal bridge;& slightly rotated cupped ears

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Translocated chromosome

text: GM08254 male unaffected Copy number variation (cnv) refernece panel 02 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 62 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected spouse is ND14173

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: Amyotrophic lateral sclerosis 1

text: ND14172 male affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: Factor x deficiency

text: 15 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Post-operative bleeding;14% of control factor X activity

text: Homo sapiens

text: Caucasian

text: Male

text: Factor x deficiency

text: GM08256 male affected Factor x deficiency sample


text: Coriell

text: live

text: Generic

text: 60 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND14172

characteristic: description

characteristic: family id

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND14173 female unaffected Population/convenience control sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 22 FW

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Hispanic

text: HISPANIC

characteristic: ethnicity

text: 46;XX;der(13)(13pter->13q14.3::10q26.2->10qter).ish der(13)(RB1+;D10S2490+).arr 10q26.2q26.3(129719463-135356682)x3;13q14.3q34(51274486-114126487)x1;46;XX;der(13)(13pter>13q14.2:: 10q26>10qter).ish der(13)(RB1+;D10S2490+)

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Translocated chromosome

text: GM08263 female unaffected Translocated chromosome sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: Progressive bulbar palsy

text: 55 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Progressive bulbar palsy

text: ND14180 female affected Progressive bulbar palsy sample


text: Coriell

text: live

text: Generic

text: 41 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: 46;XX;12% of cells show random chromosome loss/gain

text: 46;XX;47;XX;+11 2 /46;XX 48

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Apparently healthy non-fetal tissue

characteristic: tag

text: GM08271 female unaffected Apparently healthy non-fetal tissue sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: Progressive bulbar palsy

text: 43 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Progressive bulbar palsy

text: ND14181 female affected Progressive bulbar palsy sample


text: Coriell

text: live

text: Generic

text: 28 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Two sibs with type I bipolar illness;minor depression;drug abuse;sexual deviation;onset at age 14;see GM05910 Lymphoid

characteristic: description

characteristic: family id

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: GM08272 female affected Major affective disorder - 125480 or 309200 sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 42 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Population/convenience control

text: ND14184 female unaffected Population/convenience control sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 33 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;father is affected

text: paternal second cousin

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: GM08283 male unaffected Maturity-onset diabetes of the young type i sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Amyotrophic lateral sclerosis 1

text: 46 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected spouse is ND14184

text: ITALIAN

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND14185 male affected Amyotrophic lateral sclerosis 1 sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: TS

text: 18 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;diagnosed with epilepsy at age 10 mo.;at age 2 yrs with TS;skin lesions at 10 mo.;height 165 cm and weight 65.3 kg at age 18 yr;numerous adenofibromas about face;shagreen patches;CT scan of brain revealed multiple punctate calcifications along periphery of lateral ventricles;consistent with calcified tubers of TS;parenchymal calcifications noted in right frontal and left temporo-parietal regions;bilobed or mushroom-shaped mass in the region of the left foramen of Monro (~2 x 2.5 cm);renal ultrasound showed numerous bilateral echogenic masses throughout both kidneys;most likely representing angiomyolipomas;associated with TS;the largest measured 3.5 x 2.5 cm;CT scan of kidneys revealed innumerable low density lesions thought out both kidneys;consistent with angiomyolipomas;MRI of the head showed findings consistent with residual or recurrent tumor in the region of the foramen of Monro (subependymal giant cell astrocytoma);son of GM08584;donor subject has a 1 bp insertion at nucleotide 2468 in exon 21 of the TSC2 gene (2468insT) causing a frameshift (Leu823fsX882)

text: half-brother

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Tuberous sclerosis

characteristic: tag

text: Tsc2 gene

text: TS

text: GM08296 male affected TS sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: Amyotrophic lateral sclerosis 1

text: 73 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Amyotrophic lateral sclerosis 1

text: ND14188 female affected Amyotrophic lateral sclerosis 1 sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 21 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically not affected;height;173 cm;weight;68 kg;CT scan of brain was normal;ultrasound of kidneys normal;family history of tuberous sclerosis;brother of GM08296 (affected);half-brother of GM08299 (affected);son of GM08584 (unaffected);mutation not found in TSC2 gene

characteristic: description

text: half-brother

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Tuberous sclerosis

text: TS

text: GM08297 male unaffected Tuberous sclerosis sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 80 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected spouse is ND14188

text: unaffected spouse

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Population/convenience control

text: ND14189 male unaffected Population/convenience control sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 50 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically not affected;height;160 cm;weight;67 kg;CT scan of brain was normal;normal ultrasound of kidneys;family history of tuberous sclerosis;married to GM08584 (unaffected);sons are GM08296 (affected) and GM08297 (unaffected);mutation not found in TSC2 gene.

text: in-law

text: Homo sapiens

text: Caucasian

text: Female

text: Tuberous sclerosis

text: TS

text: GM08298 female unaffected Tuberous sclerosis sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: Intracranial aneurysm - unruptured

text: 64 YR

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Intracranial aneurysm - unruptured

characteristic: tag

text: ND14203 male affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

text: Generic

text: TS

text: 37 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;hype;shagreen patches;CT scan of brain revealed multiple ependymal throughout the cerebral ventricular system;consistent with TS;CT of the abdomen showed probable angiomyolipomata in the liver and both kidneys;renal ultrasound showed numerous bilateral echogenic masses throughout both kidneys;most likely representing angiomyolipomas;associated with TS;CT scan of kidneys revealed innumerable low density lesions thought out both kidneys;consistent with angiomyolipomas;MRI of the head showed findings consistent with residual or recurrent tumor in the region of the foramen of Monro (subependymal giant cell astrocytoma);son of GM08584;family history of tuberous sclerosis;daughter of GM08584;half-sister of GM08296 (affected);mother of GM08300 (affected);donor subject has a 1 bp insertion at nucleotide 2468 in exon 21 of the TSC2 gene (2468insT) causing a frameshift (Leu823fsX882)

text: ENGLISH/IRISH

characteristic: ethnicity

characteristic: family id

text: proband

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Tuberous sclerosis

text: Tsc2 gene

text: TS

text: GM08299 female affected TS sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 60 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND14251

characteristic: description

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Amyotrophic lateral sclerosis 1

text: ND14250 female affected Amyotrophic lateral sclerosis 1 sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

text: TS

text: 15 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;seizures at age 3 mo;at age 2 yrs with TS;skin lesions at 10 mo.;periungual fibromas;shagreen patches;son of GM08299;donor subject has a 1 bp insertion at nucleotide 2468 in exon 21 of the TSC2 gene (2468insT) causing a frameshift (Leu823fsX882)

text: son

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Tuberous sclerosis

text: Tsc2 gene

text: TS

text: GM08300 male affected TS sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: 61 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND14250

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

characteristic: tag

text: ND14251 male unaffected Population/convenience control sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Krabbe disease

text: 1 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Atypical;bilateral cherry-red spots in retinas;symmetric spasticity;extremely irritable;unable to tolerate liquids;expired at age 18 months;deficient fibroblast galactosylceramide B-galactosidase and lactosylceramide I activity

text: Homo sapiens

text: Caucasian

text: Female

text: Krabbe disease

text: GM08304 female affected Krabbe disease sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 63 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND14254

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Als panel lower-limb onset

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

text: Amyotrophic lateral sclerosis 1

text: ND14253 female affected ALS1 sample


text: Coriell

text: live

text: Generic

text: 58 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;2 children with type I bipolar illness;sister has type II bipolar illness;mother had unipolar illness;see GM05945 Lymphoid

characteristic: description

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: GM08329 female unaffected Major affective disorder - 125480 or 309200 sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

text: 63 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND14253

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: ND14254 male unaffected Population/convenience control sample


text: Coriell

text: live

text: Generic

text: 63 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically unaffected;2 children have type I bipolar illness;twin sister has unipolar illness;see GM05946A Lymphoid

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: GM08330 male unaffected Major affective disorder - 125480 or 309200 sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 44 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND14260

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Population/convenience control

text: ND14259 male unaffected Population/convenience control sample


characteristic: DNA id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: 4 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Facial asymmetry;wide-spaced eyes;bilateral epicanthal folds;low-set ears;maxillary hypoplasia;hypertonia;severe psychomotor retardation;50th percentile for height;weight;and head circumference

text: 46;XY;del(13)(pter->q31::q34->qter).arr 8p23.1(7254763-7864765)x3;13q32.1q33.3(96956971-109061570)x1;46;XY;del(13)(pter>q32.3:)

characteristic: karyotype

text: Homo sapiens

text: Black

text: Male

text: Copy number variation (cnv) reference panel

text: Chromosome deletion

text: GM08331 male unaffected Chromosome deletion sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 47 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND14259

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: Amyotrophic lateral sclerosis 1

text: ND14260 female affected Amyotrophic lateral sclerosis 1 sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 5 MO

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Foreskin fibroblast culture;46;XY with 4% of the cells examined showing random chromosome loss and 2% showing random chromosomal aberrations

characteristic: description

characteristic: family id

text: proband

text: Homo sapiens

text: Black

text: Male

text: Apparently healthy non-fetal tissue

text: GM08333 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

text: Amyotrophic lateral sclerosis 1

text: 57 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND14261 male affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 12 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically unaffected;2 affected sibs

text: brother

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: CF

text: Cystic fibrosis

text: GM08334 male unaffected Cystic fibrosis sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: Amyotrophic lateral sclerosis 1

text: 84 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse if ND14266

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND14262 male affected Amyotrophic lateral sclerosis 1 sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: 8 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;2 affected sibs

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: CF

text: Cystic fibrosis

text: GM08335 female unaffected Cystic fibrosis sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 77 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother-in-law

text: Homo sapiens

text: Caucasian

text: Female

text: Control

characteristic: tag

text: Population/convenience control

text: ND14264 female unaffected Control sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 3 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;2 affected sibs

characteristic: description

characteristic: family id

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: CF

text: Cystic fibrosis

text: GM08336 male unaffected Cystic fibrosis sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

text: 53 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND14261

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Control

text: Population/convenience control

text: ND14265 female unaffected Control sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 37 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: One affected daughter;2 affected nieces;and 1 affected cousin;heterozygous for the F508 deletion mutation PHE508DEL

text: maternal aunt

text: CFTR

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: CF

text: Cystic fibrosis

text: Cystic fibrosis transmembrane conductance regulator

text: CFTR

text: GM08337 female unaffected CF sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: 79 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected spouse of ND14262

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Control

text: Population/convenience control

text: ND14266 female unaffected Control sample


characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 39 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Spouse of GM08337;1 affected daughter;heterozygous for the GLY551ASP (G551D) mutation;analysis of a DNA variant in a noncoding region of the CFTR gene (polypyrimidine tract in intron 8) showed this donor has alleles 7T/9T

text: in-law

text: CFTR

text: Homo sapiens

text: Caucasian

text: Male

text: Human gene mutation panel - cystic fibrosis (version 2)

characteristic: tag

text: CF

text: Cystic fibrosis

text: CFTR

text: GM08338 male unaffected CF sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 44 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND14276

characteristic: description

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND14277 male affected Amyotrophic lateral sclerosis 1 sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

text: 17 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Son of GM08337 & GM08338A;1 affected sib

text: maternal cousin

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: CF

text: Cystic fibrosis

text: GM08339 male unaffected Cystic fibrosis sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: 53 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND14295

text: unaffected spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Control

text: Population/convenience control

text: ND14292 female unaffected Control sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 15 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Daughter of GM08337 & 08338A;1 affected sib

text: maternal cousin

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: CF

text: Cystic fibrosis

text: GM08340 female unaffected Cystic fibrosis sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Als panel bulbar onset all definite als

text: 52 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND14292

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Als panel bulbar onset all definite als

text: Amyotrophic lateral sclerosis 1

text: ND14295 male affected Als panel bulbar onset all definite als sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 12 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: maternal cousin

text: Homo sapiens

text: Caucasian

text: Male

text: CF

characteristic: tag

text: Cystic fibrosis

text: GM08341 male unaffected Cystic fibrosis sample


text: Coriell

text: live

text: Generic

text: 63 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND14303

characteristic: description

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Primary lateral sclerosis

text: ND14300 female affected Primary lateral scleroris: caucasian, non-hispanic sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

text: CF

text: 4 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Affected daughter of GM08337 & GM08338;bilateral bronchial pneumonia & pancreatic achylia with malabsorption;donor subject is a compound heterozygote: one allele carries the deltaF508 deletion mutation (PHE508DEL) and a second allele carries a G-to-A transition at nucleotide 1784 (1784G>A) which converts the gly-551 codon (GGT) to an asp (GAT);resulting in a missense mutation in exon11 in the CFTR gene GLY551ASP (G551D)

text: maternal cousin

text: CFTR

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: CF

text: Cystic fibrosis

text: CFTR

text: GM08342 female affected CF sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: 63 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND14300

text: unaffected spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Control

text: Population/convenience control

text: ND14303 male unaffected Control sample


characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 76 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Possible heterozygote;1 affected grandson

text: maternal great aunt

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: CF

text: Cystic fibrosis

text: GM08343 female unaffected Cystic fibrosis sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 30 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND14308

characteristic: description

text: unaffected spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Control

characteristic: tag

text: Population/convenience control

text: ND14307 female unaffected Control sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

text: 49 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: One affected son;daughter of GM08343;heterozygous for the F508 deletion mutation PHE508DEL

characteristic: family id

text: maternal cousin

text: CFTR

text: Homo sapiens

text: Caucasian

text: Female

text: CF

text: Cystic fibrosis

text: Cystic fibrosis transmembrane conductance regulator

text: CFTR

text: GM08344 female unaffected CF sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: Amyotrophic lateral sclerosis 1

text: 34 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND14308 male affected Amyotrophic lateral sclerosis 1 sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: CF

text: 26 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Affected son of GM08344;grandson of GM08343;3 affected cousins;meconium ileus at birth;elevated sweat chloride;multiple pulmonary exacerbations;homozygous for the F508 deletion mutation PHE508DEL

text: maternal cousin

text: CFTR

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: CF

text: Cystic fibrosis

text: CFTR

text: GM08345 male affected CF sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 58 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected spouse of ND14310

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Control

text: Population/convenience control

text: Neurologically normal caucasian control panel

text: ND14309 female unaffected Control sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

text: 40 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal

characteristic: description

text: proband

text: 46;XX;t(6;16)(6pter>6q15::16q24>16qter;16pter>16q24::6q15>6qter)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Translocated chromosome

characteristic: tag

text: GM08352 female unaffected Translocated chromosome sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: Amyotrophic lateral sclerosis 1

text: 62 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND14310 male affected Amyotrophic lateral sclerosis 1 sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 88 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Normal fasting plasma glucose;spouse of affected paternal uncle of GM01247A;mother of GM08086;08091A;08273;08274;08275;08276;08277;& 08278;affected spouse had diabetes diagnosed at age 45

text: in-law

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: GM08362 female unaffected Maturity-onset diabetes of the young type i sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Parkinson disease

text: 53 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: same subject as ND29542

text: proband

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinson disease

text: ND14317 male affected Parkinson disease sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

text: 29 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Impaired glucose tolerance test;son of GM10121B

characteristic: description

text: paternal second cousin

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: GM08365 male unaffected Maturity-onset diabetes of the young type i sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: Amyotrophic lateral sclerosis 1

text: 54 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected spouse is ND14336

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: Amyotrophic lateral sclerosis 1

text: ND14335 male affected Amyotrophic lateral sclerosis 1 sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: HEMB

text: 17 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Factor IX deficiency diagnosed at age 15 mos;Factor IX level <1%;hemarthroses involving multiple joints & a massive intramuscular hematoma;prolonged PPT;mother & 2 sisters have normal Factor IX levels;donor subject is heterozygous for a C>T mutation at nucleotide 677 in exon 4 of the methylenetetrahydrofolate reductase (MTHFR) gene 677C>T that results in a substitution of a valine for an alanine at codon 222 Ala222Val (A222V);donor subject is homozygous normal for the R506Q mutation in the F5 gene and for the 20210G>A variant in the prothrombin gene (F2)

text: MTHFR

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: HEMB

text: Hemophilia b

text: MTHFR

text: 5,10-methylenetetrahydrofolate reductase

text: GM08369 male affected HEMB sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 51 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND14335

characteristic: family id

text: spouse

text: Homo sapiens

text: African American

characteristic: race

text: Female

text: Control

text: Ndpt111 - neurologicaly normal african american conrol panel

text: Population/convenience control

text: Ndpt031- african american control panel

text: ND14336 female unaffected Population/convenience control sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Two affected children;heterozygote level of serum liver/bone/kidney alkaline phosphatase activity

text: ITALIAN

characteristic: ethnicity

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Phosphoethanolaminuria - 241500 or 241510

text: Hypophosphatasia

text: GM08371 male unaffected Hypophosphatasia sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Intracranial aneurysm - unruptured

text: 55 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Intracranial aneurysm - unruptured

text: ND14369 female affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: description

text: ITALIAN

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: Hypophosphatasia

text: GM08372 female unaffected Hypophosphatasia sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Epilepsy

text: 4 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Epilepsy

text: ND14373 male affected Epilepsy sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Hypophosphatasia

text: 1 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: See GM08435 & GM08690 Fibroblast;similarly affected sib is GM08581 Amniotic;expired at age 19 mo

text: ITALIAN

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Hypophosphatasia

text: GM08373 female affected Hypophosphatasia sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 62 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND14381

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Amyotrophic lateral sclerosis 1

text: ND14379 female affected Amyotrophic lateral sclerosis 1 sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 11 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Ecuadorian;frequent episodes of unexplained fever;self abusive behavior;self mutilation;abnorm histamine test;dry skin;develop delay;abnorm sural nerve bx;similarly affected brother;consang parents;see GM03904 Fibroblast

text: ECUADORIAN

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: GM08382 male affected Neuropathy, congenital sensory, with anhidrosis sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: 65 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND14379

text: unaffected spouse

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Control

text: Population/convenience control

text: ND14381 male unaffected Control sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 8 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Ecuadorian;frequent episodes of unexplained fever;self abusive behavior;dry skin;abnormal histamine test;developmental delay;self mutilation;similarly affected brother;consanguineous parents;see GM03903 Fibroblast

characteristic: description

text: ECUADORIAN

text: brother

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: GM08383 male affected Neuropathy, congenital sensory, with anhidrosis sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Primary lateral sclerosis

text: 64 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Primary lateral sclerosis

text: ND14383 female affected Primary lateral sclerosis sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 47 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;2 sons with congenital sensory neuropathy with anhidrosis

text: ECUADORIAN

characteristic: family id

text: father

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: GM08384 male unaffected Neuropathy, congenital sensory, with anhidrosis sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 68 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected spouse of ND14383

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Control

text: Population/convenience control

text: Neurologically normal caucasian control panel

text: ND14384 male unaffected Control sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: 38 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: ECUADORIAN

characteristic: ethnicity

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: GM08385 female unaffected Neuropathy, congenital sensory, with anhidrosis sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 38 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Amyotrophic lateral sclerosis 1

text: ND14386 male affected Amyotrophic lateral sclerosis 1 sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 3 DA

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Hydrocephalus;oligohydramnios;large head;microphthalmia;prominent occiput;small chin;bulbous tip nose;narrow chest;ulnar deviation of the fingers;cortical thumbing

characteristic: description

text: 46;XX;der(6)(6pter->6q27::10q23.3->10qter)mat.arr 6q27(167656859-170824447)x1;8p23.1(7237777-7836249)x3;10q23.31q26.3(90319889-135356682)x3;46;XX;der(6)(6pter>6q27:: 10q22.3>10qter)mat

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Translocated chromosome

characteristic: tag

text: GM08386 female unaffected Translocated chromosome sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 51 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND14398

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Control

text: Population/convenience control

text: ND14397 female unaffected Control sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 37 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: See GM08388 Lymphoid;1 affected child

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: AT

text: Ataxia-telangiectasia

text: GM08387 female unaffected Ataxia-telangiectasia sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: Amyotrophic lateral sclerosis 1

text: 57 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND14398 male affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

text: live

text: Generic

text: 37 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: 46;XX;see GM08387 Fibroblast;1 affected child;mother of GM08436 and spouse of GM08390;donor subject has a substitution at nucleotide 5932 (5932G>T) in exon 42 resulting in a truncation at codon 1978 Glu1978ter (E1978X)

characteristic: description

text: mother

text: ATM

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: AT

text: Ataxia-telangiectasia

text: Ataxia-telangiectasia mutated gene

text: ATM

text: GM08388 female unaffected AT sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Als panel bulbar onset all definite als

text: 53 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND14400

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: Als panel bulbar onset all definite als

text: Amyotrophic lateral sclerosis 1

text: ND14399 female affected Als panel bulbar onset all definite als sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 38 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: See GM08390 Lymphoid;1 affected child

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: AT

text: Ataxia-telangiectasia

text: GM08389 male unaffected Ataxia-telangiectasia sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 47 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected spouse of ND14399

characteristic: family id

text: spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Control

text: Population/convenience control

text: ND14400 male unaffected Control sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: 38 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: 46;XY;see GM08389 Fibroblast;1 affected child;father of GM08436 and spouse of GM08388;donor subject has a 4bp deletion at nucleoside 4642 (4642del4) in exon 33 resulting in a frameshift and truncation at codon 1548 Asp1548ter (D1548X)

text: father

text: ATM

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: AT

text: Ataxia-telangiectasia

text: Ataxia-telangiectasia mutated gene

text: ATM

text: GM08390 male unaffected AT sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 48 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND14404

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Amyotrophic lateral sclerosis 1

text: ND14402 male affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 8 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Skin biopsy (inguinal)

text: Homo sapiens

text: Caucasian

text: Male

text: Apparently healthy non-fetal tissue

characteristic: tag

text: GM08398 male unaffected Apparently healthy non-fetal tissue sample