text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;diagnosed at age 21 yr;deceased at 32 yr;family history of NPC;clumsy;learning difficulties;ataxia;vertical gaze palsy;dysarthria;dysphagia;psychiatric disorder;absence of communication;difficulty with movement;constant difficulty swallowing;fibroblasts showed 10 pmol CE/mg protein/6 hr activity in a cholesterol esterification assay normal mean was 1855 +/- 1327 pmol CE/mg protein/6 hr;see Park et al. Hum Mut 22:313-325 (2003);fibroblasts were scored as npc-like in a filipin staining assay (see Park et al.;2003);a complementation test showed that the cells were of the type 1 complementation group (see Park et al.;2003);the donor subject is a compound heterozygote at the NPC1 gene locus: allele 1 carries a 2 bp deletion mutation (delAG) at nucleotide 451 (c.451_452delAG;451delAG) in exon 4;allele 2 carries a substitution of A>G at nucleotide 2474 (c.2474A>G) in exon 16;resulting in a missense mutation at codon 825 Y825C (TYR825CYS);the subject also carries the following polymorphism: A>G at nucleotide 644 (c.644A>G) resulting in the substitution of arginine for histidine (H>R) at codon 215 H215R (HIS215ARG);the first nucleotide of the initiating Met codon is numbered +1.

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Npc1 gene

text: Niemann-pick disease type c1

text: GM17924 female affected NPC1 sample


status: PUBLIC

characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: Epilepsy

tag: attribute

text: 16 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Male

characteristic: sex

text: Epilepsy

characteristic: tag

text: ND29132 male affected Epilepsy sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;diagnosed at age 3 yr 9 mo;deceased at age10 yr 10 mo;premature birth;jaundiced;clumsy;learning difficulties;ataxia;vertical gaze palsy;cataplexy;dysphagia;gastrostomy;seizures;sleeping problems;wheelchair bound;absence of communication;fibroblasts showed 52 pmol CE/mg protein/6 hr activity in a cholesterol esterification assay normal mean was 1855 +/- 1327 pmol CE/mg protein/6 hr;see Park et al. Hum Mut 22:313-325 (2003);fibroblasts were scored as npc-like in a filipin staining assay (see Park et al.;2003);a complementation test showed that the cells were of the NPC type 1 complementation group (see Park et al.;2003);the donor subject is a compound heterozygote at the NPC1 gene locus: allele 1 carries a substitution (T>C) at nucleotide 3182 (c.3182T>C) in exon 21;resulting in a missense mutation at codon 1061 I1061T (ILE1061THR);allele 2 carries a substitution (A>C) at nucleotide 1526 (c.1526A>C) in exon 9;resulting in a missense mutation at codon 509 Y509S (TYR509SER);the subject also carries the following polymorphisms: A>G at nucleotide 644 (c.644A>G) resulting in the substitution of arginine for histidine (H>R) at codon 215 H215R (HIS215ARG);A>G at nucleotide IVS11+60 (IVS11+60A>G) resulting in no change in the predicted amino acid sequence;C>T at nucleotide 2793 (c.2793C>T) resulting in no change (N>N) at codon 931 N931N (ASN931ASN);T>C at nucleotide IVS19+28 (IVS19+28T>C) resulting in no change in the predicted amino acid sequence;the first nucleotide of the initiating Met codon is numbered +1.

characteristic: description

text: proband

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Npc1 gene

text: Niemann-pick disease type c1

text: GM17926 female affected NPC1 sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 45 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Intracranial aneurysm - unruptured

text: ND29138 male affected Intracranial aneurysm - unruptured sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: 40 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;taking testosterone;epiphyseal dysplasia;small penis;small testes;hypoplastic tubules;diminished Leydig cells;obesity;childhood bronchial asthma;prone to high fevers;gallbladder removed;dyslexia and unspecified learning disabilities;major depressive episode in partial remission

text: RUSSIAN/JEWISH

characteristic: ethnicity

text: 47;XXY 3 /46;XX 17;47;XXY 47 /46;XX 2 /48;XXXY 1

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Klinefelter syndrome

text: Xxy syndrome

text: GM17931 male affected Aneuploid chromosome number - non-trisomic sample


text: Coriell

text: live

text: Generic

text: 50 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

characteristic: family id

text: sister

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: sex

characteristic: tag

text: ND29139 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: Cerebellar hypoplasia

text: 38 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;seizure disorder;dementia;hypogonadotrophic hypogonadism;CoQ10 deficiency

characteristic: description

text: Homo sapiens

text: African American

text: Female

text: Cerebellar hypoplasia

text: GM17932 female affected Cerebellar hypoplasia sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Epilepsy

text: 7 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Epilepsy

text: ND29146 male affected Epilepsy sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 32 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Short stature;lowset protuberant ears;dystonia;blepharospasms

text: 46;XY;del(18)(:p11.2>qter).ish del(18)(D18S552-) 7 /46;XY;t(5;16)(5pter>5q13::16q23>16qter;16pter>16q23::5q13>5qter);del(18)(:p11.2>qter).ish del(18)(D18S552-) 4

characteristic: karyotype

text: Homo sapiens

text: African American

text: Male

text: Chromosome deletion

text: GM17933 male unaffected Chromosome deletion sample


text: Coriell

text: live

text: Generic

text: 41 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: parent

text: Homo sapiens

text: Caucasian

text: Male

text: ND29147 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 7 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Ectodermal dysplasia;abnormal teeth;sparse scalp hair;lashes and brows;cleft palate

text: Homo sapiens

characteristic: organism

text: Hispanic/Latino

text: Male

characteristic: sex

text: GM17934 male affected Ankyloblepharon-ectodermal defects-cleft lip/palate sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 47 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND29238 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

text: Velocardiofacial syndrome

text: 3 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;subcutaneous cleft;delayed language;feeding difficulty;typical facies

characteristic: description

text: 46;XY.ish del(22)(q11.2q11.2)(Tuple1-;N85A3+)

text: Homo sapiens

text: Caucasian

text: Male

text: Velocardiofacial syndrome

text: GM17938 male affected Velocardiofacial syndrome sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: 57 YR

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: ND29239 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 13 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;generalized limb weakness;bifacial;scapular;arm and leg weakness with bilateral scapular winging;muscle biopsy showed myopathic changes;elevated serum CPK;D4Z4 repeats for this donor subject are as follows: 4q35: 3/33 copies (clinically unaffected individuals usually have >10 D4Z4 repeats on both alleles at chromosome 4q35) and 10q26: 15/26 copies;a myoblast culture from this same donor is GM17940

text: proband

characteristic: gene

text: D4Z4 REPEATS ON CHROMOSOME 4q35 (<10)

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Fshmd1a (fshd)

text: Fshd gene 1

text: Facioscapulohumeral muscular dystrophy 1a

text: GM17939 male affected FRG1 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 34 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: brother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

characteristic: sex

text: ND29341 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 13 YR

text: Myoblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;generalized limb weakness;bifacial;scapular;arm and leg weakness with bilateral scapular winging;muscle biopsy showed myopathic changes;elevated serum CPK;D4Z4 repeats for this donor subject are as follows: 4q35: 3/33 copies (clinically unaffected individuals usually have >10 D4Z4 repeats on both alleles at chromosome 4q35) and 10q26: 15/26 copies;at the CCR 77% of the cells tested positive for the myoblast-specific marker Desmin at passage 1;5% tested positive for Desmin at passage 12;this culture is a mixture of myoblasts and fibroblasts;myoblasts predominate upon recovery;but fibroblasts take over with increasing passage;the lifespan is at least 34 population doublings;a lymphoblast culture from this same donor is GM17939;culture will only be shipped frozen

characteristic: family id

text: proband

text: D4Z4 REPEATS ON CHROMOSOME 4q35 (<10)

text: Homo sapiens

text: Caucasian

text: Male

text: Fshmd1a (fshd)

characteristic: tag

text: Fshd gene 1

text: GM17940 male affected FRG1 sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

text: 64 YR

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Other

text: Male

text: ND29342 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: 6 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;interrupted aortic arch;ventricular septal defect;hypocalcemia;characteristic facies

characteristic: description

text: 46;XY;del(22)(pter->q11.21::q11.22->qter).ish del(22)(Tuple1-;N85A3+).arr 22q11.21(17030682-19792611)x1;46;XY;del(22)(pter>q11.21::q11.22>qter).ish del(22)(Tuple1-;N85A3+)

characteristic: karyotype

text: Homo sapiens

text: Hispanic/Latino

characteristic: race

text: Male

text: DGS

text: Digeorge syndrome

text: GM17942 male affected Copy number variation (cnv) reference panel sample


text: Coriell

text: live

text: Generic

text: 37 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: ND29343 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: 40 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;white sclerae;fair dentition;bone density score for spine indicates osteoporosis;history of five fractures;see GM17953 Fibroblast;donor is heterozygous for the founder mutation which is a missense mutation resulting from a substitution of G>T at nucleotide 2237 in codon 610 in exon 35 of the COL1A2 gene Gly610Cys (G610C)

text: AMISH

characteristic: ethnicity

text: brother

characteristic: gene

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Osteogenesis imperfecta type iv

text: Collagen type i alpha-2

text: GM17944 male affected OI4 sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

text: 81 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

characteristic: tag

text: ND29344 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: 38 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;white sclerae;fair dentition;bone density score is normal;history of one bone fracture;see GM17954 Fibroblast

characteristic: description

text: AMISH

text: brother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Osteogenesis imperfecta type iv

text: GM17945 male unaffected Osteogenesis imperfecta type iv sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Parkinson disease

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: same subject as ND10504

text: proband

text: Homo sapiens

text: Other

text: Female

text: Parkinson disease

text: ND29369 female affected Parkinson disease sample

type: derived from


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 20 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;white sclerae;good dentition;bone density score for spine indicates osteoporosis;history of three bone fractures;see GM17955 Fibroblast;donor is heterozygous for the founder mutation which is a missense mutation resulting from a substitution of G>T at nucleotide 2237 in codon 610 in exon 35 of the COL1A2 gene Gly610Cys (G610C)

text: AMISH

characteristic: ethnicity

text: proband

characteristic: gene

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Osteogenesis imperfecta type iv

text: Collagen type i alpha-2

text: GM17947 male affected OI4 sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

text: Parkinson disease

text: 56 YR

text: Fibroblast

text: NINDS Repository

text: same subject as ND08917

text: Ashkenazi Jewish

characteristic: family id

text: proband

text: EX5-6 DEL

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Parkinson disease

text: ND29370 male affected Parkinson disease sample


characteristic: DNA id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: 14 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;white sclerae;good dentition;bone density score for spine indicates osteoporosis and bone density score for hip (neck) indicates osteopenia;history of one fracture;see GM17956 Fibroblast;donor is heterozygous for the founder mutation which is a missense mutation resulting from a substitution of G>T at nucleotide 2237 in codon 610 in exon 35 of the COL1A2 gene Gly610Cys (G610C)

characteristic: description

text: AMISH

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Osteogenesis imperfecta type iv

characteristic: tag

text: Collagen type i alpha-2

text: GM17948 female affected OI4 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Epilepsy

text: 3 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: brother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Epilepsy

text: ND29418 male affected Epilepsy sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 16 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;white sclerae;good dentition;bone density score for spine indicates osteoporosis;see GM17957 Fibroblast

text: AMISH

characteristic: ethnicity

text: brother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Osteogenesis imperfecta type iv

text: GM17949 male unaffected Osteogenesis imperfecta type iv sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

text: 37 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: ND29419 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: 44 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;white sclerae;good dentition;history of hearing loss;bone density score is normal;history of two bone fractures;see GM17959 Fibroblast

text: AMISH

text: mother

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Osteogenesis imperfecta type iv

text: Apparently healthy non-fetal tissue

text: GM17951 female unaffected Apparently healthy non-fetal tissue sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 32 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND29420 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 8 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;history of one fracture;see GM17960 Fibroblast;donor is heterozygous for the founder mutation which is a missense mutation resulting from a substitution of G>T at nucleotide 2237 in codon 610 in exon 35 of the COL1A2 gene Gly610Cys (G610C)

characteristic: description

text: AMISH

text: brother

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Osteogenesis imperfecta type iv

text: Collagen type i alpha-2

text: GM17952 male affected OI4 sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

text: Parkinson disease

text: 73 YR

text: Fibroblast

text: NINDS Repository

text: same subject as ND29424

text: Ashkenazi Jewish

characteristic: ethnicity

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Parkinson disease

text: ND29423 male affected Parkinson disease sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: 40 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;white sclerae;fair dentition;bone density score for spine indicates osteoporosis;history of five fractures;see GM17944 Lymphoid;donor is heterozygous for the founder mutation which is a missense mutation resulting from a substitution of G>T at nucleotide 2237 in codon 610 in exon 35 of the COL1A2 gene Gly610Cys (G610C)

text: AMISH

characteristic: family id

text: brother

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Osteogenesis imperfecta type iv

text: Collagen type i alpha-2

text: GM17953 male affected OI4 sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 73 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: same subject as ND29423

characteristic: description

text: Ashkenazi Jewish

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinson disease

characteristic: tag

text: ND29424 male affected Parkinson disease sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 38 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;white sclerae;fair dentition;bone density score is normal;history of one bone fracture;see GM17945 Lymphoid

text: AMISH

text: brother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Osteogenesis imperfecta type iv

text: GM17954 male unaffected Osteogenesis imperfecta type iv sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

text: Parkinson disease

text: 80 YR

text: B-Lymphocyte

text: NINDS Repository

text: same subject as ND29494

text: Armenian

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinson disease

text: ND29493 male affected Parkinson disease sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 14 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;white sclerae;good dentition;bone density score for spine indicates osteoporosis and bone density score for hip (neck) indicates osteopenia;history of one fracture;see GM17948 Lymphoid;donor is heterozygous for the founder mutation which is a missense mutation resulting from a substitution of G>T at nucleotide 2237 in codon 610 in exon 35 of the COL1A2 gene Gly610Cys (G610C)

text: AMISH

text: sister

characteristic: gene

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Osteogenesis imperfecta type iv

text: Collagen type i alpha-2

text: GM17956 female affected OI4 sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: Parkinson disease

text: 80 YR

characteristic: age

text: Fibroblast

text: NINDS Repository

text: same subject as ND29493

text: Armenian

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Parkinson disease

text: ND29494 male affected Parkinson disease sample


text: Coriell

text: live

text: Generic

text: 44 YR

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically normal;white sclerae;good dentition;history of hearing loss;bone density score is normal;history of two bone fractures;see GM17951 Lymphoid

characteristic: description

text: AMISH

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Osteogenesis imperfecta type iv

characteristic: tag

text: Apparently healthy non-fetal tissue

text: GM17959 female unaffected Apparently healthy non-fetal tissue sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

text: Parkinson disease

text: 65 YR

text: Fibroblast

text: NINDS Repository

text: same subject as ND14933

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Parkinson disease

text: ND29541 male affected Parkinson disease sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 8 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;history of one bone fracture;see GM17952 Lymphoid;donor is heterozygous for the founder mutation which is a missense mutation resulting from a substitution of G>T at nucleotide 2237 in codon 610 in exon 35 of the COL1A2 gene Gly610Cys (G610C)

text: AMISH

characteristic: ethnicity

text: brother

characteristic: gene

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Osteogenesis imperfecta type iv

text: Collagen type i alpha-2

text: GM17960 male affected OI4 sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: Parkinson disease

text: 57 YR

characteristic: age

text: Fibroblast

text: NINDS Repository

text: same subject as ND14317

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinson disease

text: ND29542 male affected Parkinson disease sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 3 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;birth weight 3.64 kg;anterior fontanelle at birth was widely patent with inner table remodeling;malrotation of the intestines;aberrant right subclavian artery;CT scan of head showed relative hypoplasia of mandible;fusion of the left lambdoidal suture;and subluxation of C1-2 due to missing posterior arch of C1;MRI of spine and brain revealed Chiari-1 malformation with prominence of the ventricles;thinning of the corpus callosum;and brachycephaly due to fusion of the left lambdoidal suture;moderate retardation;can produce a small number of 2 word combinations (at age 4 years 11 months);ambulatory;downward slanting palpebral fissures;open-mouth stance;left posterior plagiocephaly;underbite;flat nasal bridge;forehead is broad and flat;low-set and dysplastic pinna;thickened helices;prominent venous pattern over nasal bridge;high;arched palate;extremities are arachnodactylous without contractures;marfanoid habitus;small joints are lax;echocardiogram showed dilated aortic arch;died at age 4 following complications after intestinal obstruction and bowel rupture;normal female karyotype;affected maternal half-brother.

characteristic: description

text: half-sister

text: Homo sapiens

text: Hispanic/Latino

text: Female

characteristic: sex

text: GM18180 female affected Shprintzen-goldberg craniosynostosis syndrome sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

text: Parkinson disease

text: 50 YR

text: Fibroblast

text: NINDS Repository

text: same subject as ND07278

text: proband

text: 1-BP DEL

text: Homo sapiens

text: More than one race

text: Male

text: Parkinson disease

characteristic: tag

text: ND29543 male affected Parkinson disease sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: 20 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;tall;clinodactyly of the left hand;high arches on feet;small penis;small testes;hypoplastic tubules;and diminished Leydig cells;mild myopia;removal surgery for gynecomastia;low energy and low sex drive;anxiety

text: NORTHERN EUROPEAN

characteristic: ethnicity

text: 47;XXY 17 .ish X (DXZ1x2).ish Y (SRYx1)/47;XYY 28 .ish X (DXZ1x1).ish Y (SRYx2)/46;XY 5 .ish X (DXZ1x1).ish Y (SRYx1)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Klinefelter syndrome

text: Xxy syndrome

text: GM18241 male affected Aneuploid chromosome number - non-trisomic sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: 65 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: sister

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND29608 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 8 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;facial palsy;sensorineural hearing loss;bilateral pes cavus

characteristic: description

text: Homo sapiens

text: Hispanic/Latino

text: Male

text: GM18260 male affected Bulbar palsy, progressive, with sensorineural deafness sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

text: 67 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: ND29609 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Dyggve-melchior-clausen disease

text: 11 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;short trunk;rhizomelic shortening;increasing lordosis;platyspondyly;developmental delay;mental retardation;parents are consanguineous;donor subject is homozygous for a C>G point mutation at nucleotide 48 in exon 2 of the DYM (FLJ90130) gene (48C>G);resulting in a truncation and premature stop at codon 16 TYR16TER (Y16X)

text: DOMINICAN REPUBLICAN

characteristic: ethnicity

text: proband

text: DYM

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Hispanic/Latino

text: Male

text: DYM

characteristic: tag

text: Dymeclin

text: Dyggve-melchior-clausen disease

text: GM18308 male affected Dyggve-melchior-clausen disease sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: 35 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: sister

text: Homo sapiens

text: More than one race

characteristic: race

text: Female

text: ND29610 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: Xxy syndrome

text: 28 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;Jewish;taking testosterone;small penis;small testes;hypoplastic tubules;diminished Leydig cells;cryptorchidism;obesity;myopia;brittle;chipped teeth self-reported as teeth grinding during sleep;bilateral mastectomies for gynecomastia;asthma;photophobia;gastro-esophageal reflux disease;chronic sinusitis;bipolar disorder;borderline personality characteristics;taking Prilosec;Androgel;loperamide;Depakote;and Ambien

characteristic: description

text: RUSSIAN

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Klinefelter syndrome

text: Xxy syndrome

text: GM18310 male affected Xxy syndrome sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

text: Amyotrophic lateral sclerosis 1

text: 44 YR

text: B-Lymphocyte

text: NINDS Repository

text: mexican mestiso and spanish

text: proband

text: Homo sapiens

text: More than one race

text: Male

characteristic: sex

text: Amyotrophic lateral sclerosis 1

text: ND29621 male affected Amyotrophic lateral sclerosis 1 sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: Chromosome deletion

text: 8 MO

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Hypotelorism;microcephaly;holoprosencephaly;single nares

text: 46;XX;der(18)(:p11.1>p11.3::p11.3>qter).ish der(18)(D18S552-;wcp18+)

text: Homo sapiens

text: African American

text: Female

text: Chromosome deletion

characteristic: tag

text: Copy number variation (cnv) refernece panel 02

text: Holoprosencephaly

text: GM18311 female affected Chromosome deletion sample


text: Coriell

text: live

text: Generic

text: 65 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: french;spanish;mexican mestiso

characteristic: ethnicity

characteristic: family id

text: father

text: Homo sapiens

text: More than one race

characteristic: race

text: Male

text: ND29622 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: Azoospermia factor c

text: 30 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;azoospermic;testicular maturation arrest with sperm detected in testicular biopsy sample;the following Y chromosome loci were analyzed by PCR: SRY+;RPS4Y+;ZFY+;RBMY+;PRKY+;AMELY+;PRY+;TSPY+;USP9Y+;VCY+;UTY+;TMSB4Y+;VCY+;CDY2+;XKRY+;SMCY+;EIF1AY+;RBMY1+;PRY+;DYS230+;BPY2-;DAZ-;CDY1-;and DYZ1+

characteristic: description

text: 46;XY.arr cgh Yq11.223q11.23(CN_965882>CN_974919)x0

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Azoospermia factor c

text: GM18331 male affected Azoospermia factor c sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Tourette syndrome

text: 15 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Tourette syndrome

text: ND29627 female affected Tourette syndrome sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Pseudoneonatal adrenoleukodystrophy

text: 1 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;developmental delay;hearing loss from birth;failure to thrive;enlarged liver;leukodystrophy;similarly affected brother;parents are second cousins

text: MIDDLE EASTERN

text: proband

text: Homo sapiens

text: Other

text: Female

characteristic: sex

text: Pseudoneonatal adrenoleukodystrophy

text: GM18346 female affected Pseudoneonatal adrenoleukodystrophy sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 31 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND29628 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 22 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically unaffected mother of an affected child (GM18365);mother of this donor is 3rd cousin of father of this donor

text: mother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Pseudoneonatal adrenoleukodystrophy

text: GM18347 female unaffected Pseudoneonatal adrenoleukodystrophy sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 14 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Tourette syndrome

text: ND29690 female affected Tourette syndrome sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Pseudoneonatal adrenoleukodystrophy

text: 15 MO

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;three tonic-clonic seizures at age 3 months;hypotonia;slow but steady development;at nine months said to have low tone;dysmetria;the amount of C26:0 ug/ml is 4.7 times the mean of our normal control range;phytanic acid is at the upper limit of normal;very long chain fatty acids are higher than normal;see GM18363 Fibroblast

characteristic: description

text: PALESTINIAN

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Pseudoneonatal adrenoleukodystrophy

text: GM18362 male affected Pseudoneonatal adrenoleukodystrophy sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 54 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND29691 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Pseudoneonatal adrenoleukodystrophy

text: 15 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;three tonic-clonic seizures at age 3 months;hypotonia;slow but steady development;at nine months said to have low tone;dysmetria;the amount of C26:0 ug/ml is 4.7 times the mean of our normal control range;phytanic acid is at the upper limit of normal;very long chain fatty acids are higher than normal;see GM18362 Lymphoblast

text: PALESTINIAN

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Pseudoneonatal adrenoleukodystrophy

text: GM18363 male affected Pseudoneonatal adrenoleukodystrophy sample


text: Coriell

text: live

text: Generic

text: 76 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: ND29704 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 60 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: sister

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND29705 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 59 YR

text: Fibroblast

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: same subject as ND14143

text: proband

text: GBA

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Parkinson disease

text: ND29756 female affected Parkinson disease sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Pseudoneonatal adrenoleukodystrophy

text: 2 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;mildly dysmorphic;hypotonia;posturing;abnormal hair whorls;abnormal CT scan;leukodystrophy;slow development;loss of skills;very long chain fatty acids and phytanic acid are higher than normal

characteristic: description

text: MIDDLE EASTERN

characteristic: ethnicity

text: Homo sapiens

text: Other

text: Male

text: Pseudoneonatal adrenoleukodystrophy

text: GM18364 male affected Pseudoneonatal adrenoleukodystrophy sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 25 YR

text: Fibroblast

text: NINDS Repository

text: daughter

text: HD

text: Homo sapiens

characteristic: organism

text: Female

text: Hd gene-positive

text: Asymptomatic

text: ND29801 female unaffected Asymptomatic sample


text: Coriell

text: live

text: Generic

text: Ataxia-telangiectasia and rad3-related

text: 6 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Pakistani;at age 9 years he was 106 cm (-4.8 SD) tall with a head circumference of 37 cm (-12 SD). Moderately retarded and first walked at age 7 years;striking microcephaly;receding forehead;micrognathia;prominent nose;crowded teeth;dental malocclusion. Fibroblast cell line derived from the proband showed an impaired response to DNA damage induced by UV radiation but had a normal in response to ionizing radiation. Cells showed a low level of expression of the ATR protein. Cells are hypersensitive to mitomycin C and UV in a survival assay. A mutation at nucleotide 2101A>G causes increased levels of skipping exon 9 and activation of two cryptic splicing events from sites in exon 9 leading to termination in exon 10. Splicing of exon 9 is inefficient in mutant cells;but a small amount of correctly spliced mRNA was observed

text: PAKISTANI

text: ATR

text: Homo sapiens

text: East Indian

text: Male

characteristic: sex

text: Seckel syndrome

text: Ataxia-telangiectasia and rad3-related

text: ATR

text: GM18366 male affected Ataxia-telangiectasia and rad3-related sample

characteristic: title


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 52 YR

text: Fibroblast

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: same subject as ND01618

text: Ashkenazi Jewish

characteristic: family id

text: proband

characteristic: gene

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinson disease

characteristic: tag

text: ND29802 male affected Parkinson disease sample


characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Holoprosencephaly

text: 4 MO

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Semilobar holoprosencephaly;Dandy Walker cyst;hypertelorism

characteristic: description

text: CAUCASIAN/HISPANIC

text: Homo sapiens

text: Other

characteristic: race

text: Female

text: Holoprosencephaly

text: GM18378 female affected Holoprosencephaly sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Tourette syndrome

text: 22 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Tourette syndrome

text: ND29847 female affected Tourette syndrome sample


text: Coriell

text: live

text: Generic

text: Varadi-papp syndrome

text: 11 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;birth weight 3.1 kg at term;birth length 51 cm;birth head circumference 35 cm;polydactyly of all four extremities;midline cleft lip and palate;seizure disorder (abnormal EEG in infancy);hyperbilirubinemia;hamartoma of tongue;sagittal suture synostosis;Duane syndrome;normal echocardiogram;delayed developmental milestones: walked independently at 3 years;toilet trained at 9 years;sentences at 5 years;full scale IQ is 55;decreased hearing in left ear;difficulty chewing due to supernumerary teeth;dolicocephaly;long;narrow face;normal pinna;prominent squared nasal bridge root and nasal tip;synophrys;V-shaped collapsed upper dental arch;enamel defect and crowding of lower jaw;asymmetric palate with deviation of uvula to the right;open-mouth stance;disconjugate gaze and paralysis of lateral gaze;bilateral epicanthal folds;saddle deformity posterior to craniotomy and fibrotic anterior fontanel;left upper extremity: broad thumb with hypoplasia of distal phalanx;4 digits;brachydactyly of 5th digit;status post removal of a digit from between the digits 3 and 4;extra transverse palmar crease and absence of flexion crease on 5th digit;upper right extremity has same findings except there is no supernumerary palmar crease;short;stubby feet;status post removal of pre-axial toes.

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Varadi-papp syndrome

text: GM18379 female affected Varadi-papp syndrome sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 56 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND29848 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 8 WK

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;born at 35 weeks gestation;birth weight 3655 g;holoprosencephaly identified on prenatal ultrasound;head circumference at birth 39.5 cm (>98th percentile);MRI revealed semilobar holoprosencephaly with large extra-axial interhemispheric loculated cysts and agenesis of corpus callosum;normal echocardiogram;macrocephaly at 14 months;bilateral epicanthal folds;exotropia of left eye;hypoplastic ala nasae;capillary hemangioma over forehead;pre-and postaxial polysyndactyly involving all extremities with a total of 27 digits;generalized hypotonia;severe motor delay;normal chromosomes;normal serum cholesterol and 7-dehydrocholesterol.

characteristic: karyotype

text: Homo sapiens

text: Hispanic/Latino

text: Male

text: GM18381 male affected Pseudotrisomy 13 syndrome (holoprosencephaly-polydactyly syndrome) sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Parkinson disease

text: 44 YR

text: Fibroblast

text: NINDS Repository

text: same subject as ND04841

characteristic: description

text: from India

characteristic: ethnicity

text: proband

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Asian

characteristic: race

text: Male

text: Parkinson disease

text: ND29968 male affected Parkinson disease sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Cherubism

text: 12 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;jaw cysts;overgrowth of upper and lower jaw;hypertelorism;round facial form with broad cheeks;slightly longer lower third of face;straight profile;long nasolabial angle;3 mm diastema between the maxillary central incisors;ectopic labial position on the left mandibular incisor;severe spacing in maxillary arch;broad;V-shped mandibular arch;numerous swellings on mandibular arch and severe angulation inclination and rotations over the mandibular incisors;posterior cross bites;severe rotations;and buckle inclination of mandibular teeth;multilocular cystic lesions due to the giant cell lesions in mandible and maxilla;donor subject is heterozygous for a G>C transversion at nucleotide 1519 (1519G>C) in exon 9 of the SH3BP2 gene;resulting in a missense mutation at codon 420 GLY420ARG (G420R) .

text: Homo sapiens

characteristic: organism

text: Hispanic/Latino

text: Male

text: Cherubism

text: Sh3 domain-binding protein 2

text: GM18382 male affected Cherubism sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 61 YR

text: Fibroblast

text: NINDS Repository

characteristic: collection

text: same subject as ND06646

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Parkinson disease

characteristic: tag

text: ND29969 female affected Parkinson disease sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;diagnosed at 33 yr;deceased one week before 40th birthday;other family members with NPC;neonatal jaundice;yellow sclera for three days;MRI showed iron deposits;mild sucal widening;and bilateral frontal hyperperfusion;ataxia;vertical gaze palsy;dysarthria;dysphagia;organic affective disorder;sleep walking;moderate movement difficulty;no verbal communication;constant difficulty swallowing;fibroblasts showed 44 pmol CE/mg protein/6 hr activity in a cholesterol esterification assay normal mean was 1855 +/- 1327 pmol CE/mg protein/6 hr;see Park et al. Hum Mut 22:313-325 (2003);fibroblasts were scored as npc-like in a filipin staining assay (see Park et al.;2003);a complementation test showed that the cells were type 1 (see Park et al.;2003);the donor subject is a compound heterozygote at the NPC1 gene locus: allele 1 carries a substitution (A>T) at nucleotide 2621 (c.2621A>T) in exon 18;resulting in a missense mutation at codon 874 D874V (ASP874VAL);allele 2 carries a substitution (C>G) at nucleotide 2670 (c.2670C>G) in exon 18;resulting in a nonsense mutation at codon 890 Y890X (TYR890TER);the subject also carries the following polymorphisms: (T>C) at nucleotide 387 (387T>C) resulting in a silent mutation (Y>Y) at codon 129 Y129Y;(TYR129TYR);(C>G) at nucleotide 1926 (1926C>G) in exon 12 resulting in a missense mutation (I>M) at codon 642 I642M (ILE642MET);IVS12+8(G)9-14;the first nucleotide of the initiating MET codon is numbered +1.

characteristic: description

text: Homo sapiens

text: Caucasian

text: Female

text: Npc1 gene

text: Niemann-pick disease type c1

text: GM18387 female affected NPC1 sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Huntington disease

text: 65 YR

text: Fibroblast

text: NINDS Repository

text: son

text: HD

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Huntington disease

text: HD

text: ND29970 male affected Huntington disease sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;diagnosed at 3 years 1 month;alive at 11 year;Caucasian;sclera were yellow during neonatal development;hepatosplenomegay at birth;walked at 11.5 mo;clumsy;learning difficulties;ataxia beginning 7 years;walked with assistance at age 11 years;vertical gaze palsy beginning at 6 years;dysarthria beginning at 4 years;cataplexy beginning at 7-8 years;fibroblasts showed 439 pmol CE/mg protein/6 hr activity in a cholesterol esterification assay normal mean was 1855 +/- 1327 pmol CE/mg protein/6 hr;see Park et al. Hum Mut 22:313-325 (2003);fibroblasts were scored as npc-like in a filipin staining assay (see Park et al.;2003);a complementation test showed that the cells were type 1 (see Park et al.;2003);the donor subject is a compound heterozygote at the NPC1 gene locus: allele 1 carries a substitution (G>T) at nucleotide 2018 (c.2018G>T) in exon 13;resulting in a missense mutation at codon 673 G673V (Gly673Val);allele 2 carries a substitution (T>C) at nucleotide 3182 (c.3182T>C) in exon 21;resulting in a missense mutation at codon 1061 I1061T (Ile1061Thr);the subject also carries the following polymorphism in the NPC1 gene: (A>G) at nucleotide 2572 (c.2572A>G) resulting in a missense mutation (I>V) at codon 858 I858V (Ile858Val);the first nucleotide of the initiating Met codon is numbered +1.

text: Homo sapiens

text: Caucasian

text: Male

text: Npc1 gene

text: Niemann-pick disease type c1

text: GM18398 male affected NPC1 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 61 YR

characteristic: age

text: Fibroblast

characteristic: cell type

text: NINDS Repository

text: daughter-in-law

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Hd gene-negative

text: Asymptomatic

text: ND29971 female unaffected Asymptomatic sample


text: Coriell

text: live

text: Generic

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;diagnosed at age 30 mo;deceased at age 10 yr;family history of NPC;born with abnormal swelling of abdomen;jaundice;hepatosplenomegaly at birth;clumsy;vertical gaze palsy;ataxia;dysarthria;cataplexy;dysphagia;gastrostomy;breathing difficulties;asthma;seizures;wheelchair bound;fibroblasts showed 38 pmol CE/mg protein/6 hr activity in a cholesterol esterification assay normal mean was 1855 +/- 1327 pmol CE/mg protein/6 hr;see Park et al. Hum Mut 22:313-325 (2003);fibroblasts were scored as npc-like in a filipin staining assay (see Park et al.;2003);a complementation test showed that the cells were of the type 1 complementation group (see Park et al.;2003);donor subject carries a mutation at the NPC1 gene locus: allele 1 carries a substitution (G>A) at nucleotide 221 (c.221G>A) in exon 3;resulting in a missense mutation at codon 74 Cys74Tyr (C74Y);the mutation in allele 2 has not been identified;the subject also carries the following polymorphisms: C>T at nucleotide 709 (709C>T) in exon 6 which results in a missense mutation (P>S) at codon 237 P237S (Pro237Ser);A>G at nucleotide 644 (644A>G) in exon 5 which results in a missense mutation (H>R) at codon 215 H215R (His215Arg);A>G at nucleotide 2572 (2572A>G) in exon 17 which results in a missense mutation (I>V) at codon 858 I858V (Ile858Val);the first nucleotide of the initiating Met codon is numbered +1.

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Npc1 gene

characteristic: tag

text: Niemann-pick disease type c1

text: GM18415 male affected NPC1 sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Huntington disease

text: 54 YR

text: Fibroblast

text: NINDS Repository

text: same subject as HQ01808

characteristic: family id

text: proband

text: HD

text: Homo sapiens

text: Male

text: Huntington disease

text: HD

text: ND30013 male affected Huntington disease sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;diagnosed at 25 year 1 month;died at 33 year;walked at 14.5 months;clumsy;learning difficulties;ataxia beginning at 14 year;wheel chair bound at time of death;dysarthria beginning at 17 year;dysphagia beginning at 19 year;gastrostomy beginning at age 30 year;respiratory dysfunction beginning at age 31 year;major depression beginning at age 25 year;sleeping problems beginning at age 22 year;fibroblasts showed 29 pmol CE/mg protein/6 hr activity in a cholesterol esterification assay normal mean was 1855 +/- 1327 pmol CE/mg protein/6 hr;see Park et al. Hum Mut 22:313-325 (2003);fibroblasts were scored as npc-like in a filipin staining assay (see Park et al.;2003);a complementation test showed that the cells were type 1 (see Park et al.;2003);the donor subject is homozygous at the NPC1 gene locus: both alleles carry a substitution (T>C) at nucleotide 3182 (c.3182T>C) in exon 21;resulting in a missense mutation at codon 1061 I1061T (Ile1061Thr);the subject also carries the following polymorphism in the NPC1 gene: homozygous substitution (T>C) at nucleotide 387 (c.387T>C) resulting in a silent mutation (Y>Y) at codon 129 Y129Y;(Tyr129Tyr);the first nucleotide of the initiating Met codon is numbered +1

characteristic: description

characteristic: gene

text: Homo sapiens

text: Caucasian

text: Female

text: Npc1 gene

text: Niemann-pick disease type c1

text: GM18417 female affected NPC1 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Fibroblast

text: NINDS Repository

text: wife

text: Homo sapiens

text: Female

text: Hd gene-negative

text: Asymptomatic

text: ND30014 female unaffected Asymptomatic sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 1 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;abdominal distension;diagnosed at 14 months;alive at 7 year;colic at 5 months;mild neonatal jaundice;normal development;hepatosplenomegaly;liver biopsy shows storage in Kupffer cells consistent with NP;clumsy;learning difficulties;ataxia;vertical gaze palsy;dysarthria;cataplexy;dysphagia;gastrostomy;asthma;seizures;sleeping problems;wheelchair bound;absent communication;fibroblasts showed no detectable activity in a cholesterol esterification assay;donor subject is a compound heterozygote at the NPC1 gene locus: allele 1 carries a substitution (A>C) at nucleotide 1836 (c.1836A>C) in exon 10;resulting in a missense mutation at codon 612 Glu612Asp (E612D);allele 2 carries a one base pair deletion at nucleotide 1628 (c.1628delC) in exon 17;results in a frameshift mutation at codon 542 (F542fsX);the subject also carries the following polymorphisms: (A>G) at nucleotide 644 (644A>G) resulting in a missense mutation (H>R) at codon 215 H215R (His215Arg);A>G at nucleotide 2572 (2572A>G) in exon 17 which results in a missense mutation (I>V) at codon 858 I858V (Ile858Val);(C>G) at nucleotide 1926 (1926C>G) in exon 12 resulting in a missense mutation (I>M) at codon 642 I642M (Ile642Met);IVS12+8(G)9-14;(C>T) at nucleotide 2793 (2793C>T) resulting in no change (N>N) at codon 931 N931N (Asn931Asn);(T>C) at nucleotide IVS19+28 (IVS19+28T>C) resulting in no change in the predicted amino acid sequence;the first nucleotide of the initiating Met codon is numbered +1.

text: CANADIAN/ITALIAN

characteristic: ethnicity

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Npc1 gene

text: Niemann-pick disease type c1

text: GM18436 male affected NPC1 sample


text: Coriell

text: live

text: Generic

text: 28 YR

characteristic: age

text: Fibroblast

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: daughter

text: HD

text: Homo sapiens

characteristic: organism

text: Female

characteristic: sex

text: Hd gene-positive

text: Asymptomatic

text: ND30015 female unaffected Asymptomatic sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Pearson marrow-pancreas syndrome

text: 12 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;in infancy presented with macrocytic anemia and neutropenia and became transfusion-dependent for 8 months;short stature;recurrent bacterial and fungal infections;flaky skin;transient alopecia;chronic episodic vomiting;exercise intolerance;staggering gait;language regression;encephalopathy with ataxia and dysphagia;brainstem auditory evoked response was abnormal;suggesting retrocochlear deficit;CT scan revealed bilateral basal ganglia calcifications and extensive white matter changes;ragged red fibers were present on muscle biopsy;a heteroplasmic 4.4 kb deletion (m10560del4400) was observed in muscle;blood;buccal cells;and hair follicles and the proportion of mutant mitochondria was 55%;21%;57%;and 38%;respectively

characteristic: family id

text: proband

text: Homo sapiens

text: Hispanic/Latino

text: Female

text: Pearson marrow-pancreas syndrome

characteristic: tag

text: GM18456 female affected Pearson marrow-pancreas syndrome sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 25 YR

text: Fibroblast

text: NINDS Repository

text: daughter

text: HD

characteristic: gene

text: Homo sapiens

text: Female

text: Hd gene-positive

text: Asymptomatic

text: ND30016 female unaffected Asymptomatic sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 28 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;negative control for facioscapularhumeral muscular dystrophy;type 1A (FSHMD1A;FSHMD;FSHD;OMIM 158900);the number of the polymorphic macrosatellite repeats (D4Z4) in the subtelomeric region of 4q35 and at chromosome 10q26 were determined;the D4Z4 repeat number on chromosome 4q35 is predictive for FSHD;submitter s repeat analyses were not performed on this culture;but on a separate peripheral blood specimen from this same donor: D4Z4 repeats for this donor subject are as follows: 4q35: 13/18 copies (clinically unaffected individuals usually have >10 D4Z4 repeats on both alleles at chromosome 4q35) and 10q26: 13/20 copies

characteristic: description

text: Homo sapiens

text: Asian

text: Male

text: Apparently healthy non-fetal tissue

text: GM18473 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

text: Generic

text: Epilepsy

text: 8 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Epilepsy

text: ND30020 female affected Epilepsy sample


text: Coriell

text: live

text: Generic

text: 24 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically normal;negative control for facioscapularhumeral muscular dystrophy;type 1A (FSHMD1A;FSHMD;FSHD;OMIM 158900);the number of the polymorphic macrosatellite repeats (D4Z4) in the subtelomeric region of 4q35 and at chromosome 10q26 were determined;the D4Z4 repeat number on chromosome 4q35 is predictive for FSHD;submitter s repeat analyses were not performed on this culture;but on a separate peripheral blood specimen from this same donor: D4Z4 repeats for this donor subject are as follows: 4q35: 34/39 copies (clinically unaffected individuals usually have >10 D4Z4 repeats on both alleles at chromosome 4q35) and 10q26: 35/37 copies

text: Homo sapiens

characteristic: organism

text: Black

text: Female

characteristic: sex

text: Apparently healthy non-fetal tissue

text: GM18474 female unaffected Apparently healthy non-fetal tissue sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 30 YR

text: B-Lymphocyte

text: NINDS Repository

text: Homo sapiens

text: Caucasian

text: Female

text: ND30021 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 32 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;negative control for facioscapularhumeral muscular dystrophy;type 1A (FSHMD1A;FSHMD;FSHD;OMIM 158900);the number of the polymorphic macrosatellite repeats (D4Z4) in the subtelomeric region of 4q35 and at chromosome 10q26 were determined;the D4Z4 repeat number on chromosome 4q35 is predictive for FSHD;submitter s repeat analyses were not performed on this culture;but on a separate peripheral blood specimen from this same donor: D4Z4 repeats for this donor subject are as follows: 4q35: 11/19 copies (clinically unaffected individuals usually have >10 D4Z4 repeats on both alleles at chromosome 4q35) and 10q26: 16/36 copies

text: Homo sapiens

text: Hispanic/Latino

text: Female

text: Apparently healthy non-fetal tissue

characteristic: tag

text: GM18475 female unaffected Apparently healthy non-fetal tissue sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 34 YR

text: B-Lymphocyte

text: NINDS Repository

text: Homo sapiens

text: Caucasian

text: Male

text: ND30022 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 58 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;negative control for facioscapularhumeral muscular dystrophy;type 1A (FSHMD1A;FSHMD;FSHD;OMIM 158900);the number of the polymorphic macrosatellite repeats (D4Z4) in the subtelomeric region of 4q35 and at chromosome 10q26 were determined;the D4Z4 repeat number on chromosome 4q35 is predictive for FSHD;submitter s repeat analyses were not performed on this culture;but on a separate peripheral blood specimen from this same donor: D4Z4 repeats for this donor subject are as follows: 4q35: 25/34 copies (clinically unaffected individuals usually have >10 D4Z4 repeats on both alleles at chromosome 4q35) and 10q26: 8.6/12 copies

text: Homo sapiens

text: Caucasian

text: Female

text: Apparently healthy non-fetal tissue

text: GM18476 female unaffected Apparently healthy non-fetal tissue sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 23 YR

text: Fibroblast

text: NINDS Repository

characteristic: family id

text: granddaughter

text: HD

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Hd gene-positive

text: Asymptomatic

text: ND30047 female unaffected Asymptomatic sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 32 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;negative control for facioscapularhumeral muscular dystrophy;type 1A (FSHMD1A;FSHMD;FSHD;OMIM 158900);the number of the polymorphic macrosatellite repeats (D4Z4) in the subtelomeric region of 4q35 and at chromosome 10q26 were determined;the D4Z4 repeat number on chromosome 4q35 is predictive for FSHD;submitter s repeat analyses were not performed on this culture;but on a separate peripheral blood specimen from this same donor: D4Z4 repeats for this donor subject are as follows: 4q35: 31/89 copies (clinically unaffected individuals usually have >10 D4Z4 repeats on both alleles at chromosome 4q35) and 10q26: 11/39 copies

characteristic: description

text: Homo sapiens

text: Asian

text: Female

text: Apparently healthy non-fetal tissue

text: GM18477 female unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

text: Generic

text: Epilepsy

text: 10 MO

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Epilepsy

text: ND30075 male affected Epilepsy sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 24 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;mixed race: Caucasian;black;and Native American;negative control for facioscapularhumeral muscular dystrophy;type 1A (FSHMD1A;FSHMD;FSHD;OMIM 158900);the number of the polymorphic macrosatellite repeats (D4Z4) in the subtelomeric region of 4q35 and at chromosome 10q26 were determined;the D4Z4 repeat number on chromosome 4q35 is predictive for FSHD;submitter s repeat analyses were not performed on this culture;but on a separate peripheral blood specimen from this same donor: D4Z4 repeats for this donor subject are as follows: 4q35: 27/27 copies (clinically unaffected individuals usually have >10 D4Z4 repeats on both alleles at chromosome 4q35) and 10q26: 6/10 copies

text: Homo sapiens

text: Other

text: Female

characteristic: sex

text: Apparently healthy non-fetal tissue

characteristic: tag

text: GM18478 female unaffected Apparently healthy non-fetal tissue sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Epilepsy

text: 15 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

text: ND30076 female affected Epilepsy sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Mother of an affected daughter (GM18456)

characteristic: family id

text: mother

text: Homo sapiens

text: Hispanic/Latino

text: Female

text: Pearson marrow-pancreas syndrome

text: GM18479 female unaffected Pearson marrow-pancreas syndrome sample


text: Coriell

text: live

text: Generic

text: 43 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND30078 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: Moebius syndrome 1

text: 10 MO

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Bilateral facial nerve paralysis;bilateral abducens nerve paralysis;arthrogryposis;developmental delays

characteristic: description

text: Homo sapiens

text: Hispanic/Latino

text: Male

text: Moebius syndrome 1

text: GM18481 male affected Moebius syndrome 1 sample


text: Coriell

text: live

text: Generic

text: Epilepsy

text: 23 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Epilepsy

text: ND30110 male affected Epilepsy sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: HCH

text: 2 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Rhizomelic short stature;developmental delays;seizure disorder;donor subject has a C>A transversion at nucleotide 1620 in exon 13 of the FGFR3 gene;resulting in an asn540-to-lys Asn540Lys (N540K) substitution in the proximal tyrosine kinase domain of the protein

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Hispanic/Latino

text: Male

text: Hypochondroplasia

text: HCH

text: Fibroblast growth factor receptor 3

text: GM18666 male affected HCH sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Epilepsy

text: 52 YR

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Epilepsy

characteristic: tag

text: ND30111 male affected Epilepsy sample


characteristic: DNA id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: CF

text: 14 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Czechoslovakian;clinically affected;donor subject is a compound heterozygote: one allele carries a large genomic deletion of the CFTR gene which deletes 21;080 bp spanning from intron 1 to intron 3 resulting in the loss of exons 2 and 3 in epithelial CFTR mRNA;thereby producing a premature termination signal within exon 4;the second allele carries a 3 bp deletion in exon 10 resulting in the deletion of phenylalanine at codon 508 Phe508Del (delta F508;F508del) .

text: CZECH

characteristic: ethnicity

text: CFTR

text: 21-KB DEL

text: Homo sapiens

text: Caucasian

text: Male

text: CF

text: Cystic fibrosis

text: Cystic fibrosis transmembrane conductance regulator

text: CFTR

text: GM18668 male affected CF sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 51 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND30112 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: CF

text: 31 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Czechoslovakian;clinically affected;donor subject is a compound heterozygote: one allele carries a 1 bp deletion at nucleotide 2184 in exon 13 of the CFTR gene (2184delA);resulting in a frameshift and premature termination;the second allele carries a 3 bp deletion in exon 10 resulting in the deletion of phenylalanine at codon 508 Phe508Del (delta F508;F508del);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

characteristic: description

text: CZECH

text: CFTR

characteristic: gene

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

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

text: CF

text: Cystic fibrosis

text: CFTR

text: GM18799 female affected CF sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Parkinson disease

text: Fibroblast

text: NINDS Repository

text: same subject as ND01369

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Parkinson disease

characteristic: tag

text: ND30116 female affected Parkinson disease sample


characteristic: DNA id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: CF

text: 25 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Czechoslovakian;clinically affected;donor subject is a compound heterozygote: one allele carries G-to-A substitution at nucleotide 1898+1 (1898+1G>A) in intron 12 of the CFTR gene which results an mRNA splicing defect;the second allele carries a 3 bp deletion in exon 10 resulting in the deletion of phenylalanine at codon 508 Phe508Del (delta F508;F508del);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: CZECH

characteristic: ethnicity

text: CFTR

characteristic: mutation

text: 1898+1 G>A

text: Homo sapiens

text: Caucasian

text: Female

text: CF

text: Cystic fibrosis

text: CFTR

text: GM18800 female affected CF sample


text: Coriell

text: live

text: Generic

text: 35 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND30118 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: CF

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Czechoslovakian;clinically affected with classical form of cystic fibrosis;the donor subject is heterozygous: one allele carries an A-to-G substitution at nucleotide 3272-26 (3272-26A>G) in intron 17a which may result in an mRNA splicing defect;no mutation was identified in the second allele;analysis of a DNA variant in a noncoding region of the CFTR gene (polypyrimidine tract in intron 8) showed this donor has alleles 7T/7T

characteristic: description

text: CZECH

text: CFTR

characteristic: gene

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: CF

text: Cystic fibrosis

text: CFTR

text: GM18801 male affected CF sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 34 YR

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

characteristic: tag

text: ND30119 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: CF

text: 8 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Czechoslovakian;clinically affected with classical form of cystic fibrosis;the donor subject is heterozygous: one allele carries an T-to-A substitution at nucleotide 498 (T498A) in exon 4 of the CFTR gene;resulting in a nonsense mutation in codon 122 TYR122TER (Y122X);no mutation was identified in the second allele;analysis of a DNA variant in a noncoding region of the CFTR gene (polypyrimidine tract in intron 8) showed this donor has alleles 7T/7T

text: CZECH

characteristic: ethnicity

text: CFTR

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: CF

text: Cystic fibrosis

text: CFTR

text: GM18802 male affected CF sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Parkinson disease

text: 76 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: same subject as ND30159

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Parkinson disease

text: ND30158 female affected Parkinson disease sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: CF

text: 22 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Czechoslovakian;clinically affected;donor subject is a compound heterozygote: one allele carries an A to G substitution at nucleotide 2183 and deletion of A at 2184 (2183AA>G) in exon 13 of the CFTR gene;resulting in a frameshift;the second allele carries a 3 bp deletion in exon 10 resulting in the deletion of phenylalanine at codon 508 Phe508Del (delta F508;F508del);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

characteristic: description

text: CZECH

text: CFTR

characteristic: gene

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: CF

text: Cystic fibrosis

text: CFTR

text: GM18803 female affected CF sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Parkinson disease

text: 76 YR

text: Fibroblast

text: NINDS Repository

text: same subject as ND30158

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Parkinson disease

characteristic: tag

text: ND30159 female affected Parkinson disease sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 10 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: De novo translocation;severly developmentally delayed with autistic tendencies;some regression of milestones;nondysmorphic;normal gross and fine motor skills;disruptive behavioral problems;sleep disturbance;self-injurious behavior;agitation and tantrums;peripheral nervous system dysfunction;enuresis;dysthymia

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Translocated chromosome

text: GM18825 female unaffected Translocated chromosome sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 54 YR

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: same subject as ND06284

characteristic: family id

text: proband

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinson disease

text: ND30171 male affected Parkinson disease sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 2 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: De novo translocation;multiple congenital anomalies;failure to thrive;feeding problems;growth retardation;weight loss;craniofacial dysmorphism: brachycephaly;flat midface;pointed chin;broad and prominent forehead;deeply set eyes;and small mouth;abdominal pain and reflux;kidney stones;contractures and spasticity of ankles;knees;hips;elbows;and shoulders;seizures;severe developmental delay;very poor eye contact/interaction;self-stimulating episodes;episodic agitation;muscle biopsy revealed partial mitochondrial complex III deficiency;presently fed by gastric tube;takes carnitine

characteristic: description

text: 46;X;t(X;5)(Xpter>Xq24::5q13>5qter;5pter>5q13::Xq24>Xqter).ish t(X;5)(wcpX+;wcp5+;wcp5+;wcpX+)

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Translocated chromosome

text: GM18826 female unaffected Translocated chromosome sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Parkinson disease

text: 73 YR

text: Fibroblast

text: NINDS Repository

text: same subject as ND30290

text: proband

characteristic: gene

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Parkinson disease

characteristic: tag

text: ND30244 male affected Parkinson disease sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 1 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: De novo translocation;global developmental delay;hypotonia;spasmus nutans;poor suck;slow to gain weight;right index finger permanently bent at top joint;unable to flex finger properly;not walking;inverted nipples;weak on right side;petit mouth;tiny feet;broad nose;low brow

text: 46;XX;t(15;16)(15pter>15q24.1::16q24>16qter;16pter>16q24::15q24.1>15qter).ish t(15;16)(D15S936-;16qte148+;D15S936+;16qte148-)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Translocated chromosome

text: GM18827 female unaffected Translocated chromosome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Epilepsy

text: 19 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy

text: ND30251 male affected Epilepsy sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 32 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Multiple congenital anomalies;hyperpigmentation of breast area;acanthosis of axillae bilaterally;left testicle larger than right;developmental delay;central nervous system dysfunction;deep set eyes;long large ears;anteverted nares;tapered fingers;gynecomastia;obesity;absent teeth and severe tooth decay

characteristic: description

text: 46;Y;inv(X)(pter>q27::q28>q27::q28>qter).ish inv(X)(wcpX+)

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Translocated chromosome

text: GM18828 male unaffected Translocated chromosome sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Epilepsy

text: 53 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Epilepsy

characteristic: tag

text: ND30252 female affected Epilepsy sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: CF

text: 18 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Czechoslovakian;clinically affected;donor subject is a compound heterozygote: one allele carries deletion of T at nucleotide 2143 (2143delT) in exon 13 of the CFTR gene;resulting in a frameshift;the second allele carries a 3 bp deletion in exon 10 resulting in the deletion of phenylalanine at codon 508 Phe508Del (delta F508;F508del);analysis of a DNA variant in a noncoding region of the CFTR gene (polypyrimidine tract in intron 8) showed this donor has alleles 9T/9T

text: CZECH

characteristic: ethnicity

text: CFTR

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: CF

text: Cystic fibrosis

text: Cystic fibrosis transmembrane conductance regulator

text: CFTR

text: GM18886 male affected CF sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Epilepsy

text: 20 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

characteristic: family id

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

text: ND30253 female affected Epilepsy sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 49 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Ashkenazi;clinically normal carrier;donor subject is heterozygous for a C>A transversion at nucleotide 693 in exon 5 of the ASPA gene 693C>A resulting in a substitution of a termination signal for tyrosine at codon 231 Tyr231Ter (Y231X) .

characteristic: description

text: ASHKENAZI

text: ASPA

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Canavan disease

text: Aspartoacylase

text: ASPA

text: GM18929 male unaffected Aspartoacylase sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Huntington disease

text: 74 YR

text: Fibroblast

text: NINDS Repository

text: proband

text: HD

text: Homo sapiens

text: Female

characteristic: sex

text: Huntington disease

characteristic: tag

text: HD

text: ND30259 female affected Huntington disease sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 38 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;multiple periarticular and subcutaneous calcified masses (right hip;shoulder;thigh;pipliteal fossa;and right and left scapula);3 years of age at presentation;primary lesion on left hip;unusual lesion sites were in abdominal wall;labia majors and perineum;treated with low protein diet;case #5 in Am J Surg Pathol 17(8):788-802;1993

text: sister

text: Homo sapiens

text: African American

text: Female

text: GM19014 female affected Calcinosis, tumoral, with hyperphosphatemia sample


text: Coriell

text: live

text: Generic

text: Asymptomatic

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NINDS Repository

text: daughter

text: HD

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Female

text: Hd gene-positive

text: Asymptomatic

text: ND30260 female affected Asymptomatic sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 46 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;multiple periarticular and subcutaneous calcified masses (right foot sole;right 4th toe;both hips;both elbows;both shoulders;both axiliae;right chest and neck);3 years of age at presentation;primary lesions on sole of left foot and elbow;unusual lesion site was right neck lesion debulking causing torticolis and extending into hypopharynx up to soft palate causing dysphagia and airway compression;treated with low protein and calcium diet;case #3 in Am J Surg Pathol 17(8):788-802;1993

characteristic: family id

text: proband

text: Homo sapiens

text: African American

text: Male

text: GM19015 male affected Calcinosis, tumoral, with hyperphosphatemia sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 65 YR

text: B-Lymphocyte

text: NINDS Repository

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Population/convenience control

text: ND30340 male unaffected Population/convenience control sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: 40 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;multiple periarticular and subcutaneous calcified masses (left hip;right shoulder;and left scapula and wrist);4 years of age at presentation;primary lesions on left and right elbow;treated with low protein and calcium diet;case #4 in Am J Surg Pathol 17(8):788-802;1993

characteristic: description

text: brother

text: Homo sapiens

text: African American

characteristic: race

text: Male

text: GM19016 male affected Calcinosis, tumoral, with hyperphosphatemia sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 42 YR

text: B-Lymphocyte

text: NINDS Repository

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

characteristic: tag

text: ND30341 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 9 MO

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Scoliosis;cleft palate;sex reversal

text: 46;X;t(Y;17)(Ypter>Yq12::17q23>17qter;17pter>17q23::Yq12>Yqter).ish t(Y;17)(SRY+;D17S928+;D17S928-)

characteristic: karyotype

text: Homo sapiens

text: East Indian

text: Female

text: Translocated chromosome

text: GM19155 female unaffected Translocated chromosome sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 62 YR

text: Fibroblast

text: NINDS Repository

characteristic: collection

characteristic: family id

text: proband

text: HD

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Male

text: Hd gene-positive

text: Asymptomatic

text: ND30422 male unaffected Asymptomatic sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Hashimoto thyroiditis

text: 35 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;patches of depigmented skin and overlying hair in distribution typical of generalized vitiligo;progressive waxing and waning;vitiligo-associated autoimmune disease (Hashimoto's thyroiditis);decreased serum free thyroxin (FT4);elevated serum thyrotropin (TSH) and serum anti-thyroid peroxidase (TPO) antibodies;affected sister is GM19292

text: sister

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Vitiligo

text: Hashimoto thyroiditis

text: GM19291 female affected Hashimoto thyroiditis sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 36 YR

text: B-Lymphocyte

text: NINDS Repository

text: same subject as ND32950

characteristic: description

text: son

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: ND30623 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: Hashimoto thyroiditis

text: 38 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;patches of depigmented skin and overlying hair in distribution typical of generalized vitiligo;progressive waxing and waning;vitiligo-associated autoimmune disease (Hashimoto's thyroiditis);decreased serum free thyroxin (FT4);elevated serum thyrotropin (TSH) and serum anti-thyroid peroxidase (TPO) antibodies;affected sister is GM19291

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Vitiligo

characteristic: tag

text: Hashimoto thyroiditis

text: GM19292 female affected Hashimoto thyroiditis sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 76 YR

text: Fibroblast

text: NINDS Repository

characteristic: collection

characteristic: family id

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Hd gene-negative

text: Asymptomatic

text: ND30625 male unaffected Asymptomatic sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: 2 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: De novo translocation;hypotonic cerebral palsy;developmental delay;behavioral problems;central nervous system dysfunction;peripheral nervous system dysfunction;seizures;wide-based gait;orthopedic abnormality (knock-kneed with toe walking);normal Angelman syndrome loci by FISH analysis;currently on Depakane;inappropriate laughter;absent speech

text: 46;XX;t(1;5)(1qter>1p22::5q13>5qter;5pter>5q13::1p22>1pter)

characteristic: karyotype

text: Homo sapiens

text: African American

text: Female

text: Translocated chromosome

text: GM19344 female unaffected Translocated chromosome sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Huntington disease

text: 62 YR

text: Fibroblast

text: NINDS Repository

text: same subject as HQ01462

text: proband

text: HD

characteristic: gene

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Huntington disease

text: HD

text: ND30626 male affected Huntington disease sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 17 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Mother has de novo translocation;mild language and motor delay;dyslexia;attention deficit disorder;major depression;sleep disturbance;at age 11 years IQ was 62;slight malar hypoplasia;

characteristic: description

text: 46;XX;t(5;7)(5pter>5q12.2::7q21.2>7qter;7pter>7q21.2::5q12.2>5qter)mat

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Translocated chromosome

text: GM19345 female unaffected Translocated chromosome sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 37 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

characteristic: tag

text: ND30727 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample