text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: 65 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse of ND02297

text: spouse

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Population/convenience control

text: ND02296 female unaffected Neurologically normal caucasian control panel sample


status: PUBLIC

characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 33 YR

tag: attribute

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically normal mother of two affected children (GM22123 and GM22124)

characteristic: description

characteristic: family id

text: mother

text: Homo sapiens

characteristic: organism

text: Filipino

characteristic: race

text: Female

text: Propionic acidemia

characteristic: tag

text: GM22126 female unaffected Propionic acidemia sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: PD

text: 59 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse is ND02296

text: proband

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Late onset parkinsons dna panel: affected individuals

text: Parkinsons panel: caucasian from the united states

text: PD

text: Parkinson disease

text: ND02297 male affected PD sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: TAZ

text: 16 MO

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;two affected deceased uncles and two affected cousins (one deceased at 10 days of age);cholesterol at >1 year of age was 97 mg/dl;3-methylglutaconate in plasma is 3218 nmol/l;onset of dilated cardiomyopathy at age 4 months;donor subject is hemizygous for a T>C change in exon 8 of the TAZ (G4.5) gene (c.635T>C) resulting in the substitution of proline for leucine at codon 212 Leu212Pro (L212P)

text: MEXICAN

characteristic: ethnicity

text: TAZ

text: Homo sapiens

text: Hispanic/Latino

text: Male

characteristic: sex

text: Tafazzin

text: BTHS

text: Barth syndrome

text: TAZ

text: GM22128 male affected TAZ sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Parkinson disease

text: 85 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse is ND02299

text: proband

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: ND02298 male affected Parkinson disease sample


text: Coriell

text: live

text: Generic

text: TAZ

text: 11 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;no family history;onset of dilated cardiomyopathy at birth;neutropenia;growth retardation;skeletal muscle weakness;several infections;cholesterol at >1 year of age was 95 mg/dl (LDL 41);normal carnitine;3-methylglutaconate in plasma is 2594 nmol/l and in urine is 106;muscle biopsy showed abnormal mitochondria;donor subject is hemizygous for a donor splice site mutation in the TAZ (G4.5) gene: IVS1+5G>A

characteristic: description

text: ITALIAN/IRISH/ENGLISH

text: TAZ

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Tafazzin

text: BTHS

text: Barth syndrome

text: TAZ

text: GM22129 male affected TAZ sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: 81 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse of ND02298

characteristic: family id

text: spouse

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

text: Female

text: Control

characteristic: tag

text: Population/convenience control

text: Neurologically normal caucasian control panel

text: ND02299 female unaffected Control sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: TAZ

text: 13 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;two deceased affected brothers;dilated cardiomyopathy with cardiac transplant at age 4 months;3-methyglutaconic aciduria;growth retardation;donor subject is hemizygous for a C>G change in exon 2 of the TAZ (G4.5) gene (c.207C>G) resulting in the substitution of glutamine for histidine at codon 69 His69Gln (H69Q)

text: EASTERN EUROPEAN

text: TAZ

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Tafazzin

text: BTHS

text: Barth syndrome

text: TAZ

text: GM22130 male affected TAZ sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Intracranial aneurysm - unruptured

text: 72 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Intracranial aneurysm - unruptured

text: ND02300 female affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

text: Generic

text: 1 DA

characteristic: cell line

text: Melanocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Foreskin melanocyte cell culture;this culture tested 90% positive for melanocyte cell-specific gp100 (immunocytochemistry assay);another culture from this same donor is GM22133 (fibroblast)

characteristic: description

text: proband

characteristic: karyotype

text: Homo sapiens

text: Hispanic/Latino

text: Male

text: Apparently healthy non-fetal tissue

text: Multiple cell types from same subject - foreskin

text: GM22131 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 65 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Intracranial aneurysm unruptured: caucasian

text: Intracranial aneurysm - unruptured

text: ND02306 female affected Intracranial aneurysm - unruptured sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: 1 DA

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Foreskin fibroblast cell culture;another culture from this same donor is GM22131 (melanocyte)

text: proband

text: Homo sapiens

text: Hispanic/Latino

text: Male

text: Apparently healthy non-fetal tissue

characteristic: tag

text: GM22133 male unaffected Apparently healthy non-fetal tissue sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Parkinson disease

text: 70 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse is ND02319

text: proband

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinsons panel: caucasian from the united states

text: PD

text: Parkinson disease

text: ND02318 male affected Parkinson disease sample


text: Coriell

text: live

text: Generic

text: 1 DA

characteristic: cell line

text: Melanocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Foreskin melanocyte cell culture;this culture tested 99% positive for melanocyte cell-specific gp100 (immunocytochemistry assay);other cultures from this same donor are GM22136 (fibroblast) and GM22135 (keratinocyte)

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Apparently healthy non-fetal tissue

text: GM22134 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: 73 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene.

characteristic: family id

text: spouse

text: WILDTYPE for GLY2019

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND02319 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: 1 DA

text: Keratinocyte

text: NIGMS Human Genetic Cell Repository

text: Foreskin keratinocyte cell culture;this culture tested 95% positive for keratinocyte cell-specific cytokeratin (immunocytochemistry assay);other cultures from this same donor are GM22136 (fibroblast) and GM22134 (melanocyte)

text: proband

characteristic: karyotype

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Apparently healthy non-fetal tissue

text: GM22135 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Parkinson disease

text: 80 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse is ND02321

text: proband

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: PD

text: Parkinson disease

text: ND02320 male affected Parkinson disease sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 1 DA

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Foreskin fibroblast cell culture;other cultures from this same donor are GM22134 (melanocyte) and GM22135 (keratinocyte)

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Apparently healthy non-fetal tissue

text: Multiple cell types from same subject - foreskin

text: GM22136 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 76 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse of ND02320

characteristic: description

text: spouse

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: ND02321 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 1 DA

text: Melanocyte

text: NIGMS Human Genetic Cell Repository

text: Foreskin melanocyte cell culture;this culture tested 99% positive for melanocyte cell-specific gp100 (immunocytochemistry assay);another culture from this same donor is GM22143 (fibroblast)

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Apparently healthy non-fetal tissue

text: GM22141 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Parkinson disease

text: 61 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse is ND02323

text: proband

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: PD

text: Parkinson disease

text: ND02322 female affected Parkinson disease sample


text: Coriell

text: live

text: Generic

text: 1 DA

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Foreskin fibroblast cell culture);another culture from this same donor is GM22141 (melanocyte)

text: proband

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Apparently healthy non-fetal tissue

characteristic: tag

text: GM22143 male unaffected Apparently healthy non-fetal tissue sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 72 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: paternal uncle

text: Homo sapiens

text: Caucasian

text: Male

text: ND02338 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: TAZ

text: 11 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;maternal aunt and mother are carriers;two paternal cousins with Li-Fraumeni syndrome;perinatal hypoglycemia;dilated cardiomyopathy;neutropenia;growth retardation;weight to height ratio at birth 2.8;skeletal muscle weakness;3-methylglutaconate in plasma is 847 nmol/l;donor subject is hemizygous for a 1 bp deletion (c.124delC) in exon 2 of the TAZ (G4.5) gene resulting in a frameshift and stop codon Leu42Ter (L42X)

characteristic: description

text: IRISH/ENGLISH/IRISH/GERMAN/SCOTTISH/MEXICAN/NATIVE

characteristic: ethnicity

text: TAZ

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Tafazzin

text: BTHS

text: Barth syndrome

text: TAZ

text: GM22148 male affected TAZ sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Intracranial aneurysm - unruptured

text: 35 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: daughter

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND02339 female affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: TAZ

text: 7 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;two affected maternal cousins (one deceased at 5 days of age);dilated cardiomyopathy;neutropenia;growth retardation;skeletal muscle weakness;3-methylglutaconic aciduria;donor subject is hemizygous for a G>A change in exon 2 of the TAZ (G4.5) gene (c.236G>A) resulting in a stop codon Trp79Ter (W79X)

text: TAZ

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Tafazzin

characteristic: tag

text: BTHS

text: Barth syndrome

text: TAZ

text: GM22150 male affected TAZ sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 70 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: ND02370 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 1 DA

text: Melanocyte

text: NIGMS Human Genetic Cell Repository

text: Foreskin melanocyte cell culture;this culture tested 99% positive for melanocyte cell-specific gp100 (immunocytochemistry assay);another culture from this same donor is GM22159 (fibroblast)

characteristic: description

text: proband

characteristic: karyotype

text: Homo sapiens

text: Asian

text: Male

characteristic: sex

text: Apparently healthy non-fetal tissue

text: GM22157 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Intracranial aneurysm - unruptured

text: 62 YR

text: B-Lymphocyte

text: NINDS Repository

text: niece

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND02376 female affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 1 DA

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Foreskin fibroblast cell culture;another culture from this same donor is GM22157 (melanocyte)

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Asian

text: Male

text: Apparently healthy non-fetal tissue

text: Multiple cell types from same subject - foreskin

text: GM22159 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Pallidopontonigral degeneration

text: 42 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: MAPT

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Pallidopontonigral degeneration

text: ND02380 female affected Pallidopontonigral degeneration sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: TAZ

text: 7 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;affected half-brother died at age 7 months;carrier half-sister with a deceased affected son;at birth: weight to height ratio was 2.8/49;multiple infections;cholesterol at >1 year of age was 40 mg/dl;onset of dilated cardiomyopathy at birth;carnitine levels at 40/46 (free/total);3-methylglutaconate in plasma is 496 nmol/l;donor subject is hemizygous for a C>T change in exon 9 of the TAZ (G4.5) gene c.697C>T resulting in a stop at codon 233 Gln233Ter (Q233X);

text: AFRICAN-AMERICAN

characteristic: ethnicity

text: proband

text: TAZ

text: Homo sapiens

text: Black

characteristic: race

text: Male

text: Tafazzin

characteristic: tag

text: BTHS

text: Barth syndrome

text: TAZ

text: GM22164 male affected TAZ sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 44 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected spouse of ND02380

characteristic: description

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Population/convenience control

text: ND02381 male unaffected Control panel for young onset parkinsons: unaffected individuals sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 1 DA

text: Melanocyte

text: NIGMS Human Genetic Cell Repository

text: Foreskin melanocyte cell culture;this culture tested 95% positive for melanocyte cell-specific gp100 (immunocytochemistry assay);another culture from this same donor is GM22168 (fibroblast)

text: AFRICAN-AMERICAN

characteristic: family id

text: proband

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Black

text: Male

text: Apparently healthy non-fetal tissue

text: GM22167 male unaffected Apparently healthy non-fetal tissue sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Epilepsy

text: 41 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected sister is ND02384

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

text: Epilepsy, focal: caucasian

text: ND02383 female affected Epilepsy sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 1 DA

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Foreskin fibroblast cell culture;another culture from this same donor is GM22167 (melanocyte)

text: AFRICAN-AMERICAN

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Black

characteristic: race

text: Male

text: Apparently healthy non-fetal tissue

text: GM22168 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 40 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected sister of ND02383

characteristic: description

text: sister

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND02384 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 1 DA

text: Melanocyte

text: NIGMS Human Genetic Cell Repository

text: Foreskin melanocyte cell culture;this culture tested 97% positive for melanocyte cell-specific gp100 (immunocytochemistry assay);another culture from this same donor is GM22171 (fibroblast)

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Apparently healthy non-fetal tissue

text: GM22170 male unaffected Apparently healthy non-fetal tissue sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 69 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND02393 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 1 DA

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Foreskin fibroblast cell culture;another culture from this same donor is GM22170 (melanocyte)

text: proband

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Apparently healthy non-fetal tissue

text: GM22171 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 37 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: ND02394 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 1 DA

text: Melanocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Foreskin melanocyte cell culture;this culture tested 95% positive for melanocyte cell-specific gp100 (immunocytochemistry assay);another culture from this same donor is GM22183 (fibroblast)

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Apparently healthy non-fetal tissue

text: GM22182 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Epilepsy

text: 12 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother is ND02397;unaffected father is ND02398

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy generalized: caucasian

characteristic: tag

text: Epilepsy

text: ND02396 female affected Epilepsy sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 1 DA

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Foreskin fibroblast cell culture;another culture from this same donor is GM22182 (melanocyte)

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Apparently healthy non-fetal tissue

text: Multiple cell types from same subject - foreskin

text: GM22183 male unaffected Apparently healthy non-fetal tissue sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 43 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother of ND02396;spouse of ND02398

characteristic: family id

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND02397 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 1 DA

characteristic: age

text: Keratinocyte

text: NIGMS Human Genetic Cell Repository

text: Foreskin keratinocyte cell culture;this culture tested 99% positive for keratinocyte cell-specific cytokeratin (immunocytochemistry assay);another culture from this same donor is GM22186 (fibroblast)

text: proband

text: Homo sapiens

text: Hispanic/Latino

text: Male

text: Apparently healthy non-fetal tissue

text: GM22185 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 46 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected father of ND02396;spouse of ND02397

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND02398 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 1 DA

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Foreskin fibroblast cell culture;another culture from this same donor is GM22185 (keratinocyte)

text: proband

characteristic: karyotype

text: Homo sapiens

text: Hispanic/Latino

text: Male

text: Apparently healthy non-fetal tissue

text: GM22186 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Intracranial rupture-status undefined

text: 44 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Intracranial rupture-status undefined

text: ND02409 male affected Intracranial rupture-status undefined sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 1 DA

text: Melanocyte

text: NIGMS Human Genetic Cell Repository

text: Foreskin melanocyte cell culture;this culture tested 90% positive for melanocyte cell-specific gp100 (immunocytochemistry assay);another culture from this same donor is GM22191 (fibroblast)

characteristic: description

text: AFRICAN-AMERICAN

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Black

text: Male

text: Apparently healthy non-fetal tissue

characteristic: tag

text: GM22189 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 74 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: ND02410 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 1 DA

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Foreskin fibroblast cell culture;another culture from this same donor is GM22189 (melanocyte)

text: AFRICAN-AMERICAN

text: proband

text: Homo sapiens

characteristic: organism

text: Black

text: Male

text: Apparently healthy non-fetal tissue

text: GM22191 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Epilepsy

text: 17 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected mother is ND02417;affected father is ND02418;affected brother is ND02416

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy generalized: caucasian

text: Epilepsy

text: ND02415 female affected Epilepsy sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 1 DA

text: Melanocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Foreskin melanocyte cell culture;this culture tested 90% positive for melanocyte cell-specific gp100 (immunocytochemistry assay);other cultures from this same donor are GM22202 (fibroblast) and GM22201 (keratinocyte)

text: proband

characteristic: karyotype

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Apparently healthy non-fetal tissue

text: Multiple cell types from same subject - foreskin

text: GM22200 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Epilepsy

text: 18 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother is ND02417;affected father is ND02418;affected sister is ND02415

characteristic: description

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy

characteristic: tag

text: ND02416 male affected Epilepsy sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 1 DA

text: Keratinocyte

text: NIGMS Human Genetic Cell Repository

text: Foreskin keratinocyte cell culture;this culture tested 99% positive for keratinocyte cell-specific cytokeratin (immunocytochemistry assay);other cultures from this same donor are GM22202 (fibroblast) and GM22200 (melanocyte)

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Apparently healthy non-fetal tissue

text: GM22201 male unaffected Apparently healthy non-fetal tissue sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 42 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother of two affected children a daughter (ND02415) and a son (ND02416);unaffected spouse of ND02418

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND02417 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 1 DA

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Foreskin fibroblast cell culture;other cultures from this same donor are GM22200 (melanocyte) and GM22201 (keratinocyte)

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Apparently healthy non-fetal tissue

text: GM22202 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Epilepsy

text: 40 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Affected father of two affected children a daughter (ND02415) and a son (ND02416);unaffected spouse is ND02417

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy

text: ND02418 male affected Epilepsy sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 1 DA

text: Melanocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Foreskin melanocyte cell culture;this culture tested 90% positive for melanocyte cell-specific gp100 (immunocytochemistry assay);other cultures from this same donor are GM22205 (fibroblast) and GM22204 (keratinocyte)

text: proband

characteristic: karyotype

text: Homo sapiens

text: Hispanic/Latino

text: Male

text: Apparently healthy non-fetal tissue

text: GM22203 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 48 YR

text: B-Lymphocyte

text: NINDS Repository

text: Affected brother is ND02215;unaffected son is ND02420;unaffected nephew is ND02216

characteristic: description

text: brother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: ND02419 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 1 DA

text: Keratinocyte

text: NIGMS Human Genetic Cell Repository

text: Foreskin keratinocyte cell culture;this culture tested 95% positive for keratinocyte cell-specific cytokeratin (immunocytochemistry assay);other cultures from this same donor are GM22205 (fibroblast) and GM22203 (melanocyte)

characteristic: family id

text: proband

text: Homo sapiens

text: Hispanic/Latino

text: Male

text: Apparently healthy non-fetal tissue

characteristic: tag

text: GM22204 male unaffected Apparently healthy non-fetal tissue sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 19 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected nephew of ND02215;unaffected father is ND02419;unaffected paternal cousin is ND02216

text: nephew

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: ND02420 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 1 DA

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Foreskin fibroblast cell culture;other cultures from this same donor are GM22203 (melanocyte) and GM22204 (keratinocyte)

text: proband

text: Homo sapiens

text: Hispanic/Latino

text: Male

text: Apparently healthy non-fetal tissue

text: Multiple cell types from same subject - foreskin

text: GM22205 male unaffected Apparently healthy non-fetal tissue sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: PD

text: 76 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse is ND02422

text: proband

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Parkinsons panel: caucasian from north america

text: Late onset parkinsons dna panel: affected individuals

text: PD

text: Parkinson disease

text: ND02421 female affected PD sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 11 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;mild right ocular ptosis;two hypopigmented spots: right thigh and left flank;three or four cafe-au-lait macules clustered on right hip;one fleshy cutaneous tumor on left abdomen;bilateral acoustic neuromas and right orbit meningioma;MRI of spine showed additional schwannomas and possibly meningiomas along the CNS axis;very mild conductive hearing loss;no family history;donor subject is heterozygous for a 1 bp deletion at nucleotide 476 in exon 5 of the NF2 gene (476delA) resulting in a frameshift (codon 159

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Neurofibromin 2

text: Neurofibromatosis type ii

text: GM22206 female affected NF2 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 77 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse of ND02421

characteristic: description

characteristic: family id

text: spouse

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Neurologically normal caucasian control update of plate ndpt008

text: Population/convenience control

text: Ndpt079 neurologically normal caucasion control

text: Neurologically normal caucasian control panel

text: ND02422 male unaffected Population/convenience control sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Propionic acidemia

text: 2 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;diagnosed at 3 days of age by newborn screening;failure to thrive;no family history;mitral valve regurgitation;normal gut motility;reflux;no eating by mouth;GJ-tube;vomiting once a month or more;acute neutropenia;chronic anemia;acute low platelets;walked at 16 months of age;talked at age 1 year;mildly impaired cognitive ability;on metabolic formula and levocarnitine;donor subject is a compound heterozygote: allele 1: has a substitution of arginine for lysine at codon 298 in exon 11 of the PCCA gene Lys298Arg (K298R) and allele 2: has a deletion of exons 13-20

text: proband

text: PCCA

text: DEL EX13-20

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: PCCA

characteristic: tag

text: Propionic acidemia

text: Propionyl-coa carboxylase alpha subunit

text: GM22208 female affected Propionic acidemia sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 59 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: maternal uncle

text: Homo sapiens

text: Caucasian

text: Male

text: ND02430 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 1 DA

text: Keratinocyte

text: NIGMS Human Genetic Cell Repository

text: Foreskin keratinocyte cell culture;this culture tested 99% positive for keratinocyte cell-specific cytokeratin (immunocytochemistry assay);another culture from this same donor is GM22222 (fibroblast)

text: proband

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Asian

text: Male

text: Apparently healthy non-fetal tissue

text: GM22221 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Intracranial aneurysm - unruptured

text: 28 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm unruptured: caucasian

text: Intracranial aneurysm - unruptured

text: ND02436 female affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

text: Generic

text: 1 DA

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Foreskin fibroblast cell culture;another culture from this same donor is GM22221 (keratinocyte)

characteristic: description

characteristic: family id

text: proband

text: Homo sapiens

text: Asian

characteristic: race

text: Male

text: Apparently healthy non-fetal tissue

text: Multiple cell types from same subject - foreskin

text: GM22222 male unaffected Apparently healthy non-fetal tissue sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 66 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: ND02437 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: Growth hormone insensitivity syndrome

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected sister of GM21902

text: SOUTH AFRICAN

characteristic: ethnicity

text: sister

text: Homo sapiens

text: Black

text: Female

text: Growth hormone insensitivity syndrome

characteristic: tag

text: GM22223 female affected Growth hormone insensitivity syndrome sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 47 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Subarachnoid hemorrhage

text: Subarachnoid hemorrhage, caucasian from north america

text: ND02438 female affected Subarachnoid hemorrhage sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 4 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;delivered via C-section at 35 weeks gestation with a 2 vessel umbilical cord;hospitalized 10 days for feeding issues;splenomegaly first noted at 2 years of age;developmental delay and mild ataxia;hepatomegaly noted at age 3 years and 9 months;persistent mild elevated AST and LDH;elevated DHEA;mild leukopenia;mild eosinophilia;fatigues easily;difficulty following directions;some phonological process and syntax deficits;see GM22870 Fibroblast;affected monozygotic twin sister (GM22256);donor subject has a 1 bp deletion in exon 12 of the NPC1 gene (1920delG) inherited from her mother;her paternal mutation is a missense mutation (IVS9-1009G>A)

text: proband

characteristic: gene

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Npc1 gene

text: Niemann-pick disease type c1

text: GM22227 female affected NPC1 sample


text: Coriell

text: live

text: Generic

text: 42 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

characteristic: family id

text: nephew

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: ND02440 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 7 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;diagnosed at age 7 1/2 years;enlarged spleen detected at age 3 months;vertical gaze palsy observed at age 7 years;sleepwalking;affected brother is GM22230;donor subject is a compound heterozygote: one allele has an intronic mutation (IVS21-2A>G);the second allele has a C>T change at nucleotide 2932 in exon 20 of the NPC1 gene (2932C>T) resulting in the substitution of cysteine for arginine at codon 978 Arg978Cys (R978C)

characteristic: description

text: ITALIAN/PORTUGUESE/ENGLISH/SCOTTISH/IRISH

text: sister

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Npc1 gene

text: Niemann-pick disease type c1

text: GM22229 female affected NPC1 sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 60 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Subarachnoid hemorrhage

characteristic: tag

text: ND02449 female affected Subarachnoid hemorrhage sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 10 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;diagnosed at age 10 1/2 years;neonatal jaundice;yellow sclerae for five days;enlarged spleen detected at age 5 years;clumsiness at age 7 years;learning difficulties beginning at age 8 years;ataxia observed at age 7-8 years;vertical gaze palsy observed at age 10 years;dysarthria observed at age 10 years;dysphagia detected at age 10 years;mild coughing when eating;mild cataplexy controlled by methylphenidate;affected sister is GM22229;donor subject is a compound heterozygote: one allele has an intronic mutation (IVS21-2A>G);the second allele has a C>T change at nucleotide 2932 in exon 20 of the NPC1 gene (2932C>T) resulting in the substitution of cysteine for arginine at codon 978 Arg978Cys (R978C)

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Npc1 gene

text: Niemann-pick disease type c1

text: GM22230 male affected NPC1 sample

characteristic: title


text: Coriell

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 58 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: sister

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND02450 female affected Intracranial aneurysm - unruptured sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 42 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;serum creatine phosphokinase is 76 U/L;serum bone-specific alkaline phosphatase is 57 U/L;affected cousin is GM21751;see GM22238 Fibroblast

characteristic: family id

text: cousin

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: IBMPFD

text: GM22237 female unaffected Inclusion body myopathy with early-onset paget disease and frontotemporal dementia sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: Parkinson disease

text: 57 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: PD

text: Parkinson disease

text: ND02453 female affected Parkinson disease sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 42 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;serum creatine phosphokinase is 76 U/L;serum bone-specific alkaline phosphatase is 57 U/L;affected cousin is GM21752;see GM22237 Lymphoid

characteristic: description

text: cousin

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: IBMPFD

text: GM22238 female unaffected Inclusion body myopathy with early-onset paget disease and frontotemporal dementia sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 50 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND02458 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

text: 38 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: At risk;currently asymptomatic;serum creatine phosphokinase is 71 U/L;serum bone-specific alkaline phosphatase is 83 U/L;donor subject is heterozygous for a G>A transition at nucleotide 464 in exon 5 of the VCP gene (464G>A) resulting in the substitution of histidine for arginine at codon 155 Arg155His(R155H);see GM22240 Fibroblast

text: cousin

text: VCP

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Inclusion body myopathy with early-onset paget disease and frontotemporal dementia

text: IBMPFD

text: VCP

text: Valosin-containing protein

text: GM22239 female unaffected VCP sample


text: Coriell

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 51 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: sister

text: Homo sapiens

characteristic: organism

text: Asian

text: Female

text: Subarachnoid hemorrhage

text: ND02459 female affected Subarachnoid hemorrhage sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 38 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: At risk;currently asymptomatic;serum creatine phosphokinase is 71 U/L;serum bone-specific alkaline phosphatase is 83 U/L;donor subject is heterozygous for a G>A transition at nucleotide 464 in exon 5 of the VCP gene (464G>A) resulting in the substitution of histidine for arginine at codon 155 Arg155His(R155H);see GM22239 Lymphoid

characteristic: family id

text: cousin

text: VCP

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: IBMPFD

text: VCP

text: Valosin-containing protein

text: GM22240 female unaffected VCP sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: Subarachnoid hemorrhage

text: 52 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Subarachnoid hemorrhage

text: Subarachnoid hemorrhage, caucasian from north america

text: ND02460 male affected Subarachnoid hemorrhage sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 51 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;past history of smoking (1 pack a day for 9 years);no glaucomatous visual field loss;normal color vision

characteristic: description

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: GM22241 female unaffected Apparently healthy individual with normal visual screening sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 66 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: ND02461 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: Glaucoma, primary open angle

text: 53 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;mother is also affected;current smoker (3 packs a day for 25 years);glaucomatous visual field loss in right eye;normal color vision

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: POAG

text: Glaucoma, primary open angle

text: GM22242 male affected Glaucoma, primary open angle sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 21 YR

text: B-Lymphocyte

text: NINDS Repository

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: ND02462 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 70 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;osteoporosis;sensoral and food allergies;past history of smoking (3 and 1/2 packs a day for 55 years - stopped 2 years ago);no glaucomatous visual field loss;normal color vision

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: GM22243 female unaffected Apparently healthy individual with normal visual screening sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 57 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: sister

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: ND02463 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: AT

text: 5 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;ataxia first observed at 8 months of age;unsteady walker at 18 months of age;telangiectasias observed in eyes at 5 1/2 years of age;elevated alpha fetoprotein (86);chronic cough;reduced IgA;normal IgG;elevated IgM;no family history of cancer;subject is a full time kindergarten student;parents are first cousins;donor subject is homozygous for a 1 bp deletion at nucleotide 3198 in exon 24 of the ATM gene (3198delA) resulting in a frameshift and a premature stop codon

text: ATM

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Asiatic Indian

text: Female

text: AT

text: Ataxia-telangiectasia

text: Ataxia-telangiectasia mutated gene

text: ATM

text: GM22244 female affected AT sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 56 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND02464 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 40 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically normal;serum creatine phosphokinase is 162 U/L;serum bone-specific alkaline phosphatase is 52 U/L;affected cousin is GM21751;see GM22246 Fibroblast

characteristic: description

text: cousin

text: Homo sapiens

text: Caucasian

text: Male

text: IBMPFD

text: GM22245 male unaffected Inclusion body myopathy with early-onset paget disease and frontotemporal dementia sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 68 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND02465 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: 40 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;serum creatine phosphokinase is 162 U/L;serum bone-specific alkaline phosphatase is 52 U/L;affected cousin is GM21752;see GM22245 Lymphoid

characteristic: family id

text: cousin

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: IBMPFD

text: GM22246 male unaffected Inclusion body myopathy with early-onset paget disease and frontotemporal dementia sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Parkinson disease

text: 70 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse is ND02472;unaffected daughter is ND02473;unaffected nephew is ND02474

text: proband

characteristic: gene

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: PD

text: Parkinson disease

text: ND02471 male affected Parkinson disease sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 47 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;serum creatine phosphokinase is 95 U/L;serum bone-specific alkaline phosphatase is 47 U/L;affected cousin is GM21751;see GM22248 Fibroblast

text: cousin

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: IBMPFD

text: GM22247 female unaffected Inclusion body myopathy with early-onset paget disease and frontotemporal dementia sample


text: Coriell

text: live

text: Generic

text: 45 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse of ND02471

text: spouse

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND02472 female unaffected Population/convenience control sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 47 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;serum creatine phosphokinase is 95 U/L;serum bone-specific alkaline phosphatase is 47 U/L;affected cousin is GM21752;see GM22247 Lymphoid

characteristic: description

text: cousin

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: IBMPFD

text: GM22248 female unaffected Inclusion body myopathy with early-onset paget disease and frontotemporal dementia sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: 36 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected daughter of ND02471

characteristic: family id

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: ND02473 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Glaucoma, primary open angle

text: 61 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;no family history of glaucoma;hypertension;coronary artery disease;arthritis;ocular migraines;on prostaglandin for both eyes;no history of smoking;glaucomatous visual loss in left eye;normal color vision;cataracts in each eye

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: POAG

text: Glaucoma, primary open angle

text: GM22249 female affected Glaucoma, primary open angle sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 36 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected nephew of ND02471

text: nephew

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

characteristic: tag

text: ND02474 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 1 DA

characteristic: cell line

text: Melanocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Foreskin melanocyte cell culture;this culture tested 99% positive for melanocyte cell-specific gp100 (immunocytochemistry assay);other cultures from this same donor are GM22252 (fibroblast) and GM22251 (keratinocyte)

text: proband

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Apparently healthy non-fetal tissue

text: Multiple cell types from same subject - foreskin

text: GM22250 male unaffected Apparently healthy non-fetal tissue sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 80 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND02477 female affected Intracranial aneurysm - unruptured sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: 1 DA

text: Keratinocyte

text: NIGMS Human Genetic Cell Repository

text: Foreskin keratinocyte cell culture;this culture tested 95% positive for keratinocyte cell-specific cytokeratin (immunocytochemistry assay);other cultures from this same donor are GM22252 (fibroblast) and GM22250 (melanocyte)

characteristic: description

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Apparently healthy non-fetal tissue

text: GM22251 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 53 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm unruptured: caucasian

text: Intracranial aneurysm - unruptured

text: ND02480 female affected Intracranial aneurysm - unruptured sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 1 DA

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Foreskin fibroblast cell culture;other cultures from this same donor are GM22250 (melanocyte) and GM22251 (keratinocyte)

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Apparently healthy non-fetal tissue

text: GM22252 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

text: Generic

text: 47 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

characteristic: tag

text: ND02481 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 1 DA

text: Melanocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Foreskin melanocyte cell culture;this culture tested 95% positive for melanocyte cell-specific gp100 (immunocytochemistry assay);other cultures from this same donor are GM22255 (fibroblast) and GM22254 (keratinocyte)

text: proband

characteristic: karyotype

text: Homo sapiens

text: Hispanic/Latino

text: Male

text: Apparently healthy non-fetal tissue

text: GM22253 male unaffected Apparently healthy non-fetal tissue sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Epilepsy

text: 2 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: More than one race

text: Female

text: Epilepsy

text: ND02486 female affected Epilepsy sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: 1 DA

text: Keratinocyte

text: NIGMS Human Genetic Cell Repository

text: Foreskin keratinocyte cell culture;this culture tested 99% positive for keratinocyte cell-specific cytokeratin (immunocytochemistry assay);other cultures from this same donor are GM22255 (fibroblast) and GM22253 (melanocyte)

characteristic: description

text: proband

text: Homo sapiens

text: Hispanic/Latino

text: Male

text: Apparently healthy non-fetal tissue

text: GM22254 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 22 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND02487 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

text: 1 DA

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Foreskin fibroblast cell culture;other cultures from this same donor are GM22253 (melanocyte) and GM22254 (keratinocyte)

text: proband

text: Homo sapiens

text: Hispanic/Latino

text: Male

text: Apparently healthy non-fetal tissue

text: GM22255 male unaffected Apparently healthy non-fetal tissue sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 38 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: African American

characteristic: race

text: Male

characteristic: sex

text: ND02488 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 4 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;delivered via C-section at 35 weeks gestation;hospitalized 10 days for feeding issues;splenomegaly first noted at 2 years of age;global developmental delay more pronounced in fine and gross motor skills with early signs of ataxia;hepatomegaly noted at age 3 years and 9 months;persistent mild elevated AST and LDH;elevated DHEA;mild leukopenia;regression of speech;see GM22871 Fibroblast;affected monozygotic twin sister (GM22227);donor subject has a 1 bp deletion in exon 12 of the NPC1 gene (1920delG) inherited from her mother;her paternal mutation is a missense mutation (IVS9-1009G>A)

text: identical twin sister

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Npc1 gene

characteristic: tag

text: Niemann-pick disease type c1

text: GM22256 female affected NPC1 sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 41 YR

text: B-Lymphocyte

text: NINDS Repository

text: son

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: ND02489 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: 1 DA

characteristic: age

text: Melanocyte

text: NIGMS Human Genetic Cell Repository

text: Foreskin melanocyte cell culture;this culture tested 99% positive for melanocyte cell-specific gp100 (immunocytochemistry assay);other cultures from this same donor are GM22260 (fibroblast) and GM22259 (keratinocyte)

characteristic: description

text: proband

characteristic: karyotype

text: Homo sapiens

text: Black

text: Male

text: Apparently healthy non-fetal tissue

text: Multiple cell types from same subject - foreskin

text: GM22258 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 48 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: ND02493 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 1 DA

text: Keratinocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Foreskin keratinocyte cell culture;this culture tested 99% positive for keratinocyte cell-specific cytokeratin (immunocytochemistry assay);other cultures from this same donor are GM22260 (fibroblast) and GM22258 (melanocyte)

text: proband

text: Homo sapiens

text: Black

characteristic: race

text: Male

characteristic: sex

text: Apparently healthy non-fetal tissue

text: GM22259 male unaffected Apparently healthy non-fetal tissue sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 68 YR

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: ND02495 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 1 DA

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Foreskin fibroblast cell culture;other cultures from this same donor are GM22258 (melanocyte) and GM22259 (keratinocyte)

text: proband

text: Homo sapiens

characteristic: organism

text: Black

text: Male

text: Apparently healthy non-fetal tissue

text: GM22260 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Intracranial aneurysm - unruptured

text: 64 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Intracranial aneurysm - unruptured

text: ND02496 male affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 1 DA

text: Melanocyte

text: NIGMS Human Genetic Cell Repository

text: Foreskin melanocyte cell culture;this culture tested 99% positive for melanocyte cell-specific gp100 (immunocytochemistry assay);other cultures from this same donor are GM22263 (fibroblast) and GM22262 (keratinocyte)

characteristic: description

text: proband

characteristic: karyotype

text: Homo sapiens

text: Hispanic/Latino

text: Male

text: Apparently healthy non-fetal tissue

text: GM22261 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Subarachnoid hemorrhage

text: 62 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Subarachnoid hemorrhage

text: Subarachnoid hemorrhage, caucasian from north america

text: ND02497 male affected Subarachnoid hemorrhage sample


text: Coriell

text: live

text: Generic

text: 1 DA

text: Keratinocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Foreskin keratinocyte cell culture;this culture tested 95% positive for keratinocyte cell-specific cytokeratin (immunocytochemistry assay);other cultures from this same donor are GM22263 (fibroblast) and GM22261 (melanocyte)

text: proband

text: Homo sapiens

text: Hispanic/Latino

text: Male

text: Apparently healthy non-fetal tissue

text: GM22262 male unaffected Apparently healthy non-fetal tissue sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 63 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Subarachnoid hemorrhage

text: ND02498 female affected Subarachnoid hemorrhage sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 1 DA

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Foreskin fibroblast cell culture;other cultures from this same donor are GM22261 (melanocyte) and GM22262 (keratinocyte)

text: proband

text: Homo sapiens

text: Hispanic/Latino

text: Male

text: Apparently healthy non-fetal tissue

characteristic: tag

text: GM22263 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: 66 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

characteristic: organism

text: Asian

text: Female

text: ND02499 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 48 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;arthritis;depression;past history of smoking;1 pack a day for the last 40 years;no glaucomatous visual feld loss;red-green deficit in color vision

characteristic: description

text: Homo sapiens

text: Caucasian

text: Male

text: GM22264 male unaffected Apparently healthy individual with normal visual screening sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Intracranial aneurysm - unruptured

text: 57 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND02500 female affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

text: Generic

text: Primary angle-closure glaucoma

text: 85 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;no family history of glaucoma;hypertension;osteoarthritis;past history of smoking;1 pack a day for 38 years;glaucomatous visual field loss in both eyes;normal color vision

text: Homo sapiens

text: Caucasian

text: Female

text: Primary angle-closure glaucoma

text: GM22265 female affected Primary angle-closure glaucoma sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: PD

text: 69 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse is ND02505

text: proband

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Parkinsons panel: caucasian from the united states

text: PD

text: Parkinson disease

text: ND02504 male affected PD sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: 1 DA

text: Melanocyte

text: NIGMS Human Genetic Cell Repository

text: Foreskin melanocyte cell culture;this culture tested 99% positive for melanocyte cell-specific gp100 (immunocytochemistry assay);other cultures from this same donor are GM22268 (fibroblast) and GM22267 (keratinocyte)

text: proband

characteristic: karyotype

text: Homo sapiens

text: Black

text: Male

text: Apparently healthy non-fetal tissue

characteristic: tag

text: Multiple cell types from same subject - foreskin

text: GM22266 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 51 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND02504

characteristic: description

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND02505 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 1 DA

characteristic: cell line

text: Keratinocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Foreskin keratinocyte cell culture;this culture tested 99% positive for keratinocyte cell-specific cytokeratin (immunocytochemistry assay);other cultures from this same donor are GM22268 (fibroblast) and GM22266 (melanocyte)

characteristic: family id

text: proband

text: Homo sapiens

text: Black

text: Male

text: Apparently healthy non-fetal tissue

text: GM22267 male unaffected Apparently healthy non-fetal tissue sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Dementia with lewy bodies

text: 77 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected daughter is ND02510

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Dementia with lewy bodies

text: ND02511 male affected Dementia with lewy bodies sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 1 DA

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Foreskin fibroblast cell culture;other cultures from this same donor are GM22266 (melanocyte) and GM22267 (keratinocyte)

text: proband

text: Homo sapiens

text: Black

text: Male

text: Apparently healthy non-fetal tissue

text: GM22268 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 55 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND02517 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Glaucoma, primary open angle

text: 60 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;mother is also affected;hypertension;coronary artery disease with myocardial infarction;high cholesterol;current smoker : 2 packs a day for 40 years;glaucomatous visual field loss in left eye;normal color vision

text: Homo sapiens

text: Caucasian

text: Male

text: POAG

text: Glaucoma, primary open angle

text: GM22269 male affected Glaucoma, primary open angle sample


text: Coriell

text: live

text: Generic

text: 59 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: ND02518 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 1 DA

characteristic: cell line

text: Melanocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Foreskin melanocyte cell culture;this culture tested 80% positive for melanocyte cell-specific gp100 (immunocytochemistry assay);other cultures from this same donor are GM22277 (fibroblast) and GM22276 (keratinocyte)

characteristic: description

text: proband

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Apparently healthy non-fetal tissue

text: GM22275 male unaffected Apparently healthy non-fetal tissue sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 28 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: ND02519 male 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: Parkinson disease

text: 60 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND02528

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Young onset parkinsons dna panel: affected individuals

text: PD

text: Parkinson disease

text: ND02527 male affected Parkinson disease sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: 61 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse of ND02527

text: spouse

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Control

characteristic: tag

text: Population/convenience control

text: Neurologically normal caucasian control panel

text: ND02528 female unaffected Control sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Parkinson disease

text: 58 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse is ND02531

text: proband

text: WILDTYPE for GLY2019

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: ND02530 male affected Parkinson disease sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 1 DA

text: Keratinocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Foreskin keratinocyte cell culture;this culture tested 95% positive for keratinocyte cell-specific cytokeratin (immunocytochemistry assay);other cultures from this same donor are GM22277 (fibroblast) and GM22275 (melanocyte)

characteristic: description

text: proband

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Apparently healthy non-fetal tissue

text: Multiple cell types from same subject - foreskin

text: GM22276 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 56 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse of ND02530

characteristic: family id

text: spouse

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Population/convenience control

text: ND02531 female unaffected Population/convenience control sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: 1 DA

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Foreskin fibroblast cell culture;other cultures from this same donor are GM22275 (melanocyte) and GM22276 (keratinocyte)

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Apparently healthy non-fetal tissue

text: GM22277 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Parkinson disease

text: 71 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: PD

text: Parkinson disease

text: ND02533 male affected Parkinson disease sample


text: Coriell

text: live

text: Generic

text: Neurofibromatosis type i

text: 23 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;diagnosed at age 8 years;has had over 30 tumors removed;most having caused nerve damage;it is assumed that NF caused him to lose his sight in the right eye;a scan showed numerous tumors throughout the body and an inoperable one in the brain;affected grandmother is GM21843 and affected maternal aunt is GM21844;asymptomatic mother is GM21845;see GM21865 Lymphoid;culture grown from explants of capsule and connective tissue harvested at the time of neurofibroma removal surgically;see GM21865 Lymphoid

text: nephew

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Neurofibromatosis type i

text: GM22279 male affected Neurofibromatosis type i sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 73 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected spouse of ND02533

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND02534 female unaffected Dna control panel for late onset parkinsons: unaffected individuals sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Glaucoma, primary open angle

text: 79 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;no family history of glaucoma;hypertension;noninsulin-dependent diabetes with onset at age 60 years;hypothyroidism;benign prostate hypertrophy;pernicious anemia;diverticulitis;gastroesophageal reflux;nonsmoker;glaucomatous visual field loss in right eye;normal color vision

characteristic: description

text: Homo sapiens

text: Caucasian

text: Male

text: POAG

text: Glaucoma, primary open angle

text: GM22281 male affected Glaucoma, primary open angle sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 60 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Asian

characteristic: race

text: Male

text: Intracranial aneurysm - unruptured

text: ND02535 male affected Intracranial aneurysm - unruptured sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: Glaucoma, primary open angle

text: 71 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;daughter is affected with closed-angle glaucoma;cataracts in left eye;arthritis;high cholesterol;osteoporosis;chronic obstructive pulmonary disease;past history of smoking (1 1/2 packs a day for 45 years);glaucomatous visual field loss in both eyes;normal color vision

text: Homo sapiens

text: Caucasian

text: Female

text: POAG

text: Glaucoma, primary open angle

text: GM22285 female affected Glaucoma, primary open angle sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Epilepsy

text: 8 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother is ND02538;unaffected father is ND02539;unaffected sister is ND02540

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Epilepsy

text: Epilepsy, focal: caucasian

text: ND02537 female affected Epilepsy sample


text: Coriell

text: live

text: Generic

text: Glaucoma, primary open angle

text: 58 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;mother;sister;brother and maternal grandmother are also affected;high cholesterol;gastroesophageal reflux;no history of smoking;glaucomatous visual field loss in both eyes;normal color vision

text: Homo sapiens

text: Caucasian

text: Female

text: POAG

characteristic: tag

text: Glaucoma, primary open angle

text: GM22295 female affected Glaucoma, primary open angle sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 40 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected mother of one affected daughter (ND02537) and one unaffected daughter (ND02540);unaffected spouse is ND02539

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND02538 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 48 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically normal;high cholesterol;gastroesophageal reflux;very mild cataracts in both eyes;current smoker (1/2 a pack a day for 25 years);no glaucomatous visual field loss;normal color vision

text: Homo sapiens

text: Caucasian

text: Male

text: GM22296 male unaffected Apparently healthy individual with normal visual screening sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 47 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected father of one affected daughter (ND02537) and one unaffected daughter (ND02540);unaffected spouse is ND02538

characteristic: description

characteristic: family id

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND02539 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: 6 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Autistic

text: 46;XY;dup(15)(pter->q12::q11->qter).ish dup(15)(D15Z1+;GABRB3 enh;D15S11 enh).arr 15q11.2q13.1(22282965-26500067)x3

characteristic: karyotype

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Duplicated chromosome

text: GM22364 male unaffected Chromosome 15q11-q13 duplication syndrome sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 12 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected sister of ND02537;daughter of two unaffected parents mother (ND02538) and father (ND02539)

text: sister

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: ND02540 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Propionic acidemia

text: 11 MO

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;diagnosed at 19 days of age by newborn screen;no family history;gut motility is normal;eats by mouth;not yet walking;on levocarnitine and metabolic formula;donor subject is a compound heterozygote: one allele has a G>A change at nucleotide 667 of the PCCA gene (667G>A) resulting in the substitution of lysine for glutamic acid at codon 233 Glu233Lys (E233K);the second allele has a G>T change at nucleotide 1355 (1355G>T) resulting in a substitution of valine for glycine at codon 452 Gly452Val (G452V)

text: proband

text: PCCA

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: PCCA

characteristic: tag

text: Propionic acidemia

text: Propionyl-coa carboxylase alpha subunit

text: GM22366 female affected Propionic acidemia sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 59 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: brother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: ND02545 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: 40 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal mother of an affected child (GM22366)

characteristic: description

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: PCCA

text: Propionic acidemia

text: Propionyl-coa carboxylase alpha subunit

text: GM22367 female unaffected Propionic acidemia sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 41 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: ND02546 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: VCP

text: 42 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;Paget disease;serum creatine phosphokinase is 266 U/L;serum bone-specific alkaline phosphatase is 124 U/L;radiographs showed parietal and occipital irregular thickening of the skull;picture framing an enlargement of the T12 and L1 vertebral bodies;upper end plate sclerosis of the L2 vertebral body;and proximal thickening with increased coarsening of the right humerous;donor subject is heterozygous for a G>A transition at nucleotide 464 in exon 5 of the VCP gene (464G>A) resulting in the substitution of histidine for arginine at codon 155 Arg155His(R155H);see GM22369 Fibroblast

text: proband

text: VCP

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Inclusion body myopathy with early-onset paget disease and frontotemporal dementia

text: IBMPFD

text: VCP

text: Valosin-containing protein

text: GM22368 male affected VCP sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Dementia with lewy bodies

text: 82 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse is ND02549

text: proband

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

text: Male

text: Dementia with lewy bodies

characteristic: tag

text: ND02548 male affected Dementia with lewy bodies sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: VCP

text: 42 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;Paget disease;serum creatine phosphokinase is 266 U/L;serum bone-specific alkaline phosphatase is 124 U/L;radiographs showed parietal and occipital irregular thickening of the skull;picture framing an enlargement of the T12 and L1 vertebral bodies;upper end plate sclerosis of the L2 vertebral body;and proximal thickening with increased coarsening of the right humerous;donor subject is heterozygous for a G>A transition at nucleotide 464 in exon 5 of the VCP gene (464G>A) resulting in the substitution of histidine for arginine at codon 155 Arg155His(R155H);see GM22368 Lymphoid

characteristic: description

text: proband

text: VCP

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: IBMPFD

text: VCP

text: Valosin-containing protein

text: GM22369 male affected VCP sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 79 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse of ND02548

characteristic: family id

text: spouse

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: ND02549 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: TAZ

text: 8 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;restrictive cardiomyopathy;at 3 years of age had first episode of wheezing;multiple episodes of asthma and recurrent pneumonia from age 3 to 6;cardiomegaly on chest radiograph at age 6 1/2;echocardiogram demonstrated findings typical of a restrictive cardiomyopathy as well as mild left-ventricular noncompaction and pulmonary hypertension;no significant ventricular dilation;cardiac catheterization confirmed restrictive cardiomyopathy with severe pulmonary hypertension and significantly elevated pulmonary vascular resistance;no neutropenia or neurologic abnormalities;inadequate weight gain without nasogastric feedings;mild exercise intolerance;no arrhythmias;currently awaiting heart transplant;donor subject is hemizygous for a T>C change at nucleotide 383 in exon 5 of the TAZ (G4.5) gene c.383T>C resulting in the substitution of serine for phenylalanine at codon 128 Phe128Ser (F128S)

text: AFRICAN-AMERICAN

characteristic: ethnicity

text: TAZ

text: Homo sapiens

text: Black

text: Male

characteristic: sex

text: Tafazzin

text: BTHS

text: Barth syndrome

text: TAZ

text: GM22382 male affected TAZ sample

characteristic: title