text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 50 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

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

text: spouse

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: ND02550 male unaffected Population/convenience control sample


status: PUBLIC

tag: attribute

characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Glaucoma, primary open angle

text: 78 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;brother and sister are also affected;hypertension;gastroesophageal reflux;prostate cancer;cataracts in both eyes;dilation of right eye's Schlemm's canal;no history of smoking;glaucomatous visual field loss in right eye;normal color vision

characteristic: description

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: POAG

characteristic: tag

text: Glaucoma, primary open angle

text: GM22389 male affected Glaucoma, primary open angle sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 49 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: spouse

characteristic: gene

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: Neurologically normal caucasian control panel

text: ND02551 female unaffected Control panel for young onset parkinsons: unaffected individuals sample


characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Glaucoma, primary open angle

text: 96 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;father is also affected;hypertension;coronary artery disease;osteopenia;no history of smoking;glaucomatous visual field loss in both eyes;abnormal color vision

text: Homo sapiens

text: Caucasian

text: Male

text: POAG

text: Glaucoma, primary open angle

text: GM22390 male affected Glaucoma, primary open angle sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 75 YR

characteristic: age

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 of ND02659

text: spouse

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Neurologically normal caucasian control update of plate ndpt008

text: Population/convenience control

text: Ndpt079 neurologically normal caucasion control

text: ND02553 female unaffected Population/convenience control sample


text: Coriell

text: live

text: Generic

text: Glaucoma, primary open angle

text: 89 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;child is also affected;arthritis;high cholesterol;gout;anemia;valve implant;smoked 10-14 cigarettes daily (stopped smoking at age 46 years);glaucomatous visual field loss in both eyes;normal color vision

characteristic: description

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: POAG

text: Glaucoma, primary open angle

text: GM22391 female affected Glaucoma, primary open angle sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: PD

text: 77 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Affected father of ND02557

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinsons panel: caucasian from the united states

characteristic: tag

text: PD

text: Parkinson disease

text: ND02556 male affected PD sample

characteristic: title


characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Glaucoma, primary open angle

text: 61 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;brother and paternal cousin are also affected;hypertension;high cholesterol;smoked 1/2 a pack a day for 10 years (stopped over 30 years ago);glaucomatous visual field loss in left eye;normal color vision

text: Homo sapiens

text: Black

text: Male

text: POAG

text: Glaucoma, primary open angle

text: GM22392 male affected Glaucoma, primary open angle sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 49 YR

text: B-Lymphocyte

text: NINDS Repository

text: Affected father is ND02556

characteristic: family id

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: ND02557 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: VCP

text: 37 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;myopathy with onset at age 37 years;Paget disease with onset at 50;serum creatine phosphokinase is 62 U/L;serum bone-specific alkaline phosphatase is 782 U/L;radiograph of skull shows thickening of calvarium;donor subject is heterozygous for a T>G transversion at nucleotide 593 in exon 6 of the VCP gene 593T>G resulting in a substitution of tryptophan for leucine at codon 198 Leu198Trp (L198W);affected sister is GM22395;see GM22394 Fibroblast

text: brother

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: GM22393 male affected VCP sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Epilepsy

text: 14 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother is ND02571;unaffected father is ND02572

characteristic: description

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Epilepsy generalized: caucasian

text: Epilepsy

text: ND02570 male affected Epilepsy sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: VCP

text: 37 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;myopathy with onset at age 37 years;Paget disease with onset at 50;serum creatine phosphokinase is 62 U/L;serum bone-specific alkaline phosphatase is 782 U/L;radiograph of skull shows thickening of calvarium;donor subject is heterozygous for a T>G transversion at nucleotide 593 in exon 6 of the VCP gene 593T>G resulting in a substitution of tryptophan for leucine at codon 198 Leu198Trp (L198W);affected sister is GM22396;see GM22393 Lymphoid

text: brother

text: VCP

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: IBMPFD

text: VCP

text: Valosin-containing protein

text: GM22394 male affected VCP sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 34 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother of ND02570;spouse of ND02572

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND02571 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: VCP

text: 39 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;myopathy with onset at age 34 years;serum creatine phosphokinase is 473 U/L;serum bone-specific alkaline phosphatase is 59 U/L;donor subject is heterozygous for a T>G transversion at nucleotide 593 in exon 6 of the VCP gene 593T>G resulting in a substitution of tryptophan for leucine at codon 198 Leu198Trp (L198W);affected brother is GM22393;see GM22396 Fibroblast

characteristic: family id

text: proband

text: VCP

text: Homo sapiens

text: Caucasian

text: Female

text: IBMPFD

text: VCP

text: Valosin-containing protein

text: GM22395 female affected VCP sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 34 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected father of ND02570;spouse of ND02571

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND02572 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: VCP

text: 39 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;myopathy with onset at age 34 years;serum creatine phosphokinase is 473 U/L;serum bone-specific alkaline phosphatase is 59 U/L;donor subject is heterozygous for a T>G transversion at nucleotide 593 in exon 6 of the VCP gene 593T>G resulting in a substitution of tryptophan for leucine at codon 198 Leu198Trp (L198W);affected brother is GM22394;see GM22395 Lymphoid

characteristic: description

text: proband

text: VCP

characteristic: gene

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: IBMPFD

text: VCP

text: Valosin-containing protein

text: GM22396 female affected VCP sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 45 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Intracranial aneurysm - unruptured

text: ND02573 female affected Intracranial aneurysm - unruptured sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 16 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(21245026-26500067)x3

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: Duplicated chromosome

text: GM22397 male unaffected Chromosome 15q11-q13 duplication syndrome sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Parkinson disease

text: 71 YR

characteristic: age

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 ND02576

text: proband

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinsons panel: caucasian from the united states

text: PD

text: Parkinson disease

text: ND02575 male affected Parkinson disease sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 64 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically normal;hypertension;high cholesterol;seizure disorder;family history of breast cancer;past history of smoking (1 pack a day for 5 years - stopped at age 39);no glaucomatous visual field loss;normal color vision

characteristic: description

text: Homo sapiens

text: Caucasian

text: Female

text: GM22495 female unaffected Apparently healthy individual with normal visual screening sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: PD

text: 68 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 ND02580

characteristic: family id

text: proband

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: ND02579 male affected PD sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Propionic acidemia

text: 8 WK

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;diagnosed by newborn screening;hospitalized for decreased feeding;low muscle tone;hypothermia;severe hyperammonemia and metabolic acidosis;markedly elevated propionic acid metabolites by urine organic acid analysis;no family history;on levocarnitine;donor subject is homozygous for a 14 bp deletion and a 12 bp insertion at nucleotide 1218 in exon 12 of the PCCB gene c.1218_1231delinsTAGAGCACAGGA (c.1218del14ins12) resulting in a frameshift and stop codon at Gly406 (Gly406fs)

text: proband

text: PCCB

text: 14-BP DEL

text: 12-BP INS

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Propionic acidemia

characteristic: tag

text: GM22496 male affected Propionic acidemia sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 51 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 of ND02579

text: spouse

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND02580 female unaffected Population/convenience control sample

characteristic: title


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically normal mother of an affected child (GM22496)

characteristic: description

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Propionic acidemia

text: GM22497 female unaffected Propionic acidemia sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 55 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND02591 female affected Intracranial aneurysm - unruptured sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal father of an affected child (GM22496)

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Propionic acidemia

text: GM22498 male unaffected Propionic acidemia sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 74 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

characteristic: tag

text: PD

text: Parkinson disease

text: ND02595 male affected Parkinson disease sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Glaucoma, primary open angle

text: 63 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;no family history of glaucoma;hypertension;hypothyroidism;enlarged prostate;low HDL;past history of smoking (1 pack a day for 20 years - stopped at age 43 years);glaucomatous visual field loss in both eyes;normal color vision

text: Homo sapiens

text: Caucasian

text: Male

text: POAG

text: Glaucoma, primary open angle

text: GM22500 male affected Glaucoma, primary open angle sample


text: Coriell

text: live

text: Generic

text: 57 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND02595

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: Neurologically normal caucasian control panel

text: ND02596 female unaffected Dna control panel for late onset parkinsons: unaffected individuals sample

characteristic: title


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 62 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;arthritis;no history of smoking;no glaucomatous visual field loss;normal color vision

text: Homo sapiens

text: Caucasian

text: Female

text: GM22501 female unaffected Apparently healthy individual with normal visual screening sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 68 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Subarachnoid hemorrhage

text: Subarachnoid hemorrhage, caucasian from north america

text: ND02599 male affected Subarachnoid hemorrhage sample


text: Coriell

text: live

text: Generic

text: Glaucoma, primary open angle

text: 65 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;maternal grandmother also affected;diet-controlled diabetes (onset at age 55 years);back problems;glaucomatous visual field loss in both eyes;normal color vision

characteristic: description

text: Homo sapiens

text: Black

text: Male

text: POAG

text: Glaucoma, primary open angle

text: GM22502 male affected Glaucoma, primary open angle sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 49 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Subarachnoid hemorrhage

text: ND02603 female affected Subarachnoid hemorrhage sample


text: Coriell

text: live

text: Generic

text: Glaucoma, primary open angle

text: 67 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;mother and uncle are also affected;hypertension;osteoarthritis;high cholesterol;past history of smoking ( one pack a day for 8 years - stopped at age 32 years);no glaucomatous visual field loss;normal color vision

text: Homo sapiens

characteristic: organism

text: Black

characteristic: race

text: Female

characteristic: sex

text: POAG

text: Glaucoma, primary open angle

text: GM22511 female affected Glaucoma, primary open angle sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Subarachnoid hemorrhage

text: 52 YR

text: B-Lymphocyte

text: NINDS Repository

text: niece

text: Homo sapiens

text: Caucasian

text: Female

text: Subarachnoid hemorrhage

characteristic: tag

text: ND02604 female affected Subarachnoid hemorrhage sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Glaucoma, primary open angle

text: 74 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;no family history of glaucoma;cataracts in both eyes;high cholesterol;neuralgia on left side of face;5th nerve tic de la rou;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: GM22513 female affected Glaucoma, primary open angle sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Epilepsy

text: 1 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: African American

text: Female

text: Epilepsy

text: ND02605 female affected Epilepsy sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Glaucoma, primary open angle

text: 75 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;brother also affected;hypertension;noninsulin-dependent diabetes with onset at 55 years of age;rheumatoid heart disease;heart murmur;coronary artery disease;arthritis;high cholesterol;past history of smoking - 1 pack a day for 25 years;stopped at 43 years of age;cataracts in both eyes;glaucomatous visual field loss in left eye;normal color vision

text: Homo sapiens

text: Black

text: Male

text: POAG

text: Glaucoma, primary open angle

text: GM22516 male affected Glaucoma, primary open angle sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Epilepsy

text: 2 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: African American

text: Female

text: Epilepsy

text: ND02618 female affected Epilepsy sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Glaucoma, primary open angle

text: 80 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;no family history of glaucoma;osteoarthritis;osteoporosis;hypothyroidism;cataract in left eye;glaucomatous visual field loss in right eye;normal color vision

characteristic: description

text: Homo sapiens

text: Caucasian

text: Female

text: POAG

text: Glaucoma, primary open angle

text: GM22517 female affected Glaucoma, primary open angle sample


text: Coriell

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 63 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: brother

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Intracranial aneurysm - unruptured

text: ND02621 male affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Cranioectodermal dysplasia

text: 14 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;craniosynostosis;hypodontia with conical teeth;sparse scalp hair;hypokalemic metabolic alkalosis;hypoparathyroidism;papilledema

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Cranioectodermal dysplasia

text: GM22519 female affected Cranioectodermal dysplasia sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 71 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 of ND02626

text: spouse

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: ND02627 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 53 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically normal father of an affected child (GM22519)

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Cranioectodermal dysplasia

text: GM22520 male unaffected Cranioectodermal dysplasia sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 86 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse of ND02629

text: spouse

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

text: Male

text: ND02628 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 78 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;diet-controlled diabetes with onset at 71 years of age;arthritis;high cholesterol;past history of smoking: 3 packs a day for 40 years;stopped smoking at age 58;no glaucomatous visual field loss;normal color vision

characteristic: description

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: GM22521 male unaffected Apparently healthy individual with normal visual screening sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Parkinson disease

text: 66 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse is ND02628

characteristic: family id

text: proband

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Parkinsons panel: caucasian from the united states

text: PD

text: Parkinson disease

text: ND02629 female affected Parkinson disease sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 70 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;hypertension;high cholesterol;past history of smoking (1 pack a month for 20 years;stopped smoking at 35 years of age;no glaucomatous visual field loss;normal color vision

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: GM22522 female unaffected Apparently healthy individual with normal visual screening sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Parkinson disease

text: 71 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: ND02632 male affected Parkinson disease sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Glaucoma, primary open angle

text: 63 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;no family history of glaucoma;asthma;past history of smoking - 2 packs a day for 30 years;stopped smoking at 53 years of age;cataracts in both eyes;no glaucomatous visual field loss

text: Homo sapiens

text: Black

text: Male

text: POAG

text: Glaucoma, primary open angle

text: GM22523 male affected Glaucoma, primary open angle sample


text: Coriell

text: live

text: Generic

text: 69 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND02633 female unaffected Neurologically normal caucasian control panel sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: Glaucoma, primary open angle

text: 80 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;no family history of glaucoma;osteoarthritis;restless legs;depression;polycythemia;past history of smoking - 1/2 a pack a day for 35 years;stopped smoking at 45 years of age;glaucomatous visual field loss in both eyes;abnormal color vision

characteristic: description

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: POAG

text: Glaucoma, primary open angle

text: GM22524 male affected Glaucoma, primary open angle sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

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 ND02640

text: proband

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Young onset parkinsons panel: caucasian subjects from north america

text: PD

text: Parkinson disease

text: ND02639 male affected Young onset parkinsons panel: affected individuals sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 79 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;hypertension;hypothyroidism;heart murmur;restless legs;no history of smoking;no glaucomatous visual field loss;normal color vision

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: GM22525 female unaffected Apparently healthy individual with normal visual screening sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Parkinson disease

text: 49 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected mother is ND02642;unaffected brother is ND02643

characteristic: family id

text: proband

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

text: Male

text: Young onset parkinsons dna panel: affected individuals

characteristic: tag

text: PD

text: Parkinson disease

text: ND02641 male affected Parkinson disease sample

characteristic: title


characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Glaucoma, primary open angle

text: 55 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;no family history of glaucoma;hypertension;insulin-dependent diabetes with onset at 54 years of age;no history of smoking;glaucomatous visual field loss in both eyes;normal color vision

text: Homo sapiens

text: Black

text: Male

text: POAG

text: Glaucoma, primary open angle

text: GM22526 male affected Glaucoma, primary open angle sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

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 ND02645

characteristic: description

text: proband

characteristic: gene

text: WILDTYPE for GLY2019

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: ND02644 male affected Young onset parkinsons panel: affected individuals sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: Glaucoma, primary open angle

text: 64 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;brother also affected;hypertension;prostate cancer;cataracts in both eyes;no history of smoking;glaucomatous visual field loss in both eyes;color blind

text: Homo sapiens

text: Black

characteristic: race

text: Male

text: POAG

text: Glaucoma, primary open angle

text: GM22527 male affected Glaucoma, primary open angle sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 63 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected spouse of ND02644

characteristic: family id

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

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: ND02645 female unaffected Population/convenience control sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: Glaucoma, primary open angle

text: 60 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;father;sister;brother;uncle and paternal grandfather are also affected;hypertension;neuropathy in right arm;cataracts in both eyes;past history of smoking - one pack a day for 20 years;stopped smoking at 51 years of age;glaucomatous visual field loss in both eyes;normal color vision

text: Homo sapiens

text: Black

text: Male

text: POAG

characteristic: tag

text: Glaucoma, primary open angle

text: GM22528 male affected Glaucoma, primary open angle sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 65 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse of ND01981

text: spouse

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Control

text: Population/convenience control

text: ND02658 male unaffected Control sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: 65 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;borderline hypertension;arthritis;current smoker - one pack a day for 40 years;cataract in left eye;no glaucomatous visual field loss;normal color vision

characteristic: description

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: GM22542 female unaffected Apparently healthy individual with normal visual screening sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: Parkinson disease

text: 68 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 ND03071

text: proband

characteristic: gene

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: PD

text: Parkinson disease

text: Young onset parkinsons disease: affected individuals

text: ND02660 male affected Parkinson disease sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: Glaucoma, primary open angle

text: 54 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;mother also affected;hypertension;noninsulin-dependent diabetes with onset at 48 years of age;osteoarthritis;obese;no history of smoking;glaucomatous visual field loss in both eyes;normal color vision

text: Homo sapiens

text: Black

text: Female

characteristic: sex

text: POAG

text: Glaucoma, primary open angle

text: GM22543 female affected Glaucoma, primary open angle sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Parkinson disease

text: 75 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse is ND02662

characteristic: family id

text: proband

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

text: Male

text: Young onset parkinsons dna panel: affected individuals

characteristic: tag

text: PD

text: Parkinson disease

text: ND02661 male affected Parkinson disease sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: Glaucoma, primary open angle

text: 67 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;hypertension;noninsulin-dependent diabetes with onset at 67 years of age;coronary artery disease;rheumatoid arthritis;osteoarthritis;migraines;gastroesophageal reflux;high cholesterol;glaucomatous visual field loss in both eyes;normal color vision

text: Homo sapiens

text: Black

text: Male

text: POAG

text: Glaucoma, primary open angle

text: GM22544 male affected Glaucoma, primary open angle sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: 73 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse of ND02661

characteristic: description

text: spouse

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Population/convenience control

text: ND02662 female unaffected Population/convenience control sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 34 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: At risk;currently asymptomatic;serum creatine phosphokinase is 54 U/L;serum bone-specific alkaline phosphatase is 70 U/L;donor subject is heterozygous for a C>T transition at nucleotide 463 in exon 5 of the VCP gene (463C>T) resulting in the substitution of cysteine for arginine at codon 155 Arg155Cys(R155C);see GM22550 Fibroblast

text: daughter

text: VCP

characteristic: gene

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

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

text: IBMPFD

text: VCP

text: Valosin-containing protein

text: GM22549 female unaffected VCP sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Epilepsy

text: 21 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected mother is ND02688

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Epilepsy generalized: caucasian

text: Epilepsy

text: ND02687 female affected Epilepsy sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 34 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: At risk;currently asymptomatic;serum creatine phosphokinase is 54 U/L;serum bone-specific alkaline phosphatase is 70 U/L;donor subject is heterozygous for a C>T transition at nucleotide 463 in exon 5 of the VCP gene (463C>T) resulting in the substitution of cysteine for arginine at codon 155 Arg155Cys(R155C);see GM22549 Lymphoid

characteristic: family id

text: daughter

text: VCP

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: IBMPFD

text: VCP

text: Valosin-containing protein

text: GM22550 female unaffected VCP sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

text: 44 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Affected son is ND02687

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND02688 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: VCP

text: 52 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;myopathy with onset at age 45 years;serum creatine phosphokinase is 255 U/L;serum bone-specific alkaline phosphatase is 85 U/L;donor subject is heterozygous for a C>T transition at nucleotide 463 in exon 5 of the VCP gene (463C>T) resulting in the substitution of cysteine for arginine at codon 155 Arg155Cys(R155C)

characteristic: description

text: proband

text: VCP

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: IBMPFD

text: VCP

text: Valosin-containing protein

text: GM22551 male affected VCP sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 75 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND02690

text: GREEK

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Parkinsons panel: caucasian from the united states

text: PD

text: Parkinson disease

text: ND02689 male affected Parkinson disease sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 33 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: At risk;currently asymptomatic;serum creatine phosphokinase is 97 U/L;serum bone-specific alkaline phosphatase is 74 U/L;donor subject is heterozygous for a C>T transition at nucleotide 463 in exon 5 of the VCP gene (463C>T) resulting in the substitution of cysteine for arginine at codon 155 Arg155Cys(R155C);see GM22554 Fibroblast

text: son

text: VCP

characteristic: gene

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: IBMPFD

text: VCP

text: Valosin-containing protein

text: GM22553 male unaffected VCP sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 70 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND02689

characteristic: family id

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

characteristic: tag

text: ND02690 female unaffected Neurologically normal caucasian control panel sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 33 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: At risk;currently asymptomatic;serum creatine phosphokinase is 97 U/L;serum bone-specific alkaline phosphatase is 74 U/L;donor subject is heterozygous for a C>T transition at nucleotide 463 in exon 5 of the VCP gene (463C>T) resulting in the substitution of cysteine for arginine at codon 155 Arg155Cys(R155C);see GM22553 Lymphoid

characteristic: description

text: son

text: VCP

text: Homo sapiens

text: Caucasian

text: Male

text: IBMPFD

text: VCP

text: Valosin-containing protein

text: GM22554 male unaffected VCP sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: PD

text: 71 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND02692

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: ND02691 male affected PD sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Propionic acidemia

text: 5 MO

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;diagnosed by newborn screen;no family history;normal gut motility;eating by mouth;acute neutropenia;on metabolic formula and levocarnitine;donor subject is a compound heterozygote: one allele has an A>G transition at nucleotide 1606 in exon 15 of the PCCB gene (c.1606A>G) resulting in the substitution of aspartic acid for asparagine at codon 536 Asn536Asp (N536D) and the second allele has a 1 bp deletion (1209+2delT)

text: proband

text: PCCB

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Propionic acidemia

text: GM22555 female affected Propionic acidemia sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 49 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Intracranial aneurysm - unruptured

text: ND02703 female affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 22 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal mother of an affected child (GM22555)

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Propionic acidemia

characteristic: tag

text: GM22556 female unaffected Propionic acidemia sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Intracranial aneurysm - unruptured

text: 57 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Intracranial aneurysm unruptured: caucasian

text: Intracranial aneurysm - unruptured

text: ND02704 male affected Intracranial aneurysm - unruptured sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 24 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal father of an affected child (GM22555)

characteristic: description

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Propionic acidemia

text: GM22557 male unaffected Propionic acidemia sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Intracranial aneurysm - unruptured

text: 55 YR

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Intracranial aneurysm - unruptured

text: ND02706 male affected Intracranial aneurysm - unruptured sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Glaucoma, primary open angle

text: 73 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;sister is also affected;retinal tear;hypertension;past history of smoking - 2 packs a day for 27 years;stopped at 38 years of age;glaucomatous visual field loss in right eye;normal color vision

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: POAG

text: Glaucoma, primary open angle

text: GM22558 male affected Glaucoma, primary open angle sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 63 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Intracranial aneurysm - unruptured

text: ND02707 female affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Glaucoma, primary open angle

text: 62 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;no family history of glaucoma;osteomyelitis - below the knee amputee both legs;current smoker - 1 pack every two days for 40 years;glaucomatous visual field loss in right eye;color blind

text: Homo sapiens

text: Black

text: Male

text: POAG

characteristic: tag

text: Glaucoma, primary open angle

text: GM22559 male affected Glaucoma, primary open angle sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Parkinson disease

text: 90 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected daughter is ND02709

characteristic: family id

text: proband

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: PD

text: Parkinson disease

text: ND02708 female affected Parkinson disease sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 39 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically normal mother of affected monozygotic twins (GM22227 and GM22256);see GM23151 Fibroblast;donor subject has a 1 bp deletion in exon 12 of the NPC1 gene (1920delG)

characteristic: description

text: HUNGARIAN/IRISH

characteristic: ethnicity

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Npc1 gene

text: Niemann-pick disease type c1

text: GM22566 female unaffected NPC1 sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 57 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse is ND02711

text: proband

text: WILDTYPE for GLY2019

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Young onset parkinsons panel: caucasian subjects from north america

text: PD

text: Parkinson disease

text: ND02710 male affected Young onset parkinsons panel: affected individuals sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

text: 50 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically normal father of affected monozygotic twins (GM22227 and GM22256);see GM23152 Fibroblast;donor subject is heterozygous for a missense mutation: IVS9-1009G>A

text: SCOTTISH/IRISH

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Npc1 gene

characteristic: tag

text: Niemann-pick disease type c1

text: GM22567 male unaffected NPC1 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: PD

text: 72 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: proband

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinsons panel: caucasian from north america

text: Late onset parkinsons dna panel: affected individuals

text: PD

text: Parkinson disease

text: ND02712 male affected PD sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 67 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically normal maternal grandmother of affected monozygotic twins (GM22227 and GM22256);donor subject has a 1 bp deletion in exon 12 of the NPC1 gene (1920delG;see fibroblast GM23945;high cholesterol;high blood pressure;minor heart attack all developing at 49 years old;heart valve replacement at 69 years;astigmatism;gallblader removal;subject's mother had psychological issue and gallstones/gallbladder removal;subject's father had heart and lung issues

characteristic: description

text: HUNGARIAN

text: maternal grandmother

text: Homo sapiens

text: Caucasian

text: Female

text: Npc1 gene

text: Niemann-pick disease type c1

text: GM22568 female unaffected NPC1 sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 71 YR

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND02713 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

text: 18 MO

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: 46;XX;del(1)(qter>p36.3:) .ish del(1)(CEB108/T7-;SKI-;D1S3739+).arr 1p36.33p36.31 (CN_524192>SNP_A-8452254)X1;46;XX;del(1)(qter>p36.3:) .ish del(1)(SKI-;D1S3739+).arr cgh 1p36.33p36.31 (CN_524192>SNP_A-8452254)X1;

characteristic: karyotype

text: Homo sapiens

text: Hispanic/Latino

characteristic: race

text: Female

text: Chromosome deletion

text: Chromosome 1p36 deletion syndrome

text: GM22569 female unaffected Chromosome 1p36 deletion syndrome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Parkinson disease

text: 67 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse is ND02715

characteristic: family id

text: proband

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Parkinsons panel: caucasian from the united states

characteristic: tag

text: PD

text: Parkinson disease

text: ND02714 male affected Parkinson disease sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Glaucoma, primary open angle

text: 54 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;father;uncle and paternal grandfather are also affected;hypertension;sarcoidosis;no history of smoking;cataracts in both eyes;glaucomatous visual field loss in both eyes;normal color vision

characteristic: description

text: Homo sapiens

text: Black

text: Male

text: POAG

text: Glaucoma, primary open angle

text: GM22570 male affected Glaucoma, primary open angle sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 63 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse of ND02714

text: spouse

text: WILDTYPE for GLY2019

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Control

text: Population/convenience control

text: Neurologically normal caucasian control panel

text: ND02715 female unaffected Control sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 12 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Autistic

text: 46;XY;dup(15)(pter->q12::q11->qter).arr 15q11.2q13.1(21192943-26500067)x3

characteristic: karyotype

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Duplicated chromosome

text: GM22571 male affected Chromosome 15q11-q13 duplication syndrome sample


text: Coriell

text: live

text: Generic

text: Epilepsy

text: 5 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Epilepsy

characteristic: tag

text: ND02719 female affected Epilepsy sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 1 DA

characteristic: age

characteristic: cell line

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 GM22577 (fibroblast)

text: proband

text: 45;XY;-9 2 /46;XY 48

text: Homo sapiens

text: Black

text: Male

text: Apparently healthy non-fetal tissue

text: Multiple cell types from same subject - foreskin

text: GM22575 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 41 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND02729 female affected Intracranial aneurysm - unruptured sample

characteristic: title


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;another culture from this same donor is GM22575 (melanocyte)

characteristic: description

text: proband

text: Homo sapiens

text: Black

text: Male

text: Apparently healthy non-fetal tissue

text: GM22577 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Subarachnoid hemorrhage

text: 46 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Subarachnoid hemorrhage

text: ND02730 female affected Subarachnoid hemorrhage sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: VCP

text: 54 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;myopathy with onset at age 48 years;Paget disease with onset at age 45;serum creatine phosphokinase is 203 U/L;serum bone-specific alkaline phosphatase is 75 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)

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: GM22578 female affected VCP sample


text: Coriell

text: live

text: Generic

text: Epilepsy

text: 13 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother is ND02743

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Epilepsy generalized: caucasian

characteristic: tag

text: Epilepsy

text: ND02742 female affected Epilepsy sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 40 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically normal;serum creatine phosphokinase is 89 U/L;serum bone-specific alkaline phosphatase is 62 U/L;sister of GM21751

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: IBMPFD

text: GM22580 female unaffected Inclusion body myopathy with early-onset paget disease and frontotemporal dementia sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 38 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother of ND02742

characteristic: description

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND02743 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

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Propionic acidemia

text: 9 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;no family history;failure to thrive;acute pancreatitis;port-a-cath in place;normal gut motility;fed by G-tube;infrequent vomiting;basal ganglia damage;acute neutropenia;acute anemia;immunodeficiency treated with IVIG;acutely low platelets;broken arm;short stature;began walking at 2 years of age;began talking at 3.5 years of age;language significantly below age level;cognitive ability moderately impaired;episodes of ketoacidosis once a week or more;chronic hyperammonemia <2 times normal;currently on metabolic formula;donor subject is a compound heterozygote: one allele has a 1 bp deletion at nucleotide 418 of the PCCA gene (c.418delC) resulting in a frameshift (H140fs) and the second allele has a 3 bp deletion at nucleotide 1593 in exon 18 (1593_1595delATT) resulting in a frameshift and stop at codon Leu532

text: PCCA

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: PCCA

text: Propionic acidemia

text: Propionyl-coa carboxylase alpha subunit

text: GM22581 female affected Propionic acidemia sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Parkinson disease

text: 66 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Parkinsons panel: caucasian from the united states

text: PD

text: Parkinson disease

text: ND02744 female affected Parkinson disease sample


text: Coriell

text: live

text: Generic

text: 68 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;asthma;osteoarthritis;low blood pressure;high cholesterol;no history of smoking;no glaucomatous visual field loss

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

characteristic: tag

text: GM22587 female unaffected Apparently healthy individual with normal visual screening sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Dementia with lewy bodies

text: 75 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND02747

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Dementia with lewy bodies

text: ND02746 male affected Dementia with lewy bodies sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Glaucoma, primary open angle

text: 95 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;no family history of glaucoma;rheumatoid and osteoarthritis;deaf;no history of smoking;glaucomatous visual field loss in both eyes;normal color vision

text: Homo sapiens

text: Black

text: Female

text: POAG

text: Glaucoma, primary open angle

text: GM22588 female affected Glaucoma, primary open angle sample


text: Coriell

text: live

text: Generic

text: 75 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND02746

characteristic: description

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: Neurologically normal caucasian control panel

text: ND02747 female unaffected Control panel for late onset parkinsons: unaffected individuals sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 3 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Autistic

text: 46;XX.arr 15q11.2q13.1(21192943-26213571)x3

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Duplicated chromosome

text: GM22593 female unaffected Chromosome 15q11-q13 duplication syndrome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: PD

text: 68 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND02751

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: ND02750 male affected PD sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 76 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;hypothyroidism;high cholesterol;gastroesophageal reflux;no history of smoking;cataracts in both eyes;no glaucomatous visual field loss;normal color vision

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: GM22594 male unaffected Apparently healthy individual with normal visual screening sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 59 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND02750

characteristic: family id

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Population/convenience control

characteristic: tag

text: ND02751 female unaffected Neurologically normal caucasian control panel sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Exfoliation syndrome

text: 73 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;high cholesterol;gastroesophageal reflux;past history of smoking - 1/2 a pack a week;stopped at age 71 years;glaucomatous visual field loss in left eye;normal color vision

text: Homo sapiens

text: Caucasian

text: Female

text: XFS

text: Exfoliation syndrome

text: GM22595 female affected Exfoliation syndrome sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 61 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse is ND02756

characteristic: description

text: proband

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Young onset parkinsons panel: caucasian subjects from north america

text: PD

text: Parkinson disease

text: ND02755 male affected Young onset parkinsons panel: affected individuals sample

characteristic: title


characteristic: DNA id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Glaucoma, primary open angle

text: 66 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;mother and maternal grandfather are also affected;mitral valve prolapse;benign prostate hypertrophy;no history of smoking;cataracts in both eyes;glaucomatous visual field loss in both eyes;normal color vision

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: POAG

text: Glaucoma, primary open angle

text: GM22596 male affected Glaucoma, primary open angle sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 56 YR

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 of ND02755

characteristic: family id

text: spouse

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Population/convenience control

text: ND02756 female unaffected Population/convenience control sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Glaucoma, primary open angle

text: 49 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;no family history of glaucoma;hypertension;diet-controlled noninsulin-dependent diabetes with onset at 46 years of age;arthritis;cataracts in both eyes;past history of smoking - 2 packs a day for 14 years;stopped at age 32;glaucomatous visual field loss in both eyes;total color blindness

text: Homo sapiens

text: Caucasian

text: Male

text: POAG

characteristic: tag

text: Glaucoma, primary open angle

text: GM22597 male affected Glaucoma, primary open angle sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: PD

text: 63 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse is ND02760

characteristic: description

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: ND02759 male affected PD sample


characteristic: DNA id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Glaucoma, primary open angle

text: 66 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;no family history of glaucoma;cataracts in both eyes;past history of smoking - 1 pack a day for 10 years;stopped at age 26;glaucomatous visual field loss in both eyes;normal color vision

text: Homo sapiens

text: Caucasian

text: Male

text: POAG

text: Glaucoma, primary open angle

text: GM22598 male affected Glaucoma, primary open angle sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 60 YR

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 of ND02759

characteristic: family id

text: spouse

text: WILDTYPE for GLY2019

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Population/convenience control

text: ND02760 female unaffected Neurologically normal caucasian control panel sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: VCP

text: 32 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;Paget disease;serum creatine phosphokinase is 72 U/L;serum bone-specific alkaline phosphatase is 75 U/L;radiographs showed diffuse thickening with sclerosis of the calvarium and widening of the diploic space and also osteolytic changes in the parietal bone of the skull;lumbar scoliosis;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);affected brother is GM22368;see GM22600 Fibroblast

text: sister

text: VCP

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

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

text: IBMPFD

text: VCP

text: Valosin-containing protein

text: GM22599 female affected VCP sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 59 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Intracranial aneurysm - unruptured

characteristic: tag

text: ND02765 male affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: VCP

text: 32 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;Paget disease;serum creatine phosphokinase is 72 U/L;serum bone-specific alkaline phosphatase is 75 U/L;radiographs showed diffuse thickening with sclerosis of the calvarium and widening of the diploic space and also osteolytic changes in the parietal bone of the skull;lumbar scoliosis;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);affected brother is GM22369;see GM22599 Lymphoid

characteristic: description

text: sister

text: VCP

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: IBMPFD

text: VCP

text: Valosin-containing protein

text: GM22600 female affected VCP sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Parkinson disease

text: 62 YR

text: B-Lymphocyte

text: NINDS Repository

text: WELSH

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: ND02770 male affected Parkinson disease sample

characteristic: title


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: WHS

text: 3 MO

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Typical facial dysmorphia;hypospadius;ectrodactyly (left upper extremity)

text: 46;XY;del(4)(:p15->qter).arr 4p16.3p15.2(55665-25591051)x1;46;XY;del(4)(pter>p15::p15>qter);46;XY;del(4)(qter>p15.1:).ish del(4)(D4S3359-;WHSCR-;CEP4+) .arr 4p16.3p15.2 (CN_1049870>CN_1057692)x1

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Hispanic/Latino

characteristic: race

text: Male

text: WHS

text: Wolf-hirschhorn syndrome

text: Copy number variation (cnv) reference panel

text: Chromosome deletion

text: GM22601 male affected WHS sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Parkinson disease

text: 87 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: WELSH

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Parkinson disease

text: ND02771 female affected Parkinson disease sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Glaucoma, primary open angle

text: 78 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;no family history of glaucoma;hypertension;rheumatoid arthritis;high cholesterol;past history of smoking - 1 1/4 packs a day for 6 years;stopped at age 43;cataract in right eye;glaucomatous visual field loss in right eye;abnormal red-green color vision

characteristic: description

text: Homo sapiens

text: Black

text: Male

text: POAG

characteristic: tag

text: Glaucoma, primary open angle

text: GM22602 male affected Glaucoma, primary open angle sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: Intracranial aneurysm - unruptured

text: 61 YR

text: B-Lymphocyte

text: NINDS Repository

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Intracranial aneurysm - unruptured

text: ND02794 male affected Intracranial aneurysm - unruptured sample

characteristic: title


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 62 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;hypertension;asthma;high cholesterol;no history of smoking;cataracts in both eyes;no glaucomatous visual field loss;normal color vision

text: Homo sapiens

characteristic: organism

text: Black

text: Female

text: GM22603 female unaffected Apparently healthy individual with normal visual screening sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Epilepsy

text: 48 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Epilepsy

text: Epilepsy, focal: caucasian

text: ND02795 male affected Epilepsy sample


text: Coriell

text: live

text: Generic

text: Cleft palate, isolated

text: 4 MO

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Isolated cleft of the secondary palate;segregates as autosomal dominant in three generations

text: Homo sapiens

text: Caucasian

text: Female

text: Cleft palate, isolated

text: CPI

text: GM22604 female affected Cleft palate, isolated sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 58 YR

text: B-Lymphocyte

text: NINDS Repository

text: asymptomatic sibling of ND02795;an epilepsy proband

characteristic: family id

text: sister

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: ND02796 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: Glaucoma, primary open angle

text: 69 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;mother also affected;arthritis;past history of smoking - 2 to 3 packs per week for 20 years;stopped smoking at 49 years of age;glaucomatous visual field loss in both eyes;total color blindness

characteristic: description

text: Homo sapiens

text: Black

text: Male

text: POAG

text: Glaucoma, primary open angle

text: GM22605 male affected Glaucoma, primary open angle sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 66 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse is ND02799

text: proband

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Young onset parkinsons panel: caucasian subjects from north america

characteristic: tag

text: PD

text: Parkinson disease

text: ND02798 female affected Young onset parkinsons panel: affected individuals sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Glaucoma, primary open angle

text: 63 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;mother and brother also affected;hypertension;osteoarthritis;migraines;osteoporosis;hip replacement;obese;cataracts in both eyes;past history of smoking - 3 cigarettes per day for 3 1/2 years;stopped at 34 years of age;glaucomatous visual field loss in right eye;normal color vision

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: POAG

text: Glaucoma, primary open angle

text: GM22634 female affected Glaucoma, primary open angle sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 65 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected spouse of ND02798

text: spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Control

text: Population/convenience control

text: ND02799 male unaffected Control sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 69 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;noninsulin-dependent diabetes with onset at 65 years of age;coronary artery disease;arthritis;cataracts in both eyes;past history of smoking - 6 packs per week for 16 years;stopped at 33 years of age;no glaucomatous visual field loss;normal color vision

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: GM22635 male unaffected Apparently healthy individual with normal visual screening sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 64 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene;unaffected spouse of ND06918

characteristic: description

characteristic: family id

text: spouse

characteristic: gene

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

text: Female

text: Control

text: Population/convenience control

text: ND02801 female unaffected Control sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Glaucoma, primary open angle

text: 73 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;no family history of glaucoma;arthritis;high cholesterol;low red blood cell count;benign prostate hypertrophy;past history of smoking - 7 packs per week for 20 years;stopped at 33 years of age;cataracts in both eyes;glaucomatous visual field loss in right eye;normal color vision

text: Homo sapiens

text: Caucasian

text: Male

text: POAG

characteristic: tag

text: Glaucoma, primary open angle

text: GM22637 male affected Glaucoma, primary open angle sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Parkinson disease

text: 52 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND02810

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: PD

text: Parkinson disease

text: Young onset parkinsons disease: affected individuals

text: ND02809 female affected Parkinson disease sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Glaucoma, primary open angle

text: 72 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;mother;sister and four brothers are also affected;hypertension;osteoarthritis;high cholesterol;past history of smoking - less than 1 pack per day for 54 years;stopped at 67 years of age;cataracts in both eyes;glaucomatous visual field loss in both eyes;normal color vision

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: POAG

text: Glaucoma, primary open angle

text: GM22639 female affected Glaucoma, primary open angle sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 52 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND02809

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Population/convenience control

text: Neurologically normal caucasian control panel

text: ND02810 male unaffected Control panel for young onset parkinsons: unaffected individuals sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 55 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;other lymphoblast cell cultures from this same individual are GM22642;GM22643;GM22644 and GM22645

characteristic: description

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Multiple cell lines from same subject - ebv transformed b lymphocyte

text: Apparently healthy non-fetal tissue

text: GM22641 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: PD

text: 71 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected daughter is ND02812

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Parkinsons panel: caucasian from the united states

text: PD

text: Parkinson disease

text: ND02811 female affected PD sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 55 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;other lymphoblast cell cultures from this same individual are GM22641;GM22643;GM22644 and GM22645

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: Apparently healthy non-fetal tissue

text: GM22642 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

text: Generic

text: 34 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected daughter of ND02811

text: daughter

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND02812 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: 55 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically normal;other lymphoblast cell cultures from this same individual are GM22641;GM22642;GM22644 and GM22645

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Apparently healthy non-fetal tissue

text: GM22643 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: Multiple system atrophy

text: 83 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Striatal nigral degeneration

text: Multiple system atrophy

text: ND02813 female affected Multiple system atrophy sample


text: Institute for Genome Sciences University of MD School of Medicine

characteristic: INSDC secondary accession

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

characteristic: SRA accession

text: Escherichia coli ARS4.2123

characteristic: strain

text: Escherichia coli ARS4.2123


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 55 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;other lymphoblast cell cultures from this same individual are GM22641;GM22642;GM22643 and GM22645

characteristic: description

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Apparently healthy non-fetal tissue

text: GM22644 male unaffected Apparently healthy non-fetal tissue sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 80 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

characteristic: tag

text: ND02814 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: 55 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically normal;other lymphoblast cell cultures from this same individual are GM22641;GM22642;GM22643 and GM22644

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Apparently healthy non-fetal tissue

text: GM22645 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Dementia with lewy bodies

text: 69 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: African American

text: Male

text: Dementia with lewy bodies

text: ND02815 male affected Dementia with lewy bodies sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 26 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;other lymphoblast cell cultures from this same individual are GM22648;GM22649;GM22650 and GM22651

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Apparently healthy non-fetal tissue

text: GM22647 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

text: Generic

text: Progressive supranuclear palsy

text: 79 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Progressive supranuclear palsy

text: ND02817 female affected Progressive supranuclear palsy sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 26 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;other lymphoblast cell cultures from this same individual are GM22647;GM22649;GM22650 and GM22651

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Multiple cell lines from same subject - ebv transformed b lymphocyte

text: Apparently healthy non-fetal tissue

text: GM22648 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 75 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected daughter is ND02821;unaffected spouse is ND02820

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Parkinsons panel: caucasian from north america

characteristic: tag

text: PD

text: Parkinson disease

text: ND02819 female affected Parkinson disease sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: 26 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;other lymphoblast cell cultures from this same individual are GM22647;GM22648;GM22650 and GM22651

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Apparently healthy non-fetal tissue

text: GM22649 male unaffected Apparently healthy non-fetal tissue sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 84 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected spouse of ND02819;unaffected daughter is ND02821

text: spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Population/convenience control

text: Neurologically normal caucasian control panel

text: ND02820 male unaffected Dna control panel for late onset parkinsons: unaffected individuals sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 26 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;other lymphoblast cell cultures from this same individual are GM22647;GM22648;GM22649 and GM22651

text: proband

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Apparently healthy non-fetal tissue

text: GM22650 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Epilepsy

text: 28 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected mother is ND02836

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Epilepsy generalized: caucasian

text: Epilepsy

text: ND02835 female affected Epilepsy sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 26 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;other lymphoblast cell cultures from this same individual are GM22647;GM22648;GM22649 and GM22650

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Apparently healthy non-fetal tissue

text: GM22651 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: 53 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother of ND02835

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: tag

text: ND02836 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 53 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically normal;slight hypertension;osteoarthritis;slightly elevated cholesterol;back surgery for herniated discs;past history of smoking: 2 packs a day for 13 years;stopped at age 28;no glaucomatous visual field loss;normal color vision

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: GM22652 female unaffected Apparently healthy individual with normal visual screening sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 64 YR

text: B-Lymphocyte

text: NINDS Repository

text: Mother of ND01117;unaffected spouse is ND02838

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND02837 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 80 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;cataracts in both eyes;arthritis;high cholesterol;osteoporosis;heart problem;no history of smoking;no glaucomatous visual field loss;normal color vision

text: Homo sapiens

text: Caucasian

text: Female

text: GM22653 female unaffected Apparently healthy individual with normal visual screening sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 67 YR

text: B-Lymphocyte

text: NINDS Repository

text: Father of ND01117;unaffected spouse is ND02837

characteristic: family id

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: ND02838 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Glaucoma, primary open angle

text: 76 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;mother also affected;cataracts in both eyes;hypertension;osteoarthritis;high cholesterol;polymyalgia;rheumatasis;fibromyalgia;no history of smoking;glaucomatous visual field loss in right eye;normal color vision

characteristic: description

text: Homo sapiens

text: Caucasian

text: Female

text: POAG

text: Glaucoma, primary open angle

text: GM22654 female affected Glaucoma, primary open angle sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: Epilepsy

text: 20 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother is ND02840;unaffected father is ND02921

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Epilepsy generalized: caucasian

text: Epilepsy

text: ND02839 male affected Epilepsy sample


text: Coriell

text: live

text: Generic

text: Glaucoma, primary open angle

text: 78 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;father is also affected;high cholesterol;past history of smoking - 1 pack a day for 32 years;stopped at age 53;glaucomatous visual field loss in both eyes;total colorblindness

text: Homo sapiens

text: Caucasian

text: Male

text: POAG

characteristic: tag

text: Glaucoma, primary open angle

text: GM22655 male affected Glaucoma, primary open angle sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 48 YR

text: B-Lymphocyte

text: NINDS Repository

text: Affected son is ND02839;unaffected spouse is ND02921

text: mother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: ND02840 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title