characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: Glaucoma, primary open angle

text: 70 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;mother and father are also affected;hypertension;noninsulin-dependent diabetes with onset at 70 years of age;coronary artery disease;myocardial infarction;borderline COPD;arthritis;gout;gastroesophageal reflux;past history of smoking - 2 to 3 packs per day for 16 years;stopped at age 40;glaucomatous visual field loss in left eye;normal color vision

text: Homo sapiens

text: Caucasian

text: Male

text: POAG

text: Glaucoma, primary open angle

text: GM22656 male affected Glaucoma, primary open angle sample


status: PUBLIC

characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: PD

tag: attribute

text: 70 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

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

characteristic: description

characteristic: family id

text: proband

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Parkinsons panel: caucasian from the united states

characteristic: tag

text: PD

text: Parkinson disease

text: ND02845 male affected PD sample

characteristic: title


characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: 52 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;cataracts in both eyes;past history of smoking - 1 pack a day for 6 years;stopped at age 22 years;no glaucomatous visual field loss;normal color vision

text: Homo sapiens

text: Caucasian

text: Female

text: GM22657 female unaffected Apparently healthy individual with normal visual screening sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Parkinson disease

text: 73 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse is ND02853

text: proband

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: ND02852 male affected Parkinson disease sample


text: Coriell

text: live

text: Generic

text: Glaucoma, primary open angle

text: 60 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;no family history of glaucoma;hypertension;noninsulin-dependent diabetes with onset at 44 years of age;hypothyroidism;high cholesterol;cataracts in both eyes;diabetic retinopathy in both eyes;no history of smoking;glaucomatous visual field loss in left eye;normal color vision

characteristic: description

text: Homo sapiens

text: Black

text: Female

text: POAG

text: Glaucoma, primary open angle

text: GM22658 female affected Glaucoma, primary open angle sample


text: Coriell

text: live

text: Generic

text: 70 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse of ND02852

characteristic: family id

text: spouse

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Population/convenience control

text: ND02853 female unaffected Population/convenience control sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Collagen type xi alpha-1

text: 3 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;myopia (legally blind);hypertelorism;conductive hearing loss;uses hearing aids;affected mother is GM22786;donor subject is heterozygous for an IVS50+1G>A splice site mutation in the COL11A1 gene

text: AFRICAN-AMERICAN

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Black

text: Male

characteristic: sex

characteristic: tag

text: Marshall syndrome

text: Collagen type xi alpha-1

text: GM22659 male affected Collagen type xi alpha-1 sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: Parkinson disease

text: 77 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse is ND02855

text: proband

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

text: Female

text: PD

text: Parkinson disease

text: ND02854 female affected Parkinson disease sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 37 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: At risk;currently asymptomatic;depression;serum creatine phosphokinase is 56 U/L;serum bone-specific alkaline phosphatase is 63 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);see GM22661 Fibroblast

text: cousin

text: VCP

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: GM22660 female unaffected VCP sample


text: Coriell

text: live

text: Generic

text: 79 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse of ND02854

characteristic: description

characteristic: family id

text: spouse

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Population/convenience control

text: ND02855 male unaffected Population/convenience control sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 37 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: At risk;currently asymptomatic;depression;serum creatine phosphokinase is 56 U/L;serum bone-specific alkaline phosphatase is 63 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);see GM22660 Lymphoid

text: cousin

text: VCP

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

characteristic: tag

text: IBMPFD

text: VCP

text: Valosin-containing protein

text: GM22661 female unaffected VCP sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: PD

text: 65 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse is ND02857

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: ND02856 male affected PD 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: 71 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;no family history of glaucoma;hypertension;arthritis;high cholesterol;aortic valve replacement;black lung-related partial left lung removal;past history of smoking - 1 pack a day for 10 years;stopped at age 46;cataract in right eye;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: GM22663 male affected Glaucoma, primary open angle sample


text: Coriell

text: live

text: Generic

text: 57 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse of ND02856

characteristic: description

characteristic: family id

text: spouse

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

text: Female

text: ND02857 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Glaucoma, primary open angle

text: 61 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;maternal grandmother also affected;high cholesterol;cataracts in both eyes;current smoker - less than 1 pack a day for 40 years;glaucomatous visual field loss in both eyes;normal color vision

text: Homo sapiens

characteristic: organism

text: Black

characteristic: race

text: Female

text: POAG

text: Glaucoma, primary open angle

text: GM22664 female affected Glaucoma, primary open angle sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Parkinson disease

text: 83 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected daughter is ND02859

text: proband

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

characteristic: tag

text: PD

text: Parkinson disease

text: ND02858 female affected Parkinson disease sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 65 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;hypertension;osteoarthritis;cardiac arrhythmia;high cholesterol;past history of smoking - stopped at age 24;no glaucomatous visual field loss;normal color vision

text: Homo sapiens

text: Black

text: Male

text: GM22665 male 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: Glaucoma, primary open angle

text: 70 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;two brothers and a sister are also affected;hypertension;noninsulin-dependent diabetes with onset at 70 years of age;myocardial infarction;arthritis;high cholesterol;bone spurs in both feet;past history of smoking - 1 pack a day for 17 years;stopped at age 50;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: GM22666 male affected Glaucoma, primary open angle sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Glaucoma, primary open angle

text: 56 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;no family history of glaucoma;hypertension;high cholesterol;no history of smoking;glaucomatous visual field loss in right eye;normal color vision

characteristic: description

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: POAG

text: Glaucoma, primary open angle

text: GM22667 female affected Glaucoma, primary open angle sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 53 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected daughter of ND02858

characteristic: family id

text: daughter

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: ND02859 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: Glaucoma, primary open angle

text: 70 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;cataracts in both eyes;past history of smoking - 2 cigars a day for 1 and 1/2 years;stopped at age 65;glaucomatous visual field loss in both eyes;normal color vision

text: Homo sapiens

text: Black

text: Male

characteristic: sex

text: POAG

characteristic: tag

text: Glaucoma, primary open angle

text: GM22668 male affected Glaucoma, primary open angle sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 83 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND02862

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Essential tremor-movement disorder

text: PD

text: Parkinson disease

text: ND02861 male affected Parkinsons panel: caucasian from the united states sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Glaucoma, primary open angle

text: 74 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;brother also affected;hypertension;osteoarthritis;past history of smoking - 5 packs per week for 1 year;stopped at age 25;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: GM22669 female affected Glaucoma, primary open angle sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 75 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected spouse of ND02861

text: spouse

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: Neurologically normal caucasian control panel

text: ND02862 female unaffected Population/convenience control sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 28 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically normal;other lymphoblast cell cultures from this same individual are GM22672;GM22673;GM22674 and GM22675

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Female

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

text: Apparently healthy non-fetal tissue

text: GM22671 female unaffected Apparently healthy non-fetal tissue sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Restless leg syndrome

text: 62 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND02864

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Male

text: Essential tremor-movement disorder

text: PD

text: Restless leg syndrome

text: Parkinson disease

text: ND02863 male affected Restless leg syndrome sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 28 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;other lymphoblast cell cultures from this same individual are GM22671;GM22673;GM22674 and GM22675

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Apparently healthy non-fetal tissue

text: GM22672 female unaffected Apparently healthy non-fetal tissue sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 58 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND02863

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: Population/convenience control

text: ND02864 female unaffected Population/convenience control sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 28 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;other lymphoblast cell cultures from this same individual are GM22671;GM22672;GM22674 and GM22675

text: proband

text: 45;X 36 /46;XX 14 .arr Xp22.33q28(320107-154843251)x1~2;6p22.2p22.1(25947507-26419300)x3

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Apparently healthy non-fetal tissue

text: GM22673 female unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 82 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Subarachnoid hemorrhage

text: ND02866 female affected Subarachnoid hemorrhage sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 28 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically normal;other lymphoblast cell cultures from this same individual are GM22671;GM22672;GM22673 and GM22675

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Apparently healthy non-fetal tissue

text: GM22674 female unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

text: Generic

text: Epilepsy

text: 10 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother is ND02868;unaffected father is ND02869

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Epilepsy generalized: caucasian

text: Epilepsy

text: ND02867 male affected Epilepsy sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 28 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;other lymphoblast cell cultures from this same individual are GM22671;GM22672;GM22673 and GM22674

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Apparently healthy non-fetal tissue

text: GM22675 female unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 35 YR

text: B-Lymphocyte

text: NINDS Repository

text: Affected son is ND02867;unaffected spouse is ND02869

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND02868 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 64 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;other lymphoblast cell cultures from this same individual are GM22678;GM22679;GM22680 and GM22681

text: proband

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

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

text: Apparently healthy non-fetal tissue

text: GM22677 female unaffected Apparently healthy non-fetal tissue sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 46 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Affected son is ND02867;unaffected spouse is ND02868

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND02869 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 64 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;other lymphoblast cell cultures from this same individual are GM22677;GM22679;GM22680 and GM22681

characteristic: description

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Apparently healthy non-fetal tissue

text: GM22678 female unaffected Apparently healthy non-fetal tissue sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Parkinson disease

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 is ND02894

text: proband

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Parkinsons panel: caucasian from the united states

text: PD

text: Parkinson disease

text: ND02893 female affected Parkinson disease sample


characteristic: DNA id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 64 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;other lymphoblast cell cultures from this same individual are GM22677;GM22678;GM22680 and GM22681

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: Apparently healthy non-fetal tissue

text: GM22679 female unaffected Apparently healthy non-fetal tissue sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 58 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Intracranial aneurysm - unruptured

text: ND02901 male affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

text: Generic

text: 64 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;other lymphoblast cell cultures from this same individual are GM22677;GM22678;GM22679 and GM22681

characteristic: description

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Apparently healthy non-fetal tissue

text: GM22680 female unaffected Apparently healthy non-fetal tissue sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 55 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Intracranial aneurysm - unruptured

text: ND02907 female affected Intracranial aneurysm - unruptured sample


characteristic: DNA id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 64 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;other lymphoblast cell cultures from this same individual are GM22677;GM22678;GM22679 and GM22680

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Apparently healthy non-fetal tissue

text: GM22681 female unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Intracranial aneurysm - unruptured

text: 46 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm unruptured: caucasian

characteristic: tag

text: Intracranial aneurysm - unruptured

text: ND02908 female affected Intracranial aneurysm - unruptured sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Glaucoma, primary open angle

text: 69 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;mother also affected;high cholesterol;arthritis;cataract in left eye;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: GM22682 female affected Glaucoma, primary open angle sample


text: Coriell

text: live

text: Generic

text: 49 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Affected son is ND02839;unaffected spouse is ND02840

characteristic: description

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND02921 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 56 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;hypertension;slipped disc;past history of smoking - 3 packs a week for 30 years;stopped smoking at age 53;no glaucomatous visual field loss;normal color vision

text: Homo sapiens

characteristic: organism

text: Black

characteristic: race

text: Female

text: GM22683 female unaffected Apparently healthy individual with normal visual screening sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 52 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Intracranial aneurysm - unruptured

text: ND02923 male affected Intracranial aneurysm - unruptured sample

characteristic: title


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Glaucoma, primary open angle

text: 68 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;mother also affected;hypertension;rheumatoid arthritis;current and past history of smoking - 2 packs per week for 1 year (restarted after stopping at age 62) making a total of 40 years of smoking;cataracts in both eyes;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: GM22684 female affected Glaucoma, primary open angle sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 8 YR

text: B-Lymphocyte

text: NINDS Repository

text: Affected sister is ND01284;daughter of ND01285

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: ND02924 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 75 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

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

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: GM22688 female unaffected Apparently healthy individual with normal visual screening sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Dementia with lewy bodies

text: 78 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected son is ND02926

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Dementia with lewy bodies

text: ND02925 female affected Dementia with lewy bodies sample


text: Coriell

text: live

text: Generic

text: 53 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically normal;hypertension;over active bladder;past history of smoking - 1 pack per week for 35 years;stopped at age 51;cataracts in both eyes;no glaucomatous visual field loss;normal color vision

characteristic: description

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: GM22699 male unaffected Apparently healthy individual with normal visual screening sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 58 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: son

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: ND02926 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 60 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

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

text: Homo sapiens

text: Caucasian

text: Male

text: GM22700 male unaffected Apparently healthy individual with normal visual screening sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Neurodegenerative overlap syndrome

text: 79 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Neurodegenerative overlap syndrome

text: Parkinsonism, other

text: ND02928 male affected Neurodegenerative overlap syndrome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Propionic acidemia

text: 6 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;diagnosed at age 2 weeks;no family history;acute pancreatitis;normal gut motility;g-tube for eating;infrequent vomiting;acute neutropenia;acute low platelets;walked at age 2 years;talked at age 3 years;language significantly below age level;IQ at age 5 years = 96;episodes of ketoacidosis;chronic hyperammonemia with twice normal levels;on metabolic formula and levocarnitine

text: SPANISH/MEXICAN

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Hispanic/Latino

text: Male

text: Propionic acidemia

text: GM22703 male affected Propionic acidemia sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Parkinson disease

text: 76 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse is ND02959

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

characteristic: tag

text: PD

text: Parkinson disease

text: ND02958 male affected Parkinson disease sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 40 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically normal mother of an affected child (GM22703)

characteristic: description

text: SPANISH

characteristic: family id

text: mother

text: Homo sapiens

characteristic: organism

text: Hispanic/Latino

characteristic: race

text: Female

text: Propionic acidemia

text: GM22704 female unaffected Propionic acidemia sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

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 ND02958

text: spouse

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: ND02959 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 41 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal father of an affected child (GM22703)

text: MEXICAN

characteristic: ethnicity

text: father

text: Homo sapiens

text: Hispanic/Latino

text: Male

text: Propionic acidemia

text: GM22705 male unaffected Propionic acidemia sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: PD

text: 82 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse is ND02961

text: proband

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: PD

text: Parkinson disease

text: ND02960 male affected PD sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 62 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

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

characteristic: description

text: Homo sapiens

characteristic: organism

text: Black

characteristic: race

text: Female

text: GM22708 female unaffected Apparently healthy individual with normal visual screening sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 82 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse of ND02960

characteristic: family id

text: spouse

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Population/convenience control

text: Neurologically normal caucasian control panel

text: ND02961 female unaffected Dna control panel for late onset parkinsons: unaffected individuals sample

characteristic: title


characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 6 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: De novo;low birth weight (5 lbs 1 oz);born with 1 ASD and 7 small VSDs;heart surgery at age 10 months to close defects;constipation;scoliosis detected by age 12-15 months;not currently present;from age 2-4 years wears braces in shoes for ankle and foot support;pneumonia at 2.5 months with hospitalization;Duane's syndrome in left eye detected at age 3 years;slight lisp;left undescended testis

text: 46;XY;t(16;20)(16pter>16q11.2::20q13.2>20qter;20pter>20q13.2::16q11.2>16qter)).ish(20qtel14+;20qtel14-)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Translocated chromosome

text: GM22709 male unaffected Translocated chromosome sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Parkinson disease

text: 56 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse is ND02963

text: proband

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: PD

characteristic: tag

text: Parkinson disease

text: ND02962 male affected Parkinson disease sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 55 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Developmental delay;behavioral problems;significant speech delay as a child;obsessive compulsive tendancies;current speech impediment;father of GM22710

characteristic: description

text: father

text: 46;XY;ins(16;2)(16pter>16q22.1::2p16.1>2p16.3::16q22.1>16qter;2pter>2p16.1::2p16.3>2qter)ish ins(16;2)(wcp2+;16qtel48+)

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Chromosome insertion

text: GM22711 male unaffected Chromosome insertion sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Epilepsy

text: 1 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: African American

text: Female

characteristic: sex

text: Epilepsy

text: ND02967 female affected Epilepsy sample

characteristic: title


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: Glaucoma, primary open angle

text: 66 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;father and paternal grandmother are also affected;hypothyroidism;arthritis;high cholesterol;osteoporosis;past history of smoking - 1 pack per day for 60 years;stopped smoking at age 61;cataracts in right eye;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: GM22712 female affected Glaucoma, primary open angle sample


text: Coriell

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 59 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: ND02976 & ND22360 ARE IDENTICAL TWINS PER KATE GARDNER 7/23/09- AA.

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Subarachnoid hemorrhage

characteristic: tag

text: ND02976 female affected Subarachnoid hemorrhage sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: RTT

text: 6 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;first signs observed at 6 months of age;no hand use;repetitive hand motions;non-verbal;cannot walk;occasional breathing problems;seizures;EEG has minor abnormalities;major eating difficulties;minor gastroesophageal reflux;back has slight curve;small feet;occasional problem with circulation;occasional tremors;some sleep difficulties;donor subject is heterozygous for a 502C>T transition in the MECP2 gene resulting in a premature stop at codon 168 Arg168Ter (R168X)

text: FILIPINO/CAUCASIAN

characteristic: ethnicity

text: proband

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: More than one race

text: Female

text: RTT

text: Methyl-cpg-binding protein 2

text: Rett syndrome

text: GM22713 female affected RTT sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Epilepsy

text: 1 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Female

text: Epilepsy

text: ND02980 female affected Epilepsy sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 38 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal mother of an affected child (GM22713)

characteristic: description

text: mother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: RTT

text: Rett syndrome

text: GM22714 female unaffected Rett syndrome sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: Subarachnoid hemorrhage

text: 55 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Subarachnoid hemorrhage

text: ND02987 female affected Subarachnoid hemorrhage sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 41 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically normal father of an affected child (GM22713);a female second cousin is affected

text: father

text: Homo sapiens

text: Filipino

text: Male

text: RTT

characteristic: tag

text: Rett syndrome

text: GM22715 male unaffected Rett syndrome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Intracranial aneurysm - unruptured

text: 66 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND02993 female affected Intracranial aneurysm - unruptured sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 32 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;other lymphoblast cell cultures from this same individual are GM22732;GM22733;GM22734 and GM22735

text: AFRICAN-AMERICAN

characteristic: ethnicity

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Black

text: Male

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

text: Apparently healthy non-fetal tissue

text: GM22731 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 56 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Subarachnoid hemorrhage

text: Subarachnoid hemorrhage, caucasian from north america

text: ND02994 female affected Subarachnoid hemorrhage sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: 32 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;other lymphoblast cell cultures from this same individual are GM22731;GM22733;GM22734 and GM22735

characteristic: description

text: AFRICAN-AMERICAN

text: proband

text: Homo sapiens

text: Black

text: Male

text: Apparently healthy non-fetal tissue

text: GM22732 male unaffected Apparently healthy non-fetal tissue sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Epilepsy

text: 41 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected daughter of ND02997

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy generalized: caucasian

text: Epilepsy

text: ND02996 female affected Epilepsy sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 32 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically normal;other lymphoblast cell cultures from this same individual are GM22731;GM22732;GM22734 and GM22735

text: AFRICAN-AMERICAN

text: proband

text: Homo sapiens

text: Black

text: Male

characteristic: tag

text: Apparently healthy non-fetal tissue

text: GM22733 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 15 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected daughter is ND02996

characteristic: family id

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: ND02997 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 32 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;other lymphoblast cell cultures from this same individual are GM22731;GM22732;GM22733 and GM22735

text: AFRICAN-AMERICAN

characteristic: ethnicity

text: proband

text: Homo sapiens

characteristic: organism

text: Black

text: Male

text: Apparently healthy non-fetal tissue

text: GM22734 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: Epilepsy

text: 18 YR

text: B-Lymphocyte

text: NINDS Repository

text: Affected mother is ND02999

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Epilepsy generalized: caucasian

text: Epilepsy

text: ND02998 female affected Epilepsy sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 32 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;other lymphoblast cell cultures from this same individual are GM22731;GM22732;GM22733 and GM22734

characteristic: description

text: AFRICAN-AMERICAN

text: proband

text: Homo sapiens

text: Black

text: Male

text: Apparently healthy non-fetal tissue

text: GM22735 male unaffected Apparently healthy non-fetal tissue sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Epilepsy

text: 45 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Affected mother of ND02998

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

text: ND02999 female affected Epilepsy sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 26 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically normal;other lymphoblast cell cultures from this same individual are GM22738;GM22739 and GM22741

text: AFRICAN-AMERICAN

characteristic: family id

text: proband

text: Homo sapiens

text: Black

text: Female

characteristic: tag

text: Apparently healthy non-fetal tissue

text: GM22737 female unaffected Apparently healthy non-fetal tissue sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Parkinson disease

text: 72 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse is ND03002

text: proband

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Parkinsons panel: caucasian from the united states

text: PD

text: Parkinson disease

text: ND03001 female affected Parkinson disease sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

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 GM22737;GM22739 and GM22741

text: AFRICAN-AMERICAN

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Black

characteristic: race

text: Female

characteristic: sex

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

text: Apparently healthy non-fetal tissue

text: GM22738 female unaffected Apparently healthy non-fetal tissue sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 75 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 ND03001

characteristic: description

text: spouse

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

text: Male

text: ND03002 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 26 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically normal;other lymphoblast cell cultures from this same individual are GM22737;GM22738 and GM22741

text: AFRICAN-AMERICAN

characteristic: family id

text: proband

text: Homo sapiens

text: Black

text: Female

characteristic: tag

text: Apparently healthy non-fetal tissue

text: GM22739 female unaffected Apparently healthy non-fetal tissue sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: PD

text: 61 YR

text: B-Lymphocyte

text: NINDS Repository

text: Affected sister is ND02145

text: sister

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Late onset parkinsons dna panel: affected individuals

text: PD

text: Parkinson disease

text: ND03004 female affected PD sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

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 GM22737;GM22738 and GM22739

text: AFRICAN-AMERICAN

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Black

characteristic: race

text: Female

text: Apparently healthy non-fetal tissue

text: GM22741 female unaffected Apparently healthy non-fetal tissue sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Subarachnoid hemorrhage

text: 73 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: More than one race

text: Female

characteristic: sex

text: Subarachnoid hemorrhage

text: ND03015 female affected Subarachnoid hemorrhage sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 32 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically healthy;beta thalassemia trait;fetal hemoglobin below 1%;elevated hemglobin A2 (5.5%)

characteristic: description

text: AFRICAN-AMERICAN

text: Homo sapiens

text: Black

text: Female

text: Hemoglobin--beta locus

text: HBB

text: GM22746 female unaffected Hemoglobin--beta locus sample

characteristic: title


text: Coriell

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 69 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

characteristic: family id

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND03016 female affected Intracranial aneurysm - unruptured sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 35 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;serum creatine phosphokinase is 192 U/L;serum bone-specific alkaline phosphatase is 60 U/L;affected brother is GM22393;affected sister is GM22395;see GM22757 Fibroblast

text: brother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

characteristic: tag

text: IBMPFD

text: GM22756 male unaffected Inclusion body myopathy with early-onset paget disease and frontotemporal dementia sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Intracranial aneurysm - unruptured

text: 49 YR

text: B-Lymphocyte

text: NINDS Repository

text: son

text: Homo sapiens

text: More than one race

characteristic: race

text: Male

text: Intracranial aneurysm - unruptured

text: ND03017 male affected Intracranial aneurysm - unruptured sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 35 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;serum creatine phosphokinase is 192 U/L;serum bone-specific alkaline phosphatase is 60 U/L;affected brother is GM22394;affected sister is GM22396;see GM22756 Lymphoid

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: IBMPFD

text: GM22757 male unaffected Inclusion body myopathy with early-onset paget disease and frontotemporal dementia sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Intracranial aneurysm - unruptured

text: 54 YR

text: B-Lymphocyte

text: NINDS Repository

text: son

text: Homo sapiens

text: More than one race

text: Male

characteristic: sex

text: Intracranial aneurysm - unruptured

text: ND03021 male affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: VCP

text: 65 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;myopathy with onset at age 50 years;serum creatine phosphokinase is 159 U/L;serum bone-specific alkaline phosphatase is 89 U/L;donor subject is heterozygous for a C>T transition at nucleotide 475 in exon 5 of the VCP gene (475C>T) resulting in the substitution of cysteine for arginine at codon 159 Arg159Cys(R159C);affected cousin is GM22763

text: proband

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: GM22762 female affected VCP sample


text: Coriell

text: live

text: Generic

text: Epilepsy

text: 11 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected mother is ND03044;unaffected sister is ND03045

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy generalized: caucasian

text: Epilepsy

text: ND03043 female affected Epilepsy sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: VCP

text: 59 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;myopathy;serum creatine phosphokinase is 115 U/L;serum bone-specific alkaline phosphatase is 85 U/L;donor subject is heterozygous for a C>T transition at nucleotide 475 in exon 5 of the VCP gene (475C>T) resulting in the substitution of cysteine for arginine at codon 159 Arg159Cys(R159C);affected cousin is GM22762;see GM22764 Fibroblast

characteristic: family id

text: cousin

text: VCP

text: Homo sapiens

text: Caucasian

text: Female

text: IBMPFD

text: VCP

text: Valosin-containing protein

text: GM22763 female affected VCP sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 47 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother of ND03043 and ND03045

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

characteristic: tag

text: ND03044 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: VCP

text: 59 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;myopathy;serum creatine phosphokinase is 115 U/L;serum bone-specific alkaline phosphatase is 85 U/L;donor subject is heterozygous for a C>T transition at nucleotide 475 in exon 5 of the VCP gene (475C>T) resulting in the substitution of cysteine for arginine at codon 159 Arg159Cys(R159C);affected cousin is GM22762;see GM22763 Lymphoid

text: cousin

text: VCP

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: IBMPFD

text: VCP

text: Valosin-containing protein

text: GM22764 female affected VCP sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 16 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected daughter of ND03044;unaffected sister of ND03043

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: ND03045 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 2 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Mental retardation;abnormal EEG;scaphycephaly;hydrocephalus;hearing loss

text: 46;XY;der(2)t(2pter>2q37::6p25>6pter).ish der(2)(VIJyRM2052+;D2Z1+;D2S447-;6PTEL48+)

characteristic: karyotype

text: Homo sapiens

text: Hispanic/Latino

text: Male

text: Derivative chromosome

text: GM22770 male unaffected Derivative chromosome sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 73 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse of ND03046

characteristic: description

text: spouse

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND03047 female unaffected Neurologically normal caucasian control panel sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 12 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Mental retardation;colobomas on upper eyelids;bilateral ptosis;blepharospasms of eyelids;left facial paresis;paralysis of upward gaze

text: 45;XX;dic(14;18)(14qter->14p12::18p11.2->18qter).ish dic(14;18)(D14Z1+;D18S552-;D18Z1+).arr 18p11.32p11.21(1543-15391751)x1

text: Homo sapiens

characteristic: organism

text: Hispanic/Latino

characteristic: race

text: Female

text: Pseudodicentric chromosome

characteristic: tag

text: Dicentric chromosome

text: GM22771 female unaffected Dicentric chromosome sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 56 YR

text: B-Lymphocyte

text: NINDS Repository

text: WELSH

characteristic: ethnicity

characteristic: family id

text: cousin

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: ND03052 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 40 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;migraines;gastroesophageal reflux;past history of smoking - 1 pack per day for 20 years;stopped smoking at age 34;no glaucomatous visual field loss;normal color vision

text: Homo sapiens

text: Caucasian

text: Female

text: GM22774 female unaffected Apparently healthy individual with normal visual screening sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 69 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: WELSH

text: cousin

text: Homo sapiens

text: Caucasian

text: Female

text: ND03053 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

text: live

text: Generic

text: Glaucoma, primary open angle

text: 41 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;mother;father and uncle are also affected;gastroesophageal reflux;cataracts in right eye;past history of smoking - 1 pack a day for 20 years;stopped smoking at age 34;glaucomatous visual field loss in both eyes;normal color vision

characteristic: description

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: POAG

characteristic: tag

text: Glaucoma, primary open angle

text: GM22775 male affected Glaucoma, primary open angle sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Intracranial aneurysm - unruptured

text: 53 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND03058 female affected Intracranial aneurysm - unruptured sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: Glaucoma, primary open angle

text: 52 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;mother has high intraocular pressure (IOP) and is under treatment;asthma;hypothyroidism;cataracts in both eyes;no past history of smoking;glaucomatous visual field loss in right eye;normal color vision

text: Homo sapiens

text: Black

text: Female

characteristic: sex

text: POAG

text: Glaucoma, primary open angle

text: GM22777 female affected Glaucoma, primary open angle sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 51 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND03061 female affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

text: Generic

text: Glaucoma, primary open angle

text: 59 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;brother and paternal grandmother are also affected;hypothyroidism;migraines;low vitamin D;no past 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: GM22782 female affected Glaucoma, primary open angle sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Intracranial aneurysm - unruptured

text: 64 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND03063 female affected Intracranial aneurysm - unruptured sample

characteristic: title


text: Coriell

text: live

text: Generic

text: Collagen type xi alpha-1

text: 33 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;congenital cataracts;strabismus;hypertelorism;flat nasal bridge;affected son is GM22659;donor subject is heterozygous for an IVS50+1G>A splice site mutation in the COL11A1 gene;mutation frequency indicates possible mosaicism

characteristic: description

text: mother

characteristic: gene

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Black

characteristic: race

text: Female

text: Marshall syndrome

text: Collagen type xi alpha-1

text: GM22786 female affected Collagen type xi alpha-1 sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

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 of ND02660

text: spouse

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

text: Female

text: Neurologically normal caucasian control update of plate ndpt008

characteristic: tag

text: Population/convenience control

text: Ndpt079 neurologically normal caucasion control

text: Neurologically normal caucasian control panel

text: ND03071 female unaffected Population/convenience control sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 52 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;arthritis;no past history of smoking;cataracts in both eyes;no glaucomatous visual field loss;normal color vision

text: Homo sapiens

text: Black

text: Male

characteristic: sex

text: GM22807 male unaffected Apparently healthy individual with normal visual screening sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Parkinson disease

text: 76 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse is ND03073

characteristic: family id

text: proband

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

text: Female

text: Young onset parkinsons dna panel: affected individuals

text: PD

text: Parkinson disease

text: ND03072 female affected Parkinson disease sample


text: Coriell

text: live

text: Generic

text: 4 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;delivered via C-section at 35 weeks gestation with a 2 vessel umbilical cord;hospitalized 10 days for feeding issues;splenomegaly first noted at 2 years of age;developmental delay and mild ataxia;hepatomegaly noted at age 3 years and 9 months;persistent mild elevated AST and LDH;elevated DHEA;mild leukopenia;mild eosinophilia;fatigues easily;difficulty following directions;some phonological process and syntax deficits;see GM22227 Lymphoid;affected monozygotic twin sister (GM22871);donor subject has a 1 bp deletion in exon 12 of the NPC1 gene (1920delG) inherited from her mother;her paternal mutation is a missense mutation (IVS9-1009G>A)

characteristic: description

text: proband

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Npc1 gene

text: Niemann-pick disease type c1

text: GM22870 female affected NPC1 sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

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 of ND03072

text: spouse

text: WILDTYPE for GLY2019

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: ND03073 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

characteristic: NCBI submission model

text: 4 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;delivered via C-section at 35 weeks gestation;hospitalized 10 days for feeding issues;splenomegaly first noted at 2 years of age;global developmental delay more pronounced in fine and gross motor skills with early signs of ataxia;hepatomegaly noted at age 3 years and 9 months;persistent mild elevated AST and LDH;elevated DHEA;mild leukopenia;regression of speech;see GM22256 Lymphoid;affected monozygotic twin sister (GM22870);donor subject has a 1 bp deletion in exon 12 of the NPC1 gene (1920delG) inherited from her mother;her paternal mutation is a missense mutation (IVS9-1009G>A)

text: identical twin sister

text: Homo sapiens

text: Caucasian

text: Female

text: Npc1 gene

characteristic: tag

text: Niemann-pick disease type c1

text: GM22871 female affected NPC1 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Epilepsy

text: 3 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother is ND03075;unaffected sister is ND03076

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Epilepsy generalized: caucasian

text: Epilepsy

text: ND03074 female affected Epilepsy sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 51 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically normal;cataracts in both eyes;past history of smoking - 3 packs per week for 20 years;stopped at age 44;no glaucomatous visual field loss;normal color vision

characteristic: description

text: Homo sapiens

text: Black

text: Female

text: GM22873 female unaffected Apparently healthy individual with normal visual screening sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 28 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother of ND03074;unaffected daughter is ND03076

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

text: ND03075 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 11 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Autistic

text: 46;XX;inv(9)(pter->p11::q13->p11::q13->qter);dup(15)(pter->q12::q11.2->qter).arr 15q11.2q13.1(18906577-26757821)x3

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Duplicated chromosome

text: Inverted chromosome

text: GM22894 female unaffected Chromosome 15q11-q13 duplication syndrome sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

text: 8 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected daughter of ND03075;unaffected sister of ND03074

text: sister

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Epilepsy

text: ND03076 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 62 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;cataracts in both eyes;hypertension;arthritis;hayfever;high cholesterol;past history of smoking - 1 pack a week for 5 years;stopped at age 32 years;no glaucomatous visual field loss;normal color vision

text: Homo sapiens

text: Black

text: Male

characteristic: tag

text: GM23056 male unaffected Apparently healthy individual with normal visual screening sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 60 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse is ND03091

text: proband

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Parkinsons panel: caucasian from the united states

text: PD

text: Parkinson disease

text: ND03090 female affected Parkinson disease sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 35 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically healthy;Hemoglobin E trait;HPLC testing showed 20% HbE

characteristic: description

text: Homo sapiens

text: Vietnamese

text: Male

text: Hemoglobin--beta locus

text: HBB

text: GM23058 male unaffected Hemoglobin--beta locus sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: 58 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse of ND03090

characteristic: family id

text: spouse

text: WILDTYPE for GLY2019

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: ND03091 male 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

characteristic: NCBI submission package

text: 34 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;donor subject has a duplication of exons 2-30 in the DMD gene;mother of an affected child (GM23086)

text: mother

text: DMD

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Muscular dystrophy: duchenne type

text: DMD

text: GM23087 female unaffected Copy number variation (cnv) refernece panel 02 sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 76 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected spouse is ND03096

text: proband

text: Homo sapiens

text: Male

text: PD

characteristic: tag

text: Parkinson disease

text: ND03095 male affected Parkinson disease sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 52 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;cataracts in both eyes;tuberculosis at age 3;arthritis in knees;no history of smoking;no glaucomatous visual field loss;normal color vision

text: Homo sapiens

text: Black

text: Female

characteristic: sex

text: GM23091 female unaffected Apparently healthy individual with normal visual screening sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 79 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND03095

characteristic: description

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND03096 female unaffected Neurologically normal caucasian control panel sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 54 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

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

text: Homo sapiens

characteristic: organism

text: Black

text: Male

text: GM23092 male unaffected Apparently healthy individual with normal visual screening sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 44 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND03098 female affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Metachromatic leukodystrophy

text: 7 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;1.5 nmoles/mg/hr arylsulfatase A activity;affected twin brother;both parents and unaffected younger brother have carrier levels of ASA

text: Homo sapiens

text: Caucasian

text: Male

text: Metachromatic leukodystrophy

text: GM23097 male affected Metachromatic leukodystrophy sample


text: Coriell

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 71 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: More than one race

characteristic: race

text: Male

text: Intracranial aneurysm - unruptured

text: ND03099 male affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

text: Generic

text: PD

text: 74 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse is ND03102

text: proband

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Parkinsons panel: caucasian from the united states

text: PD

text: Parkinson disease

text: ND03101 female affected PD sample


characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 50 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically normal;cataracts in both eyes;no past history of smoking;no glaucomatous visual field loss;normal color vision

text: Homo sapiens

text: Black

text: Female

characteristic: tag

text: GM23104 female unaffected Apparently healthy individual with normal visual screening sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: 78 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND03101

characteristic: description

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Population/convenience control

text: ND03102 male unaffected Neurologically normal caucasian control panel sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 6 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Autistic

text: 46;XX.arr 15q11.2q13.1(20224751-26872582)x3

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Duplicated chromosome

text: GM23125 female affected Chromosome 15q11-q13 duplication syndrome sample


text: Coriell

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 49 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: family id

text: niece

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Intracranial aneurysm - unruptured

text: ND03143 female affected Intracranial aneurysm - unruptured sample


characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: BMD

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;muscle pain and cramps;toe walking;elevated liver enzymes;diagnosed at 6 years of age;walks without mobility devices;donor subject has a duplication of exons 27-28 in the DMD gene

text: proband

text: DMD

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: BMD

text: DMD

text: Dystrophin

text: Muscular dystrophy: becker type

text: GM23127 male affected BMD sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: Epilepsy

text: 7 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother is ND03146

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Epilepsy generalized: caucasian

characteristic: tag

text: Epilepsy

text: ND03145 male affected Epilepsy sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 3 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;splenomegaly;vertical supranuclear gaze palsy;joint laxity/hypotonia;apraxia;expressive language diminished;seizures;abnormal raspy voice;eczema;macrocephaly;developmental delays;gait ataxia;cataplexy;elevated urine carnosine (117 umol/g cr);cultured fibroblasts from this subject show zero cholesterol esterification;donor subject is heterozygous for a splice site mutation: a G>T transversion at the +1 position in intron 2 of the NPC1 gene IVS2+1G>T;no other mutation has as yet been identified

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Npc1 gene

text: Niemann-pick disease type c1

text: GM23150 female affected NPC1 sample


text: Coriell

text: live

text: Generic

text: 34 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected mother of ND03145

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: ND03146 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 39 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically normal mother of affected monozygotic twins (GM22227 and GM22256);see GM22566 Lymphoid;donor subject has a 1 bp deletion in exon 12 of the NPC1 gene (1920delG)

text: HUNGARIAN/IRISH

characteristic: ethnicity

text: mother

characteristic: gene

text: Homo sapiens

text: Caucasian

text: Female

text: Npc1 gene

text: Niemann-pick disease type c1

text: GM23151 female unaffected NPC1 sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: Epilepsy

text: 7 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother is ND03148

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Epilepsy generalized: caucasian

text: Epilepsy

text: ND03147 female affected Epilepsy sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

text: 50 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically normal father of affected monozygotic twins (GM22227 and GM22256);see GM22567 Lymphoid;donor subject is heterozygous for a missense mutation: IVS9-1009G>A

text: SCOTTISH/IRISH

text: father

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Npc1 gene

characteristic: tag

text: Niemann-pick disease type c1

text: GM23152 male unaffected NPC1 sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 42 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected mother of ND03147

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND03148 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 12 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;weight loss;slow swallowing;frequent partial seizures;disturbed sleep patterns;suspected hypnopompic hallucinations;hypersomnolent;limb weakness;difficulty with coordination;often sad;restless;irritable or angry;progressive ataxia and dystonia;ataxic dysarthria;speech has become less intelligible;vertical and early horizontal supranuclear gaze palsy;donor subject is a compound heterozygote: one allele has a G>A transition at nucleotide 1211 in exon 8 of the NPC1 gene (c.1211G>A) resulting in the substitution of glutamine for arginine at codon 404 Arg404Gln (R404Q) and the second allele has a C>G transversion at nucleotide 3019 in exon 20 (c.3019C>G) resulting in the substitution of alanine for proline at codon 1007 Pro1007Ala (P1007A);donor subject is also heterozygous for an expanded GAA tracked in the FRDA gene (FXN): the expanded allele has 196 GAA repeats

text: (GAA)n EXPANSION

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Npc1 gene

text: Frataxin

text: Niemann-pick disease type c1

text: FXN

text: GM23154 male affected NPC1 sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: Epilepsy

text: 1 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

text: ND03151 female affected Epilepsy sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: DMD

text: 34 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinicaly affected;diagnosed at 6 years of age;wheelchair-dependent as of 9 years of age;diagnosed with heart problem;on Losartin and Carvedilol;previously broken legs and arms;donor subject has a duplication of exon 17 in the DMD gene

characteristic: description

text: proband

text: DMD

characteristic: gene

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Muscular dystrophy: duchenne type

text: DMD

text: Dystrophin

text: GM23159 male affected DMD sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Intracranial aneurysm - unruptured

text: 57 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

characteristic: tag

text: ND03157 female affected Intracranial aneurysm - unruptured sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 61 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically normal mother of an affected child (GM23159)

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Muscular dystrophy: duchenne type

text: DMD

text: GM23160 female unaffected Muscular dystrophy: duchenne type sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 39 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: daughter

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Subarachnoid hemorrhage

text: ND03158 female affected Subarachnoid hemorrhage sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: 3 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Autistic

text: 47;XY;+idic(15)(pter->q13::q13->pter) 38 /46;XY 12 .arr 15q11.1q13.3(18276329-30207361)x3~4;47;XY;+idic(15) 38 /46;XY 12

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Isodicentric chromosome

text: GM23161 male affected Chromosome 15q11-q13 duplication syndrome sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 37 YR

text: B-Lymphocyte

text: NINDS Repository

text: Lost contact with subject;unknown whether he has developed PD since sample was collected;per Dee Perera;12/9/08. -AA

characteristic: description

text: WELSH

characteristic: ethnicity

characteristic: family id

text: identical twin brother

text: Homo sapiens

text: Caucasian

text: Male

text: ND03161 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 1 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;deceased;profound failure to thrive;hepatosplenomegaly;developmental delay;0% of normal cholesterol esterification and positive filipin stain;affected identical twin sister is also deceased;donor subject is a compound heterozygote: one allele has a G>A transition at nucleotide 125 in exon 2 of the NPC1 gene (c.125G>A) resulting in the substitution of tyrosine for cysteine at codon 42 Cys42Tyr(C42Y);the second allele has a G>A transition at nucleotide 2842 in exon 19 (c.2842G>A) resulting in the substitution of asparagine for aspartic acid at codon 948 Asp948Asn (D948N)

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Npc1 gene

characteristic: tag

text: Niemann-pick disease type c1

text: GM23162 female affected NPC1 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 42 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: WELSH

text: cousin

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND03162 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 28 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;unilateral moderate hearing loss and unilateral vestibular schwannoma;asymptomatic spinal tumors and schwannomas (right thumb;left wrist;right palm);founder mosaic for NF2: analysis of donor subject's tumor tissue showed that one allele has a total NF2 gene deletion and a second allele has a 2 bp deletion at nucleotide 1026 (c.1026_1027delAG)

text: NF2 GENE DELETION

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Neurofibromin 2

text: Neurofibromatosis type ii

text: GM23163 female affected NF2 sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 37 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: ND03168 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 63 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;noninsulin-dependent diabetes with onset at age 61;gout;high cholesterol;cataracts in both eyes;past history of smoking - 1 pack per week for 10 years;stopped at age 25;no glaucomatous visual field loss;normal color vision

characteristic: description

text: Homo sapiens

text: Black

text: Male

characteristic: sex

characteristic: tag

text: GM23164 male unaffected Apparently healthy individual with normal visual screening sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 72 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: More than one race

text: Female

text: Intracranial aneurysm - unruptured

text: ND03169 female affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

text: Generic

text: 44 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;migraines;cataracts in both eyes;past history of smoking - two packs per week for 10 years;stopped at age 34;no glaucomatous visual field loss in either eye;normal color vision

text: Homo sapiens

characteristic: organism

text: Black

text: Female

text: GM23165 female unaffected Apparently healthy individual with normal visual screening sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 58 YR

text: B-Lymphocyte

text: NINDS Repository

text: half-brother

text: Homo sapiens

text: Caucasian

text: Male

text: Intracranial aneurysm - unruptured

text: ND03182 male affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Propionic acidemia

text: 30 MO

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;newborn screened;eating by mouth;seizures;walked at 15 months of age;talked at 20 months of age;on metabolic formula and levocarnitine;donor subject is a compound heterozygote: one allele has a 4 bp deletion at nucleotide 1824+3 in intron 21 of the PCCA gene(IVS21+3del4) resulting in the skipping of intron 21 and the second allele has a substitution of cysteine for arginine at codon 243 Arg243Cys (R243C)

text: COSTA RICAN

characteristic: ethnicity

text: PCCA

characteristic: gene

characteristic: mutation

text: 4-BP DEL

text: Homo sapiens

text: Hispanic/Latino

text: Male

text: PCCA

text: Propionic acidemia

text: Propionyl-coa carboxylase alpha subunit

text: GM23221 male affected Propionic acidemia sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Intracranial aneurysm - unruptured

text: 60 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Intracranial aneurysm unruptured: caucasian

text: Intracranial aneurysm - unruptured

text: ND03194 male affected Intracranial aneurysm - unruptured sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Huntington disease

text: 20 YR

characteristic: age

text: Stem cell

text: NIGMS Human Genetic Cell Repository

text: Induced pluripotent stem cell line derived from GM04281 Fibroblast by reprogramming with lentiviral constructs encoding OCT4 (also known as POU5F1);SOX2;Klf4 and cMyc (Park et al. Cell 134:877-86;2008)

characteristic: description

text: proband

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Huntington disease

characteristic: tag

text: HD

text: GM23225 female affected Huntington disease sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 61 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: sister

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Subarachnoid hemorrhage

text: ND03209 female affected Subarachnoid hemorrhage sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: Diabetes mellitus

text: 42 YR

text: Stem cell

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Induced pluripotent stem cell line derived from GM02416 Fibroblast by reprogramming with lentiviral constructs encoding OCT4 (also known as POU5F1);SOX2;Klf4 and cMyc (Park et al. Cell 134:877-86;2008)

text: proband

text: Homo sapiens

text: American Indian

text: Female

text: Diabetes mellitus

text: IDDM

text: Juvenile-onset insulin-dependent

text: GM23226 female affected Diabetes mellitus sample