text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 22 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: description

text: HAN

text: Homo sapiens

characteristic: organism

text: Chinese

text: Male

text: GM17762 male unaffected Human variation panel - han people of los angeles panel of 100 (version 2) sample

characteristic: title


status: PUBLIC

tag: attribute

characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 20 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Han Chinese;all four grandparents are of Han ethnicity and were born in Taiwan;China;or Hong Kong

text: HAN

characteristic: ethnicity

text: Homo sapiens

text: Chinese

characteristic: race

text: Male

characteristic: sex

characteristic: tag

text: GM17764 male unaffected Human variation panel - han people of los angeles panel of 100 (version 2) sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Subarachnoid hemorrhage

text: 58 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Subarachnoid hemorrhage

text: ND28883 male affected Subarachnoid hemorrhage sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: 20 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: description

text: HAN

text: Homo sapiens

text: Chinese

text: Male

text: GM17765 male unaffected Human variation panel - han people of los angeles panel of 100 (version 2) sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Intracranial aneurysm - unruptured

text: 71 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND28886 female affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 20 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: HAN

text: Homo sapiens

text: Chinese

text: Female

text: GM17766 female unaffected Human variation panel - han people of los angeles panel of 100 (version 2) sample


text: Coriell

text: live

text: Generic

text: Epilepsy

text: 20 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Epilepsy

text: ND28894 female affected Epilepsy sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 20 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: HAN

characteristic: ethnicity

text: Homo sapiens

text: Chinese

text: Male

characteristic: tag

text: GM17767 male unaffected Human variation panel - han people of los angeles panel of 100 (version 2) sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Epilepsy

text: 18 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Epilepsy

text: ND28895 male affected Epilepsy sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 21 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: description

text: HAN

text: Homo sapiens

text: Chinese

text: Female

text: GM17768 female unaffected Human variation panel - han people of los angeles panel of 100 (version 2) sample

characteristic: title


text: Coriell

characteristic: INSDC first public

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: brother

text: Homo sapiens

text: Caucasian

text: Male

text: ND28897 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 23 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: HAN

text: Homo sapiens

text: Chinese

text: Male

text: GM17769 male unaffected Human variation panel - han people of los angeles panel of 100 (version 2) sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Epilepsy

text: 26 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Other

characteristic: race

text: Female

characteristic: sex

text: Epilepsy

text: ND28898 female affected Epilepsy sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 22 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: HAN

characteristic: ethnicity

text: Homo sapiens

text: Chinese

text: Male

characteristic: tag

text: GM17770 male unaffected Human variation panel - han people of los angeles panel of 100 (version 2) sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Epilepsy

text: 1 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Epilepsy

text: ND28902 female affected Epilepsy sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 42 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: description

text: HAN

text: Homo sapiens

text: Chinese

text: Male

text: GM17771 male unaffected Human variation panel - han people of los angeles panel of 100 (version 2) sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 29 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND28903 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 18 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: HAN

text: Homo sapiens

text: Chinese

text: Female

text: GM17773 female unaffected Human variation panel - han people of los angeles panel of 100 (version 2) sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 32 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: ND28904 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 19 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: HAN

characteristic: ethnicity

text: Homo sapiens

text: Chinese

text: Male

characteristic: tag

text: GM17774 male unaffected Human variation panel - han people of los angeles panel of 100 (version 2) sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 56 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND28905 female affected Intracranial aneurysm - unruptured sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 63 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Han Chinese;all four grandparents are of Han ethnicity and were born in Taiwan;China;or Hong Kong

characteristic: description

text: HAN

text: Homo sapiens

text: Chinese

text: Female

text: GM17775 female unaffected Human variation panel - han people of los angeles panel of 100 (version 2) sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Subarachnoid hemorrhage

text: 67 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Subarachnoid hemorrhage

text: ND28906 female affected Subarachnoid hemorrhage sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 57 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: HAN

text: Homo sapiens

text: Chinese

text: Male

text: GM17776 male unaffected Human variation panel - han people of los angeles panel of 100 (version 2) sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 69 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Intracranial aneurysm - unruptured

text: ND28908 female affected Intracranial aneurysm - unruptured sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 51 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: HAN

characteristic: ethnicity

text: Homo sapiens

text: Chinese

text: Female

characteristic: tag

text: GM17779 female unaffected Human variation panel - han people of los angeles panel of 100 (version 2) sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 70 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: sister

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND28909 female affected Intracranial aneurysm - unruptured sample


characteristic: DNA id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 23 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: description

text: HAN

text: Homo sapiens

text: Chinese

text: Female

text: GM17780 female unaffected Human variation panel - han people of los angeles panel of 100 (version 2) sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Parkinson disease

text: 57 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Homo sapiens

text: African American

text: Female

text: Parkinson disease

text: ND28916 female affected Parkinson disease sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 37 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: HAN

text: Homo sapiens

text: Chinese

text: Female

text: GM17782 female unaffected Human variation panel - han people of los angeles panel of 100 (version 2) sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 49 YR

text: B-Lymphocyte

text: NINDS Repository

text: parent

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: ND28922 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 47 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: HAN

characteristic: ethnicity

text: Homo sapiens

text: Chinese

text: Female

characteristic: tag

text: GM17783 female unaffected Human variation panel - han people of los angeles panel of 100 (version 2) sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 44 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: parent

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: ND28927 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: 41 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: description

text: HAN

text: Homo sapiens

text: Chinese

text: Male

text: GM17784 male unaffected Human variation panel - han people of los angeles panel of 100 (version 2) sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Epilepsy

text: 50 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: sibling

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy

text: ND28928 male affected Epilepsy sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 44 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: HAN

text: Homo sapiens

text: Chinese

text: Female

text: GM17785 female unaffected Human variation panel - han people of los angeles panel of 100 (version 2) sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Epilepsy

text: 8 YR

text: B-Lymphocyte

text: NINDS Repository

text: sibling

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Epilepsy

text: ND28939 female affected Epilepsy sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 41 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: HAN

characteristic: ethnicity

text: Homo sapiens

text: Chinese

text: Male

characteristic: tag

text: GM17787 male unaffected Human variation panel - han people of los angeles panel of 100 (version 2) sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Epilepsy

text: 5 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Epilepsy

text: ND28940 female affected Epilepsy sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 55 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: description

text: HAN

text: Homo sapiens

text: Chinese

text: Male

text: GM17789 male unaffected Human variation panel - han people of los angeles panel of 100 (version 2) sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 55 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: parent

text: Homo sapiens

text: Caucasian

text: Male

text: ND28948 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 35 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Han Chinese;all four grandparents are of Han ethnicity and were born in Taiwan;China;or Hong Kong

text: HAN

text: Homo sapiens

text: Chinese

text: Male

text: GM17790 male unaffected Human variation panel - han people of los angeles panel of 100 (version 2) sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Epilepsy

text: 24 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Epilepsy

text: ND28949 male affected Epilepsy sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 42 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: HAN

characteristic: ethnicity

text: Homo sapiens

text: Chinese

text: Male

characteristic: tag

text: GM17791 male unaffected Human variation panel - han people of los angeles panel of 100 (version 2) sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Epilepsy

text: 50 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Epilepsy

text: ND28951 female affected Epilepsy sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 35 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: description

text: HAN

text: Homo sapiens

text: Chinese

text: Female

text: GM17792 female unaffected Human variation panel - han people of los angeles panel of 100 (version 2) sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Epilepsy

text: 27 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Other

text: Male

text: Epilepsy

text: ND28953 male affected Epilepsy sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 40 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: HAN

text: Homo sapiens

text: Chinese

text: Female

text: GM17793 female unaffected Human variation panel - han people of los angeles panel of 100 (version 2) sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 50 YR

text: B-Lymphocyte

text: NINDS Repository

text: parent

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: ND28960 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 49 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: HAN

characteristic: ethnicity

text: Homo sapiens

text: Chinese

text: Male

characteristic: tag

text: GM17794 male unaffected Human variation panel - han people of los angeles panel of 100 (version 2) sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 60 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND28961 female 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: 51 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: description

text: HAN

text: Homo sapiens

text: Chinese

text: Female

text: GM17795 female unaffected Human variation panel - han people of los angeles panel of 100 (version 2) sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Parkinson disease

text: 37 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: More than one race

text: Female

text: Parkinson disease

text: ND28962 female affected Parkinson disease sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 59 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: HAN

text: Homo sapiens

text: Chinese

text: Male

text: GM17796 male unaffected Human variation panel - han people of los angeles panel of 100 (version 2) sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 19 YR

text: B-Lymphocyte

text: NINDS Repository

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: ND28963 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 19 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: HAN

characteristic: ethnicity

text: Homo sapiens

text: Chinese

text: Female

characteristic: tag

text: GM17797 female unaffected Human variation panel - han people of los angeles panel of 100 (version 2) sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 22 YR

text: B-Lymphocyte

text: NINDS Repository

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND28964 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 51 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: description

text: HAN

text: Homo sapiens

text: Chinese

text: Female

text: GM17798 female unaffected Human variation panel - han people of los angeles panel of 100 (version 2) sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 58 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: ND28965 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 41 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: HAN

text: Homo sapiens

text: Chinese

text: Female

text: GM17799 female unaffected Human variation panel - han people of los angeles panel of 100 (version 2) sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Epilepsy

text: 30 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: sibling

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Epilepsy

text: ND28970 female affected Epilepsy sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 47 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Han Chinese;all four grandparents are of Han ethnicity and were born in Taiwan;China;or Hong Kong

text: HAN

characteristic: ethnicity

text: Homo sapiens

text: Chinese

text: Female

characteristic: tag

text: GM17800 female unaffected Human variation panel - han people of los angeles panel of 100 (version 2) sample


text: Coriell

text: live

text: Generic

text: 48 YR

text: B-Lymphocyte

text: NINDS Repository

text: parent

text: Homo sapiens

characteristic: organism

text: Asian

text: Male

text: ND28971 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: DNA id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 60 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: description

text: HAN

text: Homo sapiens

text: Chinese

text: Female

text: GM17801 female unaffected Human variation panel - han people of los angeles panel of 100 (version 2) sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 46 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: parent

text: Homo sapiens

text: Caucasian

text: Female

text: ND28973 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 28 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: HAN

text: Homo sapiens

text: Chinese

text: Female

text: GM17802 female unaffected Human variation panel - han people of los angeles panel of 100 (version 2) sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 42 YR

text: B-Lymphocyte

text: NINDS Repository

text: parent

text: Homo sapiens

text: More than one race

characteristic: race

text: Male

characteristic: sex

text: ND28981 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 21 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: HAN

characteristic: ethnicity

text: Homo sapiens

characteristic: organism

text: Chinese

text: Female

characteristic: tag

text: GM17803 female unaffected Human variation panel - han people of los angeles panel of 100 (version 2) sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 44 YR

text: B-Lymphocyte

text: NINDS Repository

text: parent

text: Homo sapiens

text: Asian

text: Female

text: ND28984 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 45 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: description

text: HAN

text: Homo sapiens

text: Chinese

text: Male

text: GM17804 male unaffected Human variation panel - han people of los angeles panel of 100 (version 2) sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 73 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: parent

text: Homo sapiens

text: Caucasian

text: Female

text: ND28988 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 45 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: HAN

text: Homo sapiens

text: Chinese

text: Male

text: GM17805 male unaffected Human variation panel - han people of los angeles panel of 100 (version 2) sample


text: Coriell

text: live

text: Generic

text: 72 YR

text: B-Lymphocyte

text: NINDS Repository

text: parent

text: Homo sapiens

characteristic: organism

text: More than one race

characteristic: race

text: Male

characteristic: sex

text: ND28989 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 22 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: HAN

characteristic: ethnicity

text: Homo sapiens

text: Chinese

text: Male

characteristic: tag

text: GM17806 male unaffected Human variation panel - han people of los angeles panel of 100 (version 2) sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Epilepsy

text: 35 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy

text: ND28991 male affected Epilepsy sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 20 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: description

text: HAN

text: Homo sapiens

text: Chinese

text: Male

text: GM17807 male unaffected Human variation panel - han people of los angeles panel of 100 (version 2) sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 59 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: parent

text: Homo sapiens

text: Caucasian

text: Female

text: ND28992 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 48 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: HAN

text: Homo sapiens

characteristic: organism

text: Chinese

characteristic: race

text: Female

text: GM17808 female unaffected Human variation panel - han people of los angeles panel of 100 (version 2) sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Epilepsy

text: 19 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Epilepsy

characteristic: tag

text: ND28993 female affected Epilepsy sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 51 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Han Chinese;all four grandparents are of Han ethnicity and were born in Taiwan;China;or Hong Kong

text: HAN

characteristic: ethnicity

text: Homo sapiens

text: Chinese

text: Male

text: GM17809 male unaffected Human variation panel - han people of los angeles panel of 100 (version 2) sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: Epilepsy

text: 24 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: sibling

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy

text: ND28996 male affected Epilepsy sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 56 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: description

text: HAN

text: Homo sapiens

text: Chinese

text: Male

text: GM17810 male unaffected Human variation panel - han people of los angeles panel of 100 (version 2) sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 59 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinson disease

text: ND28998 male affected Parkinson disease sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 27 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: HAN

text: Homo sapiens

characteristic: organism

text: Chinese

characteristic: race

text: Female

characteristic: sex

text: GM17811 female unaffected Human variation panel - han people of los angeles panel of 100 (version 2) sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 55 YR

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

characteristic: tag

text: ND28999 female unaffected Population/convenience control sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 50 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: HAN

characteristic: ethnicity

text: Homo sapiens

text: Chinese

text: Male

text: GM17812 male unaffected Human variation panel - han people of los angeles panel of 100 (version 2) sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 35 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: ND29000 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 46 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: description

text: HAN

text: Homo sapiens

text: Chinese

text: Male

text: GM17813 male unaffected Human variation panel - han people of los angeles panel of 100 (version 2) sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Epilepsy

text: 9 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: sibling

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Epilepsy

text: ND29002 female affected Epilepsy sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 45 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: HAN

text: Homo sapiens

text: Chinese

characteristic: race

text: Female

characteristic: sex

text: GM17814 female unaffected Human variation panel - han people of los angeles panel of 100 (version 2) sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 34 YR

text: B-Lymphocyte

text: NINDS Repository

text: parent

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: ND29005 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 28 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: HAN

characteristic: ethnicity

text: Homo sapiens

text: Chinese

text: Female

text: GM17815 female unaffected Human variation panel - han people of los angeles panel of 100 (version 2) sample

characteristic: title


text: Coriell

text: live

text: Generic

text: Epilepsy

text: 3 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy

text: ND29006 male affected Epilepsy sample


characteristic: DNA id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 47 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

characteristic: description

text: HAN

text: Homo sapiens

text: Chinese

text: Female

text: GM17816 female unaffected Human variation panel - han people of los angeles panel of 100 (version 2) sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 42 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: parent

text: Homo sapiens

characteristic: organism

text: More than one race

text: Male

text: ND29007 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 58 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: HAN

text: Homo sapiens

text: Chinese

characteristic: race

text: Female

characteristic: sex

text: GM17817 female unaffected Human variation panel - han people of los angeles panel of 100 (version 2) sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 38 YR

text: B-Lymphocyte

text: NINDS Repository

text: parent

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND29008 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 58 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: HAN

characteristic: ethnicity

text: Homo sapiens

text: Chinese

text: Male

text: GM17818 male unaffected Human variation panel - han people of los angeles panel of 100 (version 2) sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Epilepsy

text: 9 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: White/Caucasian | American Indian/Alaska Native

text: sibling

text: Homo sapiens

text: More than one race

text: Male

text: Epilepsy

text: ND29009 male affected Epilepsy sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 32 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;skin biopsy taken from the forearm;presented with adrenal insufficiency at age 24;slow decline in motor function with spastic weakness in the lower limbs associated with loss of vibration sense;MRI of the brain at age 30 was normal;began using a cane at age 28 and was wheel chair bound by age 30;clinical course characteristic of adrenomyeloneuropathy;mother and maternal grandmother are carriers;Southern blot analysis indicated that the donor subject has a deletion of exons 8-10 in the ATP-binding cassette;subfamily D;member 1 (ABCD1) gene.

characteristic: description

characteristic: gene

text: deletion of exons 8-10

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Adrenoleukodystrophy

text: ALD

text: Atp-binding cassette, subfamily d member 1

text: GM17819 male affected ABCD1 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: Epilepsy

text: 8 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: More than one race

characteristic: race

text: Female

text: Epilepsy

text: ND29010 female affected Epilepsy sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Obligate heterozygote;donor subject is heterozygous for an A>C transversion at nucleotide 854 of the ASPA gene 854A>C resulting in a substitution of alanine for glutamic acid at codon 285 Glu285Ala (E285A) .

text: POLISH

text: ASPA

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Canavan disease

characteristic: tag

text: Aspartoacylase

text: ASPA

text: GM17821 female unaffected Aspartoacylase sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Epilepsy

text: 17 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: sibling

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

text: ND29011 female affected Epilepsy sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: PKAN

text: 12 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;Amish of Swiss descent;severe dystonia;pigmentary retinopathy;progression to nonambulation early in the second decade;dysarthria;spasticity and rigidity;donor subject is homozygous for a 7-bp deletion in exon 2 of the PANK2 gene which results in a frameshift.

characteristic: description

text: AMISH/SWISS

characteristic: ethnicity

characteristic: gene

text: 7-BP DEL

text: Homo sapiens

text: Caucasian

text: Female

text: Pantothenate kinase-associated neurodegeneration

text: Hallervorden-spatz disease included

text: PKAN

text: Pantothenate kinase 2

text: GM17822 female affected PKAN sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: Epilepsy

text: 20 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Epilepsy

text: ND29012 female affected Epilepsy sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 33 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Han Chinese;all four grandparents are of Han ethnicity and were born in Taiwan;China;or Hong Kong

text: HAN

text: Homo sapiens

text: Chinese

text: Male

characteristic: sex

characteristic: tag

text: GM17823 male unaffected Human variation panel - han people of los angeles panel of 100 (version 2) sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Epilepsy

text: 22 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: Epilepsy

text: ND29013 female affected Epilepsy sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 64 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

characteristic: description

text: HAN

characteristic: ethnicity

text: Homo sapiens

text: Chinese

text: Male

text: GM17824 male unaffected Human variation panel - han people of los angeles panel of 100 (version 2) sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: Tourette syndrome

text: 9 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Tourette syndrome

text: ND29019 male affected Tourette syndrome sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 45 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: HAN

text: Homo sapiens

text: Chinese

characteristic: race

text: Male

text: GM17825 male unaffected Human variation panel - han people of los angeles panel of 100 (version 2) sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Tourette syndrome

text: 42 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Tourette syndrome

characteristic: tag

text: ND29020 male affected Tourette syndrome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 46 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: HAN

text: Homo sapiens

text: Chinese

text: Male

text: GM17826 male unaffected Human variation panel - han people of los angeles panel of 100 (version 2) sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 37 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND29021 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 61 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: description

text: HAN

characteristic: ethnicity

text: Homo sapiens

text: Chinese

text: Male

text: GM17827 male unaffected Human variation panel - han people of los angeles panel of 100 (version 2) sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Epilepsy

text: 28 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: More than one race

text: Female

text: Epilepsy

text: ND29027 female affected Epilepsy sample


characteristic: DNA id

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

text: HAN

text: Homo sapiens

text: Chinese

characteristic: race

text: Male

text: GM17828 male unaffected Human variation panel - han people of los angeles panel of 100 (version 2) sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Epilepsy

text: 10 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: sibling

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Epilepsy

characteristic: tag

text: ND29028 male affected Epilepsy sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 56 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Han Chinese;all four grandparents are of Han ethnicity and were born in Taiwan;China;or Hong Kong;son is GM17846

text: HAN

text: mother

text: Homo sapiens

text: Chinese

text: Female

text: GM17831 female unaffected Human variation panel - han people of los angeles panel of 100 (version 2) sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: Parkinson disease

text: 45 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Parkinson disease

text: ND29039 female affected Parkinson disease sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 21 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: description

text: HAN

characteristic: ethnicity

text: Homo sapiens

text: Chinese

text: Female

text: GM17833 female unaffected Human variation panel - han people of los angeles panel of 100 (version 2) sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 39 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: brother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: ND29040 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 21 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: HAN

text: Homo sapiens

text: Chinese

characteristic: race

text: Male

text: GM17835 male unaffected Human variation panel - han people of los angeles panel of 100 (version 2) sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 40 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

characteristic: tag

text: ND29041 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 62 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: HAN

text: father

text: Homo sapiens

text: Chinese

text: Male

text: GM17837 male unaffected Human variation panel - han people of los angeles panel of 100 (version 2) sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: 44 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: ND29042 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 46 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Han Chinese;all four grandparents are of Han ethnicity and were born in Taiwan;China;or Hong Kong

characteristic: description

text: HAN

characteristic: ethnicity

text: Homo sapiens

text: Chinese

text: Female

text: GM17838 female unaffected Human variation panel - han people of los angeles panel of 100 (version 2) sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 71 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: ND29043 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 64 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: HAN

text: Homo sapiens

text: Chinese

characteristic: race

text: Female

text: GM17839 female unaffected Human variation panel - han people of los angeles panel of 100 (version 2) sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 68 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

characteristic: tag

text: ND29044 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 64 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: HAN

text: Homo sapiens

text: Chinese

text: Female

text: GM17840 female unaffected Human variation panel - han people of los angeles panel of 100 (version 2) sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: 33 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: parent

text: Homo sapiens

text: Caucasian

text: Female

text: ND29046 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 57 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: description

text: HAN

characteristic: ethnicity

text: Homo sapiens

text: Chinese

text: Female

text: GM17841 female unaffected Human variation panel - han people of los angeles panel of 100 (version 2) sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Epilepsy

text: 3 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Epilepsy

text: ND29047 female affected Epilepsy sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: 29 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: HAN

text: Homo sapiens

text: Chinese

characteristic: race

text: Male

text: GM17842 male unaffected Human variation panel - han people of los angeles panel of 100 (version 2) sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 40 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: parent

text: Homo sapiens

text: Hispanic/Latino

text: Male

characteristic: sex

characteristic: tag

text: ND29048 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 30 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: HAN

text: Homo sapiens

text: Chinese

text: Female

text: GM17843 female unaffected Human variation panel - han people of los angeles panel of 100 (version 2) sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 36 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: parent

text: Homo sapiens

text: Caucasian

text: Female

text: ND29049 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 54 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: description

text: HAN

characteristic: ethnicity

text: Homo sapiens

text: Chinese

text: Female

text: GM17844 female unaffected Human variation panel - han people of los angeles panel of 100 (version 2) sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Epilepsy

text: 11 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Epilepsy

text: ND29050 female affected Epilepsy sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

text: 19 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: HAN

text: Homo sapiens

text: Chinese

characteristic: race

text: Male

text: GM17845 male unaffected Human variation panel - han people of los angeles panel of 100 (version 2) sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Epilepsy

text: 10 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: sibling

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Epilepsy

characteristic: tag

text: ND29051 male affected Epilepsy sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 21 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Han Chinese;all four grandparents are of Han ethnicity and were born in Taiwan;China;or Hong Kong;this subject was in the original Han Chinese Panel of 100;but was removed in Version 2 of the panel due to unexpected relatedness;he is the son of GM17837 and GM17831

text: HAN

text: proband

text: Homo sapiens

text: Chinese

text: Male

text: Chinese population

text: GM17846 male unaffected Chinese population sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: Epilepsy

text: 14 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: sibling

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy

text: ND29052 male affected Epilepsy sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 55 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: description

text: HAN

characteristic: ethnicity

text: Homo sapiens

text: Chinese

text: Female

text: GM17847 female unaffected Human variation panel - han people of los angeles panel of 100 (version 2) sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Epilepsy

text: 2 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: More than one race

text: Male

text: Epilepsy

text: ND29055 male affected Epilepsy sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

text: 24 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Han Chinese;all four grandparents are of Han ethnicity and were born in Taiwan;China;or Hong Kong

text: HAN

text: Homo sapiens

text: Chinese

characteristic: race

text: Male

text: GM17850 male unaffected Human variation panel - han people of los angeles panel of 100 (version 2) sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Epilepsy

text: 6 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Epilepsy

characteristic: tag

text: ND29057 female affected Epilepsy sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 25 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: HAN

text: Homo sapiens

text: Chinese

text: Male

text: GM17852 male unaffected Human variation panel - han people of los angeles panel of 100 (version 2) sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 38 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: parent

text: Homo sapiens

text: More than one race

text: Female

text: ND29059 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 46 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: description

text: HAN

characteristic: ethnicity

text: Homo sapiens

text: Chinese

text: Male

text: GM17853 male unaffected Human variation panel - han people of los angeles panel of 100 (version 2) sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 40 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: parent

text: Homo sapiens

characteristic: organism

text: More than one race

text: Male

text: ND29060 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 53 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: HAN

text: Homo sapiens

text: Chinese

characteristic: race

text: Male

text: GM17854 male unaffected Human variation panel - han people of los angeles panel of 100 (version 2) sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 72 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

characteristic: tag

text: ND29063 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 23 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: HAN

text: Homo sapiens

text: Chinese

text: Male

text: GM17855 male unaffected Human variation panel - han people of los angeles panel of 100 (version 2) sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: 47 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: ND29064 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 23 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: description

text: HAN

characteristic: ethnicity

text: Homo sapiens

text: Chinese

text: Male

text: GM17856 male unaffected Human variation panel - han people of los angeles panel of 100 (version 2) sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Epilepsy

text: 6 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Epilepsy

text: ND29065 male affected Epilepsy sample


characteristic: DNA id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 21 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;low birth weight;taking testosterone;small penis;small testes;hypoplastic tubules;diminished Leydig cells;cryptorchidism;other medical problems include: schizoaffective disorder (mixed type);alcohol and drug abuse;chronic ear infections and pneumonias;migraines;testicle removal due to abnormal growth

text: IRISH/ENGLISH/POLISH/SCOTTISH

characteristic: karyotype

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Klinefelter syndrome

text: Xxy syndrome

text: GM17857 male affected Aneuploid chromosome number - non-trisomic sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 36 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: parent

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

characteristic: tag

text: ND29066 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: 15 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: XPH312BE;clinically normal;many pigmented nevi on back;affected brother is GM17861

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: XPC

text: GM17858 male unaffected Xeroderma pigmentosum, complementation group c sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 40 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: parent

text: Homo sapiens

text: Caucasian

text: Female

text: ND29067 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 35 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: XPH311BE;mother of an affected child (GM17861);multiple nevi;sun sensitivity;donor subject has an A>T transversion at nucleotide 2179 in exon 10 of the XPC gene (2179A>T) resulting in a substitution of a termination codon for lysine at codon 692 Lys692Ter (K692X)

characteristic: description

text: mother

text: XPC

characteristic: gene

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: XPC

text: GM17860 female unaffected Xeroderma pigmentosum, complementation group c sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: Epilepsy

text: 21 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: sibling

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Epilepsy

text: ND29068 female affected Epilepsy sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 10 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: XP54BE;clinically affected;marked sun sensitivity;burning within 5 minutes of sun exposure at age 1 year;marked freckling of exposed skin areas;no neurologic abnormalities;>20 basal cell carcinomas of the face and eyelids;11% of normal DNA excision repair;donor subject is a compound heterozygote: the maternal allele has an A>T transversion at nucleotide 2179 in exon 10 of the XPC gene (2179A>T) resulting in a substitution of a termination codon for lysine at codon 692 Lys692Ter (K692X);the mutation on the paternal allele is not identified

text: proband

text: XPC

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

characteristic: tag

text: XPC

text: GM17861 male affected Xeroderma pigmentosum, complementation group c sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Epilepsy

text: 19 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy

text: ND29070 male affected Epilepsy sample

characteristic: title


characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Klinefelter syndrome

text: 23 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;taking testosterone;low birth weight;small penis;small testes;hypoplastic tubules;diminished Leydig cells;cryptorchidism as infant;other medical problems include: delayed speech;alcohol and drug abuse;attention deficit hyperactivity disorder

text: IRISH/ENGLISH

characteristic: ethnicity

text: 47;XXY;47;XXY.arr Xp22.33q28(109805-154887040)x2

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Klinefelter syndrome

text: Copy number variation (cnv) reference panel

text: Xxy syndrome

text: Aneuploid chromosome number - non-trisomic

text: GM17867 male affected Klinefelter syndrome sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: Parkinson disease

text: 52 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Parkinson disease

text: ND29082 male affected Parkinson disease sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 21 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;four year history of gradual increased pain and decreased function of shoulders leading to a left scapular fusion;D4Z4 repeats for this donor subject are as follows: 4q35: 5/31 (clinically unaffected individuals usually have >10 D4Z4 repeats on both alleles at chromosome 4q35) and 10q26: 5/39 copies;a myoblast culture from this same donor is GM17869

characteristic: description

text: proband

characteristic: gene

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

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Fshmd1a (fshd)

text: Fshd gene 1

text: Facioscapulohumeral muscular dystrophy 1a

text: GM17868 female affected FRG1 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 39 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: son

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

characteristic: tag

text: ND29083 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 21 YR

text: Myoblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;culture derived from an orthopedic scapular fixation of scapular and subscapularis muscle;four year history of gradual increased pain and decreased function of shoulders leading to a left scapular fusion;D4Z4 repeats for this donor subject are as follows: 4q35: 5/31 (clinically unaffected individuals usually have >10 D4Z4 repeats on both alleles at chromosome 4q35) and 10q26: 5/39 copies;at the CCR 68% of the cells at passage 2 tested positive for the myoblast-specific marker Desmin;as cited in Tam et al J Cell Biol 167:269-279 (2004);50% of the cells in this culture tested positive for the cell surface marker (5.1H11) expressed in myoblasts and myotubes;25% were positive for the muscle marker myoD;17% fused into multinucleated myotubes six days after shifting to differentiation medium;and 47% were lacking the fibroblast-specific marker AS02;cells showed some cell death during myotube differentiation;this culture is a mixture of myoblasts and fibroblasts;myoblasts predominate upon recovery;but fibroblasts take over with increasing passage;lifespan reached 18 population doublings at senescence;a lymphoblast culture from this same donor is GM17868;culture will only be shipped out frozen

text: proband

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

text: Homo sapiens

text: Caucasian

text: Female

text: Fshmd1a (fshd)

text: Fshd gene 1

text: GM17869 female affected FRG1 sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

text: 36 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: daughter

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND29084 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 38 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;small penis;taking testosterone;small testes;hypoplastic tubules;diminished Leydig cells;obesity;delayed speech;childhood attention deficit hyperactivity disorder and pyromania;bipolar disorder type II;anti-social personality disorder

characteristic: description

text: 47;XXY;47;XXY 49 /48;XXXY 1

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Klinefelter syndrome

text: Xxy syndrome

text: GM17879 male affected Aneuploid chromosome number - non-trisomic sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Parkinson disease

text: 70 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Parkinson disease

text: ND29085 female affected Parkinson disease sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: RTT

text: 5 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Growth and developmental delay;can walk only with assistance;nonverbal;no hand use;constant repetitive hand motions;no seizures;but significantly abnormal EEG;teeth grinding;some sleep difficulties;eating problems with minor reflux;breath holding and hyperventilation;small feet;some tremor;this culture had a lifespan of 56 population doublings (PDLs);the donor subjects carries a C>T transition at nucleotide 473 (ACG>ATG) in exon 3 of the gene encoding methyl-CpG binding protein 2 (MECP2) resulting in the substitution of threonine 158 by methionine Thr158Met (T158M) in the methyl-binding domain;see GM16271 (lymphocyte)

text: proband

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

characteristic: tag

text: RTT

text: Methyl-cpg-binding protein 2

text: Rett syndrome

text: GM17880 female affected RTT 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 model

text: 31 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: ND29086 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: Hermansky-pudlak syndrome gene 6

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Flemish;clinically affected;type VI;albinism;severe visual handicap;bleeding tendency;frequent nosebleeds;subcutaneous hematomas;bleeding time: 6 minutes 30 seconds (mildly prolonged);visual acuity is 1/20 bilateral;younger brother is also affected;donor subject is homozygous for a frameshift deletion (1714delCTGT) of the HPS6 gene;which is the human homologue of mouse ruby-eye (ru)

characteristic: description

text: FLEMISH

characteristic: ethnicity

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Hermansky-pudlak syndrome gene 6

text: HPS

text: Hermansky-pudlak syndrome

text: GM17881 female affected Hermansky-pudlak syndrome gene 6 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 41 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: daughter

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: ND29087 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: 26 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;taking testosterone;small penis;small testes;hypoplastic tubules;diminished Leydig cells;bifid scrotum;hypothyroidism (Hashimoto disease);testicle removed

text: GREEK/POLISH/GERMAN/JEWISH

text: 47;XXY 47 /46;XY 3;47;XXY 49 /46;XY 1

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Klinefelter syndrome

characteristic: tag

text: Xxy syndrome

text: GM17883 male affected Aneuploid chromosome number - non-trisomic sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 57 YR

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: ND29088 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: 4 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;nystagmus;lifelong reduced visual acuity;iris transillumination;ocular albinism;interstitial pulmonary fibrosis;restrictive lung disease;albinism with tanning possible;bleeding diathesis;absent dense bodies in platelets;easily bruised;epicanthal folds;slightly low set posteriorly rotated ears;retrognathia;pendular horizontal nystagmus;patient #87 in Huizing et al (Ped. Res. 51:150-158;2002);donor subject is a compound heterozygote: one allele carries a C-to-T transition at nucleotide 1578 (C1578T) in exon 15 of the AP3B1 gene which results in a nonsense mutation ARG509TER (R509X);a second allele carries a G-to-T transition at nucleotide 2028 (G2028T) in exon 18 which results in a second nonsense mutation GLU659TER (E659X) .

characteristic: description

text: CAJUN/HOUMA INDIAN/AFRICAN-AMERICAN

characteristic: ethnicity

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Other

text: Male

text: Hermansky-pudlak syndrome 2

text: Adaptor-related protein complex 3, beta-1 subunit

text: GM17890 male affected HPS2 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 75 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

characteristic: family id

text: sister

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: ND29092 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 25 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Korean;clinically normal;extremely large 1qh region

text: KOREAN

characteristic: karyotype

text: Homo sapiens

text: Korean

text: Male

characteristic: sex

text: Apparently healthy non-fetal tissue

characteristic: tag

text: Normal chromosomal polymorphism

text: GM17894 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 30 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: parent

text: Homo sapiens

text: More than one race

text: Male

text: ND29093 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Frontonasal dysplasia

text: 9 MO

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Hypertelorism;notched nasal tip;absent nasal bridge and septum

characteristic: description

text: Homo sapiens

text: Hispanic/Latino

text: Male

text: Frontonasal dysplasia

text: GM17895 male affected Frontonasal dysplasia sample


text: Coriell

text: live

text: Generic

text: 29 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

characteristic: family id

text: parent

text: Homo sapiens

text: More than one race

text: Female

text: ND29094 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Cleidocranial dysplasia

text: 48 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Short stature;clavicle dysplasia;supernumerary teeth;affected daughter is GM17897

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: CCD

text: Cleidocranial dysplasia

text: GM17896 female affected Cleidocranial dysplasia sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 53 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: ND29107 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: Cleidocranial dysplasia

text: 24 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Short stature;clavicle dysplasia;supernumerary teeth;affected mother is GM17896

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: CCD

characteristic: tag

text: Cleidocranial dysplasia

text: GM17897 female affected Cleidocranial dysplasia sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Epilepsy

text: 32 YR

text: B-Lymphocyte

text: NINDS Repository

text: sibling

text: Homo sapiens

text: More than one race

text: Male

text: Epilepsy

text: ND29110 male affected Epilepsy sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 60 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;history of progressive upper and lower limb weakness;bifacial weakness;scapular winging;elevated serum CPK;muscle biopsy showed myopathic changes;D4Z4 repeats for this donor subject are as follows: 4q35: 4/9 (clinically unaffected individuals usually have >10 D4Z4 repeats on both alleles at chromosome 4q35) and 10/36 copies

text: proband

characteristic: gene

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

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Fshmd1a (fshd)

text: Fshd gene 1

text: Facioscapulohumeral muscular dystrophy 1a

text: GM17898 male affected FRG1 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Epilepsy

text: 20 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: sibling

text: Homo sapiens

text: Asian

text: Female

text: Epilepsy

text: ND29111 female affected Epilepsy sample

characteristic: title


text: Coriell

text: live

text: Generic

text: Apert syndrome

text: 11 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Craniosynostosis;midfacial hypoplasia;anal atresis;mental retardation;cutaneous syndactyly of all four limbs

characteristic: description

text: Homo sapiens

text: Hispanic/Latino

text: Male

text: Apert syndrome

text: GM17903 male affected Apert syndrome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Epilepsy

text: 16 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Asian

characteristic: race

text: Female

text: Epilepsy

text: ND29112 female affected Epilepsy 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 affected;taking testosterone;major depressive episode;but now in full remission;Osgood Schlatters left knee;pes planus;epiphyseal dysplasia;small penis;small testes;hypoplastic tubules;diminished Leydig cells;myopia;numerous extractions due to decay;gynecomastectomy;scoliosis;surgery to lenghthen tendons of little toes and right little toe amputated;migraines with visual disturbance;Gilberts syndrome;prostate removed;fibroid tumor removed from left middle finger

text: IRISH/ENGLISH

characteristic: ethnicity

text: 47;XXY 39 /46;XX;dic(Y;18)(Ypter>Yq12::18q23>18pter) 2 /46;XX 2 /46;XY 7

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Klinefelter syndrome

characteristic: tag

text: Xxy syndrome

text: GM17906 male affected Aneuploid chromosome number - non-trisomic sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 40 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: parent

text: Homo sapiens

text: More than one race

text: Male

text: ND29113 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 19 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;taking testosterone;small penis;small testes;hypoplastic tubules;diminished Leydig cells;myopia;teeth did not come in until 10 months of age;immune thrombocytopenia purpura (ITP);Sjogren's syndrome;dry eyes and inability to produce tears;orthostatic hypertension;stomach ulcers;muscular rheumatoid arthritis;attention deficit hyperactivity disorder;major depressive episode;but now in full remission

characteristic: description

text: IRISH/ENGLISH

text: 47;XXY 48 /46;XX 1 /46;XY 1;48;XXYY 1 /47;XXY 49

text: Homo sapiens

text: Caucasian

text: Male

text: Klinefelter syndrome

text: Xxy syndrome

text: GM17908 male affected Aneuploid chromosome number - non-trisomic sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 36 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: parent

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: ND29114 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;diagnosed at age 7 mo;deceased at age 10 yr;family history of NPC;clumsy;learning difficulties;normal hearing;ataxia;vertical gaze palsy;dysarthria;cataplexy;dysphagia;breathing difficulties;pneumonia;epilepsy (grand mal seizures);walks with assistance while outside only;constant difficulty swallowing;fibroblasts showed 40 pmol CE/mg protein/6 hr activity in a cholesterol esterification assay normal mean was 1855 +/- 1327 pmol CE/mg protein/6 hr;see Park et al. Hum Mut 22:313-325 (2003);fibroblasts were scored as npc-like in a filipin staining assay (see Park et al.;2003);a complementation test showed that the cells were of the type 1 complementation group (see Park et al.;2003);the donor subject is a compound heterozygote at the NPC1 gene locus: allele 1 carries a substitution (T>C) at nucleotide 3182 (c.3182T>C) in exon 21;resulting in a missense mutation at codon 1061 I1061T (ILE1061THR);allele 2 carries a substitution (C>T) at nucleotide 3107 (c.3107C>T) in exon 21;resulting in a missense mutation at codon 1036 T1036M (THR1036MET);the subject also carries the following polymporphisms: T>C at nucleotide 387 (c.387T>C) resulting in no change (Y>Y) at codon 129 Y129Y;(TYR129TYR);A>G at nucleotide 644 (c.644A>G) resulting in the substitution of arginine for histidine (H>R) at codon 215 H215R (HIS215ARG);and A>G at nucleotide 2572 (c.2572A>G) resulting in a substitution of valine for isoleucine (I>V) at codon 858 I858V (ILE858VAL);the first nucleotide of the initiating Met codon is numbered +1.

text: proband

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Npc1 gene

text: Niemann-pick disease type c1

text: GM17911 male affected NPC1 sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Epilepsy

text: 21 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Epilepsy

characteristic: tag

text: ND29123 female affected Epilepsy sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;diagnosed at age 11 yr;deceased at age 19 yr;neonatal jaundice;clumsy;learning difficulties;ataxia;dysarthria;dysphagia;gastrostomy;seizures;wheelchair bound;severe movement difficulties;absent communication;tube fed;fibroblasts showed 633 pmol CE/mg protein/6 hr activity in a cholesterol esterification assay normal mean was 1855 +/- 1327 pmol CE/mg protein/6 hr;see Park et al. Hum Mut 22:313-325 (2003);fibroblasts were scored as other/type 1 in a filipin staining assay (see Park et al.;2003);a complementation test showed that the cells were of the other/type 1 complementation group (see Park et al.;2003);the donor subject is a compound heterozygote at the NPC1 gene locus: allele 1 carries a substitution (C>G) at nucleotide 3019 (c.3019C>G) in exon 20;resulting in a missense mutation at codon 1007 P1007A (PRO1007ALA);allele 2 carries a substitution (C>T) at nucleotide 3107 (c.3107C>T) in exon 21;resulting in a missense mutation at codon 1036 T1036M (THR1036MET);the subject also carries the following polymporphisms: A>G at nucleotide 644 (c.644A>G) resulting in the substitution of arginine for histidine (H>R) at codon 215 H215R (HIS215ARG);A>G at nucleotide IVS11+60 (IVS11+60A>G) resulting in no change in the predicted amino acid sequence;C>T at nucleotide 2793 (c.2793C>T) resulting in no change (N>N) at codon 931 N931N (ASN931ASN);and T>C at nucleotide IVS19+28 (IVS19+28T>C) resulting in no change in the predicted amino acid sequence;the first nucleotide of the initiating Met codon is numbered +1.

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Npc1 gene

text: Niemann-pick disease type c1

text: GM17912 female affected NPC1 sample


text: Coriell

text: live

text: Generic

text: Epilepsy

text: 20 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy

text: ND29126 male affected Epilepsy sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 23 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;diagnosed at 21 year;alive at 35 year;splenomegaly discovered at age 4 year;clumsy;learning difficulties;hearing problems;wears bilateral hearing aids;ataxia;vertical gaze palsy;dysarthria;dysphagia;gastrostomy;epilepsy;psychiatric disorders;sleeping problems;wheelchair bound;severe difficulty with movement;absence of communication;severe spasticity;fibroblasts showed 117 pmol CE/mg protein/6 hr activity in a cholesterol esterification assay normal mean was 1855 +/- 1327 pmol CE/mg protein/6 hr;see Park et al. Hum Mut 22:313-325 (2003);the donor subject is a compound heterozygote at the NPC1 gene locus: allele 1 carries a substitution (T>C) at nucleotide 3182 (c.3182T>C) in exon 21;resulting in a missense mutation at codon 1061 I1061T (Ile1061Thr);allele 2 carries a substitution (G>A) at nucleotide 3493 (c.3493G>A) in exon 23;resulting in a missense mutation at codon 1165 V1165M (Val1165Met);the subject also carries the following polymporphism: T>C at nucleotide 387 (c.387T>C) resulting in no change (Y>Y) at codon 129 Y129Y;(Tyr129Tyr);the first nucleotide of the initiating Met codon is numbered +1.

characteristic: description

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Npc1 gene

text: Niemann-pick disease type c1

text: GM17913 male affected NPC1 sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 55 YR

text: B-Lymphocyte

text: NINDS Repository

text: parent

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: ND29128 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 7 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;ataxia;developmental regressions;superior gaze palsy;fibroblasts showed no detectable activity in a cholesterol esterification assay;the donor subject is a compound heterozygote at the NPC1 gene locus: allele 1 carries a substitution (T>C) at nucleotide 3182 (c.3182T>C) in exon 21;resulting in a missense mutation at codon 1061 I1061T (ILE1061THR);allele 2 carries a 2 bp insertion mutation (insGA) at nucleotide 424 (c.424_425insGA;424insGA) in exon 4 resulting in a frameshift;the first nucleotide of the initiating Met codon is numbered +1.

text: proband

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: African American

text: Female

text: Npc1 gene

text: Niemann-pick disease type c1

text: GM17914 female affected NPC1 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Epilepsy

text: 11 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Epilepsy

characteristic: tag

text: ND29129 female affected Epilepsy sample


text: Coriell

text: live

text: Generic

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;diagnosed at 10 yr;deceased at 14 yr;brother with NPC;clumsy;learning difficulties;ataxia;vertical gaze palsy;dysarthria;cataplexy;dysphagia;gastrostomy;breathing difficulties;repeated pneumonia;epilepsy;wheelchair bound;severe difficulty with movement;absence of communication;tube fed;fibroblasts showed 76 pmol CE/mg protein/6 hr activity in a cholesterol esterification assay normal mean was 1855 +/- 1327 pmol CE/mg protein/6 hr;see Park et al. Hum Mut 22:313-325 (2003);fibroblasts were scored as NA in a filipin staining assay (see Park et al.;2003);the donor subject is a compound heterozygote at the NPC1 gene locus: allele 1 carries a substitution (C>T) at nucleotide 410 (c.410C>T) in exon 4 resulting in a missense mutation at codon 137 T137M (THR137MET);allele 2 carries an insertion (insT) at nucleotide 2336 (c.2336insT) in exon 15;the subject also carries the following polymorphism: (T>C) at nucleotide 387 (c.387T>C) resulting in no change (Y>Y) at codon 129 Y129Y;(TYR129TYR);the first nucleotide of the initiating Met codon is numbered +1;culture is a slow grower

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Npc1 gene

text: Niemann-pick disease type c1

text: GM17918 female affected NPC1 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Epilepsy

text: 10 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: sibling

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

text: ND29130 female affected Epilepsy sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 5 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;diagnosed at 4 yr 6 mo;splenomegaly at birth;clumsy;learning difficulties;normal hearing;ataxia;vertical gaze palsy;dysarthria;cataplexy;dysphagia;gastrostomy;breathing difficulties;epilepsy (grand mal seizures);wheelchair bound;the cell line was tested for cholesterol esterification and filipin staining and was abnormal;the donor subject is a compound heterozygote at the NPC1 gene locus: allele 1 carries a substitution (T>C) at nucleotide 3182 (c.3182T>C) in exon 21;resulting in a missense mutation at codon I1061T (ILE1061THR);allele 2 carries a substitution (C>T) at nucleoside 1298 (c.1298C>T) in exon 8;resulting in a missense mutation at codon 433 P433L (PRO433LEU);the subject also carries the following polymorphisms: T>C at nucleotide 387 (c.387T>C) resulting in no change (Y>Y) at codon 129 Y129Y;(TYR129TYR);A>G at nucleotide 644 (c.644A>G) resulting in the substitution of arginine for histidine (H>R) at codon 215 H215R (HIS215ARG);A>G at nucleotide IVS11+60 (IVS11+60A>G) resulting in no change in the predicted amino acid sequence;C>T at nucleotide 2793 (c.2793C>T) resulting in no change (N>N) at codon 931 N931N (ASN931ASN);T>C at nucleotide IVS19+28 (IVS19+28T>C) resulting in no change in the predicted amino acid sequence;the first nucleotide of the initiating Met codon is numbered +1.

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Npc1 gene

text: Niemann-pick disease type c1

text: GM17921 male affected NPC1 sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Epilepsy

text: 21 YR

text: B-Lymphocyte

text: NINDS Repository

text: sibling

text: Homo sapiens

characteristic: organism

text: Male

text: Epilepsy

text: ND29131 male affected Epilepsy sample