text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Epilepsy

text: 31 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: More than one race

text: Female

characteristic: sex

text: Epilepsy

text: ND23810 female affected Epilepsy sample

characteristic: title


status: PUBLIC

characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

tag: attribute

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Father

characteristic: description

text: AMISH

characteristic: ethnicity

characteristic: family id

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Ceph/amish pedigree 884

characteristic: tag

text: GM13113 male unaffected Ceph/amish pedigree 884 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Epilepsy

text: 32 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: sibling

text: Homo sapiens

text: More than one race

text: Female

text: Epilepsy

text: ND23811 female affected Epilepsy sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Mother

text: AMISH

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Ceph/amish pedigree 884

text: GM13114 female unaffected Ceph/amish pedigree 884 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: Epilepsy

text: 5 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy

text: ND23813 male affected Epilepsy sample


text: Coriell

text: live

text: Generic

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Maternal Grandfather

characteristic: description

text: AMISH

text: maternal grandfather

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/amish pedigree 884

text: GM13115 male unaffected Ceph/amish pedigree 884 sample


text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 45 YR

text: B-Lymphocyte

text: NINDS Repository

text: Puerto Rico

characteristic: ethnicity

characteristic: family id

text: father

text: Homo sapiens

characteristic: organism

text: Other

characteristic: race

text: Male

text: Tourette syndrome

text: ND23815 male affected Tourette syndrome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Maternal Grandmother

text: AMISH

text: maternal grandmother

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/amish pedigree 884

characteristic: tag

text: GM13116 female unaffected Ceph/amish pedigree 884 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 45 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Tourette syndrome

text: ND23816 female affected Tourette syndrome sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Daughter

text: AMISH

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/amish pedigree 884

text: GM13117 female unaffected Ceph/amish pedigree 884 sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Tourette syndrome

text: 17 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: 1/2 hispanic 1/2 caucasian

text: proband

text: Homo sapiens

text: More than one race

text: Male

text: Tourette syndrome

text: ND23817 male affected Tourette syndrome sample


text: Coriell

text: live

text: Generic

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Daughter

characteristic: description

text: AMISH

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/amish pedigree 884

text: GM13118 female unaffected Ceph/amish pedigree 884 sample


text: Coriell

text: live

text: Generic

text: Essential tremor-movement disorder

text: 37 YR

text: B-Lymphocyte

text: NINDS Repository

text: Homo sapiens

characteristic: organism

text: Other

text: Male

text: Essential tremor-movement disorder

text: ND23818 male affected Essential tremor-movement disorder sample


text: Coriell

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Daughter

text: AMISH

characteristic: ethnicity

characteristic: family id

text: daughter

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Ceph/amish pedigree 884

text: GM13119 female unaffected Ceph/amish pedigree 884 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Epilepsy

text: 21 MO

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy

characteristic: tag

text: ND23824 male affected Epilepsy sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son

text: AMISH

text: son

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Ceph/amish pedigree 884

text: GM13120 male unaffected Ceph/amish pedigree 884 sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 34 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND23825 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son

text: AMISH

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/amish pedigree 884

text: GM13121 male unaffected Ceph/amish pedigree 884 sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 30 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: White/Caucasian|Native American

text: parent

text: Homo sapiens

text: Caucasian

text: Female

text: ND23827 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son

characteristic: description

text: AMISH

characteristic: ethnicity

text: son

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Ceph/amish pedigree 884

text: GM13122 male unaffected Ceph/amish pedigree 884 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Epilepsy

text: 6 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Epilepsy

text: ND23828 male affected Epilepsy sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Daughter

text: AMISH

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/amish pedigree 884

characteristic: tag

text: GM13123 female unaffected Ceph/amish pedigree 884 sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Parkinson disease

text: 62 YR

text: B-Lymphocyte

text: NINDS Repository

text: Homo sapiens

text: Other

text: Male

characteristic: sex

text: PD

text: Parkinson disease

text: ND23831 male affected Parkinson disease sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Daughter

text: AMISH

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/amish pedigree 884

text: GM13124 female unaffected Ceph/amish pedigree 884 sample


text: Coriell

text: live

text: Generic

text: Epilepsy

text: 53 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Homo sapiens

text: Other

text: Male

text: Epilepsy

text: ND23832 male affected Epilepsy sample

characteristic: title


text: Coriell

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Son

characteristic: description

text: AMISH

characteristic: ethnicity

text: son

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Ceph/amish pedigree 884

text: GM13125 male unaffected Ceph/amish pedigree 884 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 37 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: ND23840 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

characteristic: NCBI submission package

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son

text: AMISH

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/amish pedigree 884

characteristic: tag

text: GM13126 male unaffected Ceph/amish pedigree 884 sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Tourette syndrome

text: 9 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Tourette syndrome

text: ND23841 male affected Tourette syndrome sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Daughter

text: AMISH

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/amish pedigree 884

text: GM13127 female unaffected Ceph/amish pedigree 884 sample


text: Coriell

text: live

text: Generic

text: Ischemic stroke

text: 68 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: father

text: Homo sapiens

text: Other

text: Male

text: Transient ischemic attack

text: Ischemic stroke

text: ND23842 male affected Ischemic stroke sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Daughter

characteristic: description

text: AMISH

characteristic: ethnicity

text: daughter

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Ceph/amish pedigree 884

text: GM13128 female unaffected Ceph/amish pedigree 884 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Daughter

text: UTAH/MORMON

characteristic: family id

text: daughter

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Ceph/utah pedigree 1332

text: GM13130 female unaffected Ceph/utah pedigree 1332 sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: Progressive supranuclear palsy

text: 74 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Progressive supranuclear palsy

characteristic: tag

text: ND23843 female affected Progressive supranuclear palsy sample


characteristic: DNA id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Daughter

text: UTAH/MORMON

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Ceph/utah pedigree 1357

text: GM13131 female unaffected Ceph/utah pedigree 1357 sample


text: Coriell

text: live

text: Generic

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Daughter

text: UTAH/MORMON

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/utah pedigree 1357

text: GM13132 female unaffected Ceph/utah pedigree 1357 sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 74 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: husband

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: ND23844 male unaffected Population/convenience control sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Maternal Grandfather

characteristic: description

text: UTAH/MORMON

characteristic: ethnicity

text: maternal grandfather

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Ceph/utah pedigree 1356

text: GM13133 male unaffected Ceph/utah pedigree 1356 sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

text: Progressive supranuclear palsy

text: 65 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Progressive supranuclear palsy

text: ND23845 female affected Progressive supranuclear palsy sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: Fanconi anemia, complementation group c

text: 6 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;complementation group C;pancytopenia;classical symptoms;fibroblasts show increased incidence of chromatid breaks and gaps following X-ray irradiation during G2;adeno-SV40 hybrid virus 1613 transformed GM00449 fibroblast.

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Fanconi anemia, complementation group c

characteristic: tag

text: FANCC

text: GM13136 female affected Fanconi anemia, complementation group c sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 65 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: husband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Population/convenience control

text: ND23846 male unaffected Population/convenience control sample


text: Coriell

text: live

text: Generic

text: Glycogen storage disease ii

text: 15 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Deficient acid-alpha-1;4 glucosidase activity (1%)

text: FILIPINO

text: Homo sapiens

text: Caucasian

text: Male

text: Glycogen storage disease ii

text: GM13138 male affected Glycogen storage disease ii sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 53 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND23863 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 42 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: XP32BE;marked sun sensitivity;more than 20 basal cell carcinomas;8 malignant melanomas;deafness;progressive neurologic deterioration;see GM13142 Fibroblast

characteristic: description

text: brother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: XPD

text: GM13141 male affected Xeroderma pigmentosum, complementation group d sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

text: 53 YR

text: B-Lymphocyte

text: NINDS Repository

text: Half French Canadian

characteristic: ethnicity

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND23864 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 42 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: XP32BE;marked sun sensitivity;more than 20 basal cell carcinomas;8 malignant melanomas;deafness;progressive neurologic deterioration;see GM13141 Lymphoid

characteristic: family id

text: brother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: XPD

text: GM13142 male affected Xeroderma pigmentosum, complementation group d sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: Tourette syndrome

text: 22 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

characteristic: tag

text: ND23865 male affected Tourette syndrome sample


text: Coriell

text: live

text: Generic

text: 45 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Amish;clinically unaffected;2 affected children;spouse of GM13148;affected son is GM13199 Fibroblast

text: AMISH

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: GM13147 female unaffected Cholestasis, progressive familial intrahepatic 1 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 47 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND23866 male affected Tourette syndrome sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 45 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Amish;clinically unaffected;2 affected children;spouse of GM13147;affected son is GM13199 Fibroblast

characteristic: description

text: AMISH

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: GM13148 male unaffected Cholestasis, progressive familial intrahepatic 1 sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

text: Progressive supranuclear palsy

text: 71 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Progressive supranuclear palsy

text: ND23868 female affected Progressive supranuclear palsy sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Xeroderma pigmentosum, variant type

text: 47 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: XP31BE;consanguineous parents;multiple skin cancers including basal cell carcinomas and melanomas;poor dentition;loss of scalp hair;see GM13155 Fibroblast

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Xeroderma pigmentosum, variant type

text: XPV

text: GM13154 male affected Xeroderma pigmentosum, variant type sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 73 YR

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Population/convenience control

text: ND23869 male unaffected Population/convenience control sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Xeroderma pigmentosum, variant type

text: 47 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: XP31BE;consanguineous parents;multiple skin cancers including basal cell carcinomas and melanomas;poor dentition;loss of scalp hair;see GM13154 Lymphoid

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Xeroderma pigmentosum, variant type

characteristic: tag

text: XPV

text: GM13155 male affected Xeroderma pigmentosum, variant type sample


text: Coriell

text: live

text: Generic

text: 44 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND23876 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: Rubinstein-taybi syndrome

text: 34 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Mild mental retardation;large nose;broad thumbs and great toes;a daughter is also affected;46;XX in PBL

text: proband

text: Homo sapiens

text: Black

text: Female

characteristic: sex

text: RSTS

text: Rubinstein-taybi syndrome

text: GM13164 female affected Rubinstein-taybi syndrome sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 34 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND23877 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Father Same as 104-15

characteristic: description

text: VENEZUELAN

characteristic: ethnicity

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/venezuelan pedigree 102

text: GM13180 male unaffected Ceph/venezuelan pedigree 102 sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

text: Tourette syndrome

text: 10 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Tourette syndrome

text: ND23878 male affected Tourette syndrome sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Mother Same as 104-16

text: VENEZUELAN

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Ceph/venezuelan pedigree 102

text: GM13181 female unaffected Ceph/venezuelan pedigree 102 sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 87 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinson disease

characteristic: tag

text: ND23880 male affected Parkinson disease sample


characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Daughter

text: VENEZUELAN

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Ceph/venezuelan pedigree 102

text: GM13182 female unaffected Ceph/venezuelan pedigree 102 sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 85 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND23881 female unaffected Population/convenience control sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son

characteristic: description

text: VENEZUELAN

characteristic: ethnicity

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/venezuelan pedigree 102

text: GM13183 male unaffected Ceph/venezuelan pedigree 102 sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: Epilepsy

text: 11 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: sibling

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Epilepsy

text: ND23883 female affected Epilepsy sample


text: Coriell

text: live

text: Generic

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Daughter Same as 104-02

text: VENEZUELAN

characteristic: family id

text: daughter

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Ceph/venezuelan pedigree 102

text: GM13184 female unaffected Ceph/venezuelan pedigree 102 sample


characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Daughter

text: VENEZUELAN

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/venezuelan pedigree 102

characteristic: tag

text: GM13185 female unaffected Ceph/venezuelan pedigree 102 sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Epilepsy

text: 11 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Epilepsy

text: ND23884 female affected Epilepsy sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son

characteristic: description

text: VENEZUELAN

characteristic: ethnicity

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/venezuelan pedigree 102

text: GM13187 male unaffected Ceph/venezuelan pedigree 102 sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son

text: VENEZUELAN

text: son

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Ceph/venezuelan pedigree 102

text: GM13188 male unaffected Ceph/venezuelan pedigree 102 sample


text: Coriell

text: live

text: Generic

text: 48 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Italian

characteristic: family id

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND23893 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Daughter

text: VENEZUELAN

text: daughter

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Ceph/venezuelan pedigree 102

text: GM13189 female unaffected Ceph/venezuelan pedigree 102 sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 42 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

characteristic: tag

text: ND23894 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son

characteristic: description

text: VENEZUELAN

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/venezuelan pedigree 102

text: GM13190 male unaffected Ceph/venezuelan pedigree 102 sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: Tourette syndrome

text: 18 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Tourette syndrome

text: ND23895 male affected Tourette syndrome sample


text: Coriell

text: live

text: Generic

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Daughter

text: VENEZUELAN

characteristic: ethnicity

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/venezuelan pedigree 102

text: GM13191 female unaffected Ceph/venezuelan pedigree 102 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 42 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND23896 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Daughter

text: VENEZUELAN

text: daughter

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Ceph/venezuelan pedigree 102

text: GM13192 female unaffected Ceph/venezuelan pedigree 102 sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Tourette syndrome

text: 10 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Tourette syndrome

characteristic: tag

text: ND23897 male affected Tourette syndrome sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Tourette syndrome

text: 47 YR

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND23899 male affected Tourette syndrome sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Daughter

characteristic: description

text: VENEZUELAN

text: daughter

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Ceph/venezuelan pedigree 102

text: GM13193 female unaffected Ceph/venezuelan pedigree 102 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 16 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Tourette syndrome

text: ND23900 female affected Tourette syndrome sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Tourette syndrome

text: 15 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND23901 male affected Tourette syndrome sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son

text: VENEZUELAN

characteristic: ethnicity

text: son

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Ceph/venezuelan pedigree 102

text: GM13194 male unaffected Ceph/venezuelan pedigree 102 sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 44 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

characteristic: tag

text: ND23902 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son

text: VENEZUELAN

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/venezuelan pedigree 102

text: GM13195 male unaffected Ceph/venezuelan pedigree 102 sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 60 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Parkinson disease

text: ND23905 female affected Parkinson disease sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 14 YR

characteristic: age

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Amish;similarly affected sib;hepatocellular and canalicular cholestasis;giant cell change;portal and sinusoidal fibrosis;mild chronic cholecystitis;parents are GM13147 and 13148 Lymphoid;pasage 3 at CCR

characteristic: description

text: AMISH

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: GM13199 male affected Cholestasis, progressive familial intrahepatic 1 sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Parkinson disease

text: 62 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinson disease

text: ND23906 male affected Parkinson disease sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Parkinson disease

text: 42 YR

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Parkinson disease

text: ND23907 male affected Parkinson disease sample


text: Coriell

text: live

text: Generic

text: 15 FW

text: Amniotic fluid-derived cell line

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: 46;XY;t(10;12)(10pter>10q11.2::12q24.1> 12qter;12pter>12q24.1::10q11.2>10qter) mat;balanced

text: 46;XY;t(10;12)(10pter>10q11.2:: 12q24.1>12qter;12pter>12q24.1:: 10q11.2>10qter)mat

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Translocated chromosome

text: GM13200 male unaffected Translocated chromosome sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Epilepsy

text: 26 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

characteristic: tag

text: ND23938 female affected Epilepsy sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 70 YR

text: B-Lymphocyte

text: NINDS Repository

text: unaffected spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Control

text: Population/convenience control

text: ND23939 female unaffected Control sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Aspartylglucosaminuria

text: 14 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Consanguineous parents;mildly coarse facial features;general clumsiness;frequent nosebleeds;delayed cognitive skills;enlarged spleen;urinary oligosaccharidosis;deficient fibroblast Naspartyl-beta-glucosaminidase activity

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Aspartylglucosaminuria

text: GM13201 male affected Aspartylglucosaminuria sample


text: Coriell

text: live

text: Generic

text: Ischemic stroke

text: 77 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Transient ischemic attack

text: Ischemic stroke

text: ND23940 male affected Ischemic stroke sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Epilepsy

text: 17 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Other

text: Male

text: Epilepsy

text: ND23944 male affected Epilepsy sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Mucopolysaccharidosis type ii

text: 3 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Haitian;coarse features;umbilical hernia;enlarged liver;flat acetabulum;developmental delay especially speech;deficient plasma iduronate sulfatase activity;donor subject is hemizygous for a 1 bp insertion at nucleotide 208 in exon 2 of the IDS gene (208insC) resulting in a frameshift and premature stop codon (H70PfsX29)

characteristic: description

text: HAITIAN

characteristic: ethnicity

text: IDS

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Mucopolysaccharidosis type ii

text: GM13203 male affected Mucopolysaccharidosis type ii sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Epilepsy

text: 16 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: sibling

text: Homo sapiens

text: Other

text: Male

characteristic: sex

text: Epilepsy

characteristic: tag

text: ND23945 male affected Epilepsy sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: Mucopolysaccharidosis type vii

text: 1 MO

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Hispanic;neonatal hepatosplenomegaly;prolonged jaundice;white blood cells & serum show beta-glucuronidase deficiency;46;XX in PBL

text: MEXICAN

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Mucopolysaccharidosis type vii

text: GM13239 female affected Mucopolysaccharidosis type vii sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 69 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: family id

text: mother

text: Homo sapiens

text: Other

text: Female

text: ND23950 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: Lipoid proteinosis of urbach and wiethe

text: 65 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Diagnosed at age 32;similarly affected brother;larynx;eyelids;tongue;& skin of elbows & axillae show involvement;has had tracheostomy to relieve respiratory distress;persistent hoarseness

characteristic: description

text: GERMAN

characteristic: ethnicity

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Lipoid proteinosis of urbach and wiethe

text: GM13241 male affected Lipoid proteinosis of urbach and wiethe sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Progressive supranuclear palsy

text: 67 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Progressive supranuclear palsy

text: ND23977 female affected Progressive supranuclear palsy sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: Vas deferens

text: 29 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Unilateral renal agenesis;bilateral absence of the vas deferens;fructose (-) azoospermia;the donor subject tested negative for the following 16 mutations in the ABCC7 (CFTR) gene: deltaF508;G542X;W1282X;G551D;N1303K;R117H;1717-1G>A;3849+10C>T;deltaI507;R347P;R553X;R560T;S549N;621+1G>T;M1101K;3905insT.

text: IRISH

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Congenital bilateral aplasia of cbavd

characteristic: tag

text: Vas deferens

text: GM13242 male affected Vas deferens sample


text: Coriell

text: live

text: Generic

text: 70 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Population/convenience control

text: ND23978 male unaffected Population/convenience control sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Glycogen storage disease i

text: 3 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Type 1a;lactic acidosis;hyperlipidemia;hypoglycemia;hepatomegaly;liver biopsy showed <10% of control glucose6-phosphatase activity

text: Homo sapiens

text: Caucasian

text: Female

text: Glycogen storage disease i

text: GM13243 female affected Glycogen storage disease i sample


text: Coriell

text: live

text: Generic

text: 58 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: spouse

text: Homo sapiens

text: African American

text: Female

text: Population/convenience control

text: ND23979 female unaffected Population/convenience control sample


text: Coriell

text: live

text: Generic

text: Glycogen storage disease i

text: 5 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Type 1a;hispanic;lactic acidemia;hyperlipidemia;hypoglycemia;hepatomegaly;liver biopsy showed no detectable glucose-6-phosphatase activity

characteristic: description

text: HISPANIC

characteristic: ethnicity

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Glycogen storage disease i

text: GM13247 male affected Glycogen storage disease i sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 31 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND23980 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: Von hippel-lindau syndrome

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Cerebellar hemangioblastoma;2 affected children;single nucleoside deletion in VHL gene - deletion 661

text: Homo sapiens

text: Caucasian

text: Male

text: VHL

text: Von hippel-lindau syndrome

text: GM13248 male affected Von hippel-lindau syndrome sample


text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 14 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Tourette syndrome

characteristic: tag

text: ND23981 male affected Tourette syndrome sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Von hippel-lindau syndrome

text: 52 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Hemangioblastoma;pancreatic cysts;renal cell carcinoma;1 affected daughter;parents have normal VHL genes;proband & affected daughter have new gp7 cDNA EcoRI fragment

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: VHL

text: Von hippel-lindau syndrome

text: GM13250 female affected Von hippel-lindau syndrome sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 47 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Greek background

characteristic: ethnicity

characteristic: family id

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND23983 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Von hippel-lindau syndrome

text: 40 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: SSCP analysis of genomic DNA from this patient showed a 8-nt insertion mutation at nt 714 of the VHL gene

characteristic: description

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: VHL

text: Von hippel-lindau syndrome

text: GM13252 male affected Von hippel-lindau syndrome sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 44 YR

text: B-Lymphocyte

text: NINDS Repository

text: Greek background

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND23984 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: Von hippel-lindau syndrome

text: 39 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Hemangioblastoma of spinal cord;similarly affected father & sister;no VHL gene mutation yet identified using SSCP

text: Homo sapiens

text: Black

text: Male

text: VHL

text: Von hippel-lindau syndrome

text: GM13254 male affected Von hippel-lindau syndrome sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Tourette syndrome

text: 12 YR

text: B-Lymphocyte

text: NINDS Repository

text: Greek background

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Tourette syndrome

characteristic: tag

text: ND23985 male affected Tourette syndrome sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Von hippel-lindau syndrome

text: 70 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Pancreatic cysts;daughter died from cerebellar hemangioblastoma;mother & 3 sibs are also affected;PFGE showed 380Kb deletion in VHL gene region

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: VHL

text: Von hippel-lindau syndrome

text: GM13255 male affected Von hippel-lindau syndrome sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 45 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: family id

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND23986 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Von hippel-lindau syndrome

text: 60 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Renal cell carcinoma;cerebellar hemangioblastoma;PFGE showed a 200Kb deletion in VHL gene region

characteristic: description

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: VHL

text: Von hippel-lindau syndrome

text: GM13256 male affected Von hippel-lindau syndrome sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 47 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND23987 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: Von hippel-lindau syndrome

text: 53 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Pheochromocytoma;many affected individuals in pedigree;none developed renal cell carcinomas;no VHL gene mutation yet identified using SSCP

text: Homo sapiens

text: Caucasian

text: Male

text: VHL

text: Von hippel-lindau syndrome

text: GM13257 male affected Von hippel-lindau syndrome sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Tourette syndrome

text: 6 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Tourette syndrome

characteristic: tag

text: ND23988 male affected Tourette syndrome sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 2 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Hypotonia;seizures;slight dysmorphic features;failure to thrive;deficient peroxisomal B-oxidation at the bifunctional step;elevated plasma VLCFA & impaired VLCFA oxidation in fibros;slight abnorm phytanic acid oxidation in fibros

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: GM13262 female affected Peroxisomal bifunctional enzyme deficiency sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 45 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND23998 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 17-beta-hydroxysteroid dehydrogenase iv

text: 1 MO

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Hypotonia;seizures;macrocephalic;expired at age 5 months;deficient peroxisomal B-oxidation in fibroblasts;slightly abnormal phytanic acid oxidation in fibroblasts;elevated levels of trihydroxycholestanoic acid (THCA) in plasma;donor subject is homozygous for a deletion of 2 bp at position 422_423 of the HSD17B4 (D-BP) gene cDNA causing a frameshift leading to a premature stop codon at position 490;which results in a shortened product of 163 amino acids;the inactive protein lacks the catalytic aa tyrosine and lysine in the NYSAAK-motif characteristics of the short-chain-alcohol dehydrogenase gene family

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Black

text: Male

text: Peroxisomal bifunctional enzyme deficiency

text: 17-beta-hydroxysteroid dehydrogenase iv

text: GM13263 male affected 17-beta-hydroxysteroid dehydrogenase iv sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Tourette syndrome

text: 36 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: father

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Tourette syndrome

text: ND23999 male affected Tourette syndrome sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 17-beta-hydroxysteroid dehydrogenase iv

text: 1 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Hypotonia;seizures;failure to thrive;deficient peroxisomal B-oxidation at the bifunctional step;elevated VLCFA & impaired VLCFA oxidation in fibroblasts;slightly abnormal phytanic acid oxidation in fibroblasts;elevated levels of THCA (trihydroxycholestanoic acid) in plasma;donor subject is homozygous for a deletion of 2 bp at position 422_423 of the HSD17B4 (D-BP) gene cDNA causing a frameshift leading to a premature stop codon at position 490. The inactive protein lacks the catalytic amino acids tyrosine and lysine in the NYSAAK-motif characteristics of the short-chain-alcohol dehydrogenase gene family

characteristic: description

text: Homo sapiens

text: Caucasian

text: Female

text: 17-beta-hydroxysteroid dehydrogenase iv

text: GM13264 female affected 17-beta-hydroxysteroid dehydrogenase iv sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 51 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Jewish

characteristic: ethnicity

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND24000 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 3 DA

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Hypotonia;seizures;mild dysmorphic features;expired at age 11.5 mo;deficient peroxisomal B-oxidation at the bifunctional step;elevated VLCFA & impaired VLCFA in fibros;partially deficient phytanic acid oxidation in fibros

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

characteristic: sex

characteristic: tag

text: GM13265 male affected Peroxisomal bifunctional enzyme deficiency sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 48 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Jewish

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND24001 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Zellweger syndrome

text: 1 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Group 2;typical signs including dysmorphic features;hypotonia;and stippled epiphyses;neuronal migration defect;fibroblasts show impaired capacity to degrade VLCFA and phytanic acid;defective plasmalogen synthesis;and abnormal catalase distribribution

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Zellweger syndrome

text: ZS

text: GM13266 male affected Zellweger syndrome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Tourette syndrome

text: 24 YR

text: B-Lymphocyte

text: NINDS Repository

text: Jewish

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND24002 male affected Tourette syndrome sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Zellweger syndrome

text: 2 MO

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Group 4;severe hypotonia;seizures;fibroblasts show impaired capacity to degrade VLCFA & phytanic acid;defective plasmalogen synthesis;& abnormal catalase distribution

characteristic: description

text: Homo sapiens

text: Caucasian

text: Male

text: Zellweger syndrome

text: ZS

text: GM13267 male affected Zellweger syndrome sample


text: Coriell

text: live

text: Generic

text: 42 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: parent

text: Homo sapiens

text: Asian

text: Female

text: ND24003 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 4 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Group 2;fibroblasts show impaired capacity to degrade VLCFA & phytanic acid;defective plasmalogen synthesis;& abnormal catalase distribution;optic nerve dysplasia;nystagmus;extreme hypotonia;virtually continuous seizures before death at 4 months of age

text: Homo sapiens

text: Caucasian

text: Male

text: GM13268 male affected Adrenoleukodystrophy autosomal neonatal form sample


text: Coriell

text: live

text: Generic

text: 40 YR

text: B-Lymphocyte

text: NINDS Repository

text: Ashkenazi Jewish or Eastern European Jewish

characteristic: ethnicity

text: parent

text: Homo sapiens

characteristic: organism

text: More than one race

text: Male

characteristic: sex

text: ND24004 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Zellweger syndrome

text: 1 MO

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Group 3;hepatomegaly;convulsions;fibroblasts show impaired capacity to degrade VLCFA & phytanic acid;defective plasmalogen synthesis;& abnormal catalase distribution

text: Homo sapiens

text: Caucasian

text: Male

text: Zellweger syndrome

characteristic: tag

text: ZS

text: GM13269 male affected Zellweger syndrome sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Epilepsy

text: 8 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Epilepsy

text: ND24005 male affected Epilepsy sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Zellweger syndrome

text: 1 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Group 4;hypotonia;dysmorphic features;hepatomegaly;renal cysts;stippled epiphyses;neuronal migration defect;fibroblasts show defective plasmalogen synthesis;2 sibs were also affected

text: Homo sapiens

text: Caucasian

text: Female

text: Zellweger syndrome

text: ZS

text: GM13272 female affected Zellweger syndrome sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Epilepsy

text: 43 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Caucasian

characteristic: family id

text: proband

text: Homo sapiens

text: Other

text: Male

text: Epilepsy

text: ND24037 male affected Epilepsy sample


text: Coriell

text: live

text: Generic

text: Zellweger syndrome

text: 1 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Group 4;hypotonia;dysmorphic features;hepatomegaly;stippled epiphyses;renal cysts;neuronal migration defect;fibroblasts show abnormal VLCFA amount;phytanic acid oxidation;catalase distribution;& plasmalogen synthesis

characteristic: description

text: Homo sapiens

text: Caucasian

text: Female

text: Zellweger syndrome

text: ZS

text: GM13273 female affected Zellweger syndrome sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 51 YR

text: B-Lymphocyte

text: NINDS Repository

text: English;German

characteristic: ethnicity

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Control

text: Population/convenience control

text: ND24049 female unaffected Control sample


characteristic: DNA id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 8 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Homozygous for 985A>G {Lys304Glu (K304E)} mutation of ACADM (MCAD);normal growth & development;normal height to weight ratio;MCAD deficiency detected on newborn screen;patient shows mild decrease in carnitine

text: ACADM

characteristic: gene

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: sex

text: ACADM

text: Acyl-coa dehydrogenase, medium-chain

text: GM13275 female affected ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: Epilepsy

text: 58 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Other

characteristic: race

text: Female

text: Epilepsy

characteristic: tag

text: ND24051 female affected Epilepsy sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: Vas deferens

text: 28 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: The donor presented with congenital bilateral absence of the vas deferens;left cryptoorchidism with spontaneous descent;the donor subject tested negative for the following 16 mutations in the ABCC7 (CFTR) gene: deltaF508;G542X;W1282X;G551D;N1303K;R117H;1717-1G>A;3849+10C>T;deltaI507;R347P;R553X;R560T;S549N;621+1G>T;M1101K;3905insT.

text: Homo sapiens

text: Caucasian

text: Male

text: Congenital bilateral aplasia of cbavd

text: Vas deferens

text: GM13276 male affected Vas deferens sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Epilepsy

text: 19 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

text: ND24053 female affected Epilepsy sample


characteristic: DNA id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 8 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Short stature;<5th %ile;birth-weight <5 lbs;XIST is present on deleted X which is consistently inactivated

characteristic: description

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Chromosome deletion

text: GM13277 female unaffected Chromosome deletion sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: 55 YR

text: B-Lymphocyte

text: NINDS Repository

text: parent

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: sex

text: ND24054 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: LIPASE

text: 3 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Chronic diarrhea;failure to thrive;poor appetite;height & weight < 25th %ile;secretin stimulated pancreatic function test showed deficiency of lipase & amylase activity

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Congenital absence of pancreatic

characteristic: tag

text: LIPASE

text: GM13278 female affected LIPASE sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: 61 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: parent

text: Homo sapiens

text: Caucasian

text: Male

text: ND24055 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 16 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Father;brother;& paternal relatives are also affected;pulmonary arteriovenous malformations refractory to embolization & productive of dyspnea;polycythemia;platelet dysfunction;myocardial dysfunction;expired at age 16

text: Homo sapiens

text: Caucasian

text: Male

text: HHT

text: GM13280 male affected Telangiectasia, hereditary hemorrhagic of rendu, osler and weber sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Epilepsy

text: 26 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy

text: ND24063 male affected Epilepsy sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 5q- myelodysplasia

text: 44 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Venezuelan;pancytopenia and myelodysplasia: 46;XX in lymphoblast culture;46;XX;del(5)(q21>qter) in bone marrow cells

characteristic: description

text: VENEZUELAN

characteristic: ethnicity

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: 5q- myelodysplasia

text: GM13281 female affected 5q- myelodysplasia sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 57 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: parent

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: sex

text: ND24064 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 2 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Intravesicle obstruction with megaloureter;giant cell hepatitis;unspecified dysmorphic signs

text: 46;XY;inv(9)(pter>p11::q13>p11::q13>qter);der(22)(16pter>16p13.3::22q13.1>22pter).ish der(22)(102D1+;COS82-;D16S3400+)

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Translocated chromosome

characteristic: tag

text: GM13284 male unaffected Translocated chromosome sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: Epilepsy

text: 28 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy

text: ND24065 male affected Epilepsy sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: Trichothiodystrophy

text: 3 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Collodion membranes at birth;congenital ichthyosis;trichothiodystrophy;severe growth def;motor & cognitive develop delay;neutropenia;mild immunodef;freq infections;cranial synostosis;sparse;brittle hair;see GM13287 Fibroblast

characteristic: description

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Trichothiodystrophy

text: Ttd ichthyosiform erythroderma with hair abnormality and mental and growth retardation included

text: GM13286 male affected Trichothiodystrophy sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 50 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: parent

text: Homo sapiens

characteristic: organism

text: Asian

text: Female

text: ND24069 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Trichothiodystrophy

text: 3 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Collodion membranes at birth;congenital ichthyosis;trichothiodystrophy;severe growth defect;motor and cognitive developmental delay;neutropenia;mild immunodeficiency;frequent infections;cranial synostosis;sparse;brittle hair;see GM13286A Lymphoid

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Trichothiodystrophy

text: GM13287 male affected Trichothiodystrophy sample


text: Coriell

text: live

text: Generic

text: Epilepsy

text: 22 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Epilepsy

characteristic: tag

text: ND24070 male affected Epilepsy sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Glycogen storage disease i

text: 17 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Type 1a;hispanic;lactic acidemia;hyperlipidemia;hepatosplenomegaly;liver biopsy showed <4% of control glucose-6phosphatase activity;similarly affected brother

text: HISPANIC

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Glycogen storage disease i

text: GM13289 female affected Glycogen storage disease i sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: 40 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: parent

text: Homo sapiens

text: More than one race

text: Female

text: ND24071 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: Glycogen storage disease i

text: 12 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Type 1a;hispanic;lactic acidemia;hyperlipidemia;hepatomegaly;liver biopsy showed deficient glucose-6-phosphatase activity

text: HISPANIC

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Glycogen storage disease i

text: GM13290 male affected Glycogen storage disease i sample


text: Coriell

text: live

text: Generic

text: Glycogen storage disease ii

text: 25 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;muscle weakness of limbs;absent acid-alpha-1;4 glucosidase activity;donor subject is a compound heterozygote: one allele has a 1 bp deletion at nucleotide 525 in exon 2 of the GAA gene (c.525delT) resulting in a frameshift and premature termination of the protein Glu176fsX45);a second allele has a G>A transition at nucleotide 1195-8 (c.1195-8G>A) causing aberrant splicing

characteristic: description

text: GAA

characteristic: gene

characteristic: mutation

text: 1-BP DEL

text: Homo sapiens

text: Black

text: Male

text: Glycogen storage disease ii

text: GM13291 male affected Glycogen storage disease ii sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

text: 39 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: family id

text: parent

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: ND24072 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 34 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: XPH208BE;clinically unaffected;1 affected daughter

text: mother

text: Homo sapiens

text: Black

characteristic: race

text: Female

characteristic: sex

characteristic: tag

text: XPA

text: GM13293 female unaffected Xeroderma pigmentosum, complementation group a sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: 39 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: XPH209BE;clinically unaffected;1 affected daughter

text: father

text: Homo sapiens

text: Black

text: Male

text: XPA

text: GM13294 male unaffected Xeroderma pigmentosum, complementation group a sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: 50 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: parent

text: Homo sapiens

text: More than one race

text: Male

text: ND24075 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 model

text: 9 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: XP40BE;marked sun sensitivity;freckling;mental retardation;hearing loss;microcephaly;areflexia;very severe neurological abnormalities for a young XP patient in US

characteristic: description

text: proband

text: Homo sapiens

text: Black

text: Female

text: XPA

text: GM13295 female affected Xeroderma pigmentosum, complementation group a sample


text: Coriell

text: live

text: Generic

text: 46 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: XPH207BE;Hungarian;clinically unaffected;1 affected daughter (GM11637);donor subject has an A>G transition at -2 in intron 5.1 of the XPC gene (IVS5.1-2A>G) resulting in an 83 bp insertion of intron 5.1 with a stop 34 codons downstream and the deletion of exon 5.2 with a stop 7 codons downstream

text: HUNGARIAN

characteristic: ethnicity

characteristic: family id

text: mother

text: XPC

characteristic: gene

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: XPC

text: GM13296 female unaffected Xeroderma pigmentosum, complementation group c sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Epilepsy

text: 42 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Epilepsy

characteristic: tag

text: ND24101 female affected Epilepsy sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: 6 MO

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Congenital absence of peroxisomes;retardation in growth and motor development;hepatomegaly;kidney stone;nystagmus;loss of skills;hyperrefexia;bilateral hearing loss;VLCFA positive;expired at age 4

text: Homo sapiens

text: Caucasian

text: Male

text: GM13298 male affected Adrenoleukodystrophy autosomal neonatal form sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

text: 33 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Indian or Pakistani;or South Asian

text: parent

text: Homo sapiens

text: More than one race

text: Male

text: ND24102 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 1 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Amish;cholestasis;pigmented stools;low gamma-GT levels;rickets

characteristic: description

text: AMISH

characteristic: ethnicity

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: GM13301 female affected Cholestasis, progressive familial intrahepatic 1 sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 33 YR

text: B-Lymphocyte

text: NINDS Repository

text: Indian or Pakistani;or South Asian

text: parent

text: Homo sapiens

characteristic: organism

text: More than one race

characteristic: race

text: Female

text: ND24103 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: Glycogen storage disease ii

text: 27 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;deficient acid-alpha-1;4-glucosidase activity (1%);donor subject is a compound heterozygote: one allele has a T>G transversion at position -13 of the acceptor site of intron 1 of the GAA gene (c.-32-13T>G) resulting in alternatively spliced transcripts with deletion of the first coding exon;exon 2;the second allele has a G>A transition at nucleotide 1548 in exon 10 (c.1548G>A) resulting in a stop at codon 516 Trp516Ter (W516X)

text: proband

text: GAA

characteristic: gene

characteristic: mutation

text: T>G

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Glycogen storage disease ii

characteristic: tag

text: GM13304 female affected Glycogen storage disease ii sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Epilepsy

text: 3 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Asian

text: Male

text: Epilepsy

text: ND24104 male affected Epilepsy sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 48 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically unaffected mother of an affected child (GM13304)

characteristic: description

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Glycogen storage disease ii

text: GM13305 female unaffected Glycogen storage disease ii sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Epilepsy

text: 3 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Epilepsy

text: ND24105 female affected Epilepsy sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: 50 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected father of an affected child (GM13304);donor subject is heterozygous for a G>A transition at nucleotide 1548 in exon 10 of the GAA gene (c.1548G>A) resulting in a stop at codon 516 Trp516Ter (W516X)

text: father

text: GAA

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Glycogen storage disease ii

text: GM13306 male unaffected Glycogen storage disease ii sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

text: 29 YR

text: B-Lymphocyte

text: NINDS Repository

text: parent

text: Homo sapiens

text: Asian

text: Male

characteristic: sex

characteristic: tag

text: ND24106 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Holt-oram syndrome

text: 56 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Digitized thumbs;atrial septal defect;fossa ovalis type with history of conduction defect & insertion of a nuclear pacemaker at age 40;mother & 2 children are also affected

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Holt-oram syndrome

text: HOS

text: GM13307 female affected Holt-oram syndrome sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 30 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

characteristic: family id

text: parent

text: Homo sapiens

text: Caucasian

text: Female

text: ND24107 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Ellis-van creveld syndrome

text: 13 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Amish

characteristic: description

text: AMISH

characteristic: ethnicity

text: cousin

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: EVC

text: Ellis-van creveld syndrome

text: GM13309 female affected Ellis-van creveld syndrome sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: Parkinson disease

text: 73 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Parkinson disease

text: ND24121 female affected Parkinson disease sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

text: Ellis-van creveld syndrome

text: 19 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Amish

text: AMISH

text: cousin

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: EVC

text: Ellis-van creveld syndrome

text: GM13310 female affected Ellis-van creveld syndrome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 74 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

characteristic: tag

text: ND24122 male unaffected Population/convenience control sample


text: Coriell

text: live

text: Generic

text: Ellis-van creveld syndrome

text: 22 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Amish

text: AMISH

text: cousin

text: Homo sapiens

text: Caucasian

text: Female

text: EVC

text: Ellis-van creveld syndrome

text: GM13311 female affected Ellis-van creveld syndrome sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 30 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND24128 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Ellis-van creveld syndrome

text: 26 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Amish

characteristic: description

text: AMISH

characteristic: ethnicity

text: cousin

text: Homo sapiens

text: Caucasian

text: Male

text: EVC

text: Ellis-van creveld syndrome

text: GM13312 male affected Ellis-van creveld syndrome sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: 30 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND24129 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

text: Ellis-van creveld syndrome

text: 30 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Amish

text: AMISH

text: cousin

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: EVC

text: Ellis-van creveld syndrome

text: GM13313 female affected Ellis-van creveld syndrome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Tourette syndrome

text: 7 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Tourette syndrome

text: ND24130 male affected Tourette syndrome sample


text: Coriell

text: live

text: Generic

text: Ellis-van creveld syndrome

text: 15 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Amish

text: AMISH

text: cousin

text: Homo sapiens

text: Caucasian

text: Female

text: EVC

characteristic: tag

text: Ellis-van creveld syndrome

text: GM13314 female affected Ellis-van creveld syndrome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 41 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: unaffected spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Control

text: Population/convenience control

text: ND24131 female unaffected Control sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Ellis-van creveld syndrome

text: 38 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Amish

characteristic: description

text: AMISH

characteristic: family id

text: cousin

text: Homo sapiens

text: Caucasian

text: Female

text: EVC

text: Ellis-van creveld syndrome

text: GM13315 female affected Ellis-van creveld syndrome sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: Parkinson disease

text: 65 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: ND24132 male affected Parkinson disease sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Translocated chromosome

text: 15 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Bilateral tibial hypoplasia;hypospadius;exotropia;chronic sinusitis;seizure disorder;developmental delay;asthma;ectrodactyly of lower extremities

text: 46;XY;t(1;14)(1pter->1q42::14q13->14qter;14pter->14q13::1q42->1qter).arr ?17q12(31464078-31653797)x3;46;XY;t(1;14)(1pter>1q42::14q13>14qter;14pter>14q13::1q42>1qter)

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Black

text: Male

text: Translocated chromosome

text: GM13321 male affected Translocated chromosome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 61 YR

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Other

characteristic: race

text: Female

text: Control

text: Population/convenience control

text: ND24133 female unaffected Control sample


text: Coriell

text: live

text: Generic

text: LIPASE

text: 2 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Failure to thrive;developmental delay;chronic encephalopathy;microcephaly;esophageal reflux;poor appetite;iron deficiency anemia;pancreatic enzyme studies showed deficiency of lipase activity

text: HISPANIC

characteristic: ethnicity

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Congenital absence of pancreatic

text: LIPASE

text: GM13322 male affected LIPASE sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Epilepsy

text: 45 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy

characteristic: tag

text: ND24152 male affected Epilepsy sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 9 DA

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;del(22)(q11) confirmed by FISH analysis with a cosmid probe to the DiGeorge syndrome critical region

characteristic: description

text: 46;XX.ish del(22)(q11.2q11.2)(D22S75-)

text: Homo sapiens

text: Caucasian

text: Female

text: DGS

text: Digeorge syndrome

text: GM13325 female unaffected Digeorge syndrome sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: Epilepsy

text: 26 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Other

text: Male

text: Epilepsy

text: ND24154 male affected Epilepsy sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: AT

text: 17 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: AT16LA;onset of ataxia at age 14-18 months;diagnosed at age 2.5;telangiectasias severe over bulbar conjunctiva;ocular apraxia;46;XX;inv(14)(q12;q32) with telomeric fusions in PBL;affected sibling;culture shows increased radiosensitivity;donor subject is a compound heterozygote: allele one is 1179delGG in exon 11 (old nomenclature nucleotide 1178) resulting in a frameshift and truncationW393fsX;allele 2 is a 9 bp deletion 7636del9 resulting in a 3 amino acid deletion S2547del3

text: ATM

characteristic: gene

text: 46;XX/46;XX;t(7;21)(p11;q22)/ 46;XX;tas(14;14)(p13;q32);32%/66%/2%;46;XX/46;XX;t(7;21)(p11;q22)/ 46;XX;tf(14;14);32%/66%/2%

characteristic: karyotype

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: AT

text: Ataxia-telangiectasia

text: Ataxia-telangiectasia mutated gene

text: Translocated chromosome

text: ATM

text: GM13326 female affected AT sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Epilepsy

text: 29 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Epilepsy

text: ND24157 female affected Epilepsy sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: Ataxia-telangiectasia

text: 23 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: AT4LA;onset of ataxia at age 4;diagnosed at age 10;telangiectasias of eyes only;sinopulmonary infections;2 affected sibs;elevated serum AFP;culture shows increased radiosensitivity;complementation group C;previous mutations listed for GM11261 and GM13327 have not been confirmed (personal communication)

characteristic: description

text: sister

text: Homo sapiens

text: Black

text: Female

text: AT

characteristic: tag

text: Ataxia-telangiectasia

text: GM13327 female affected Ataxia-telangiectasia sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 53 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: daughter

text: Homo sapiens

text: African American

text: Female

text: ND24159 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: AT

text: 32 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: AT13LA;onset of ataxia at age 6;required wheelchair at age 15;minimal bulbar telangiectasia at age 29;elevated serum AFP;culture shows increased radiosensitivity using a clonogenic survival assay;complementation group C;donor subject is a compound heterozygote;in the first allele there is substitution in intron 40 (IVS40+1126A>G) resulting in an insertion in the cDNA of 137 bp at nucleotide 5763 leading to a frameshift and truncation beginning at amino acid 1921 Arg1921ter (R1921X);in the second allele there is a deletion of 159 bp in the cDNA at nucleotide 7630 (7630del159) resulting in a 53 aa deletion at amino acid 2544 (L2544del53) due to skipping of exon 54

text: ATM

characteristic: gene

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: AT

text: Ataxia-telangiectasia

text: Ataxia-telangiectasia mutated gene

text: ATM

text: GM13328 male affected AT sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Transient ischemic attack

text: 60 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: Transient ischemic attack

text: ND24160 female affected Transient ischemic attack sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: 2 DA

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Absent thumbs;heart anomalies;and other malformations;culture established from a muscle biopsy;passage 4 at CCR

text: 46;XY;der(4)(4pter> 4q35::1q25>1qter)mat

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Translocated chromosome

text: GM13330 male unaffected Translocated chromosome sample


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 69 YR

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Other

text: Male

characteristic: tag

text: ND24161 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: Glycogen storage disease ii

text: 48 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Adult onset;negative family history;muscle cramps;fasciculations;fatigue;normal strength & EMG;muscle biopsy biochemical studies showed decreased acid & neutral maltase activity

characteristic: description

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Glycogen storage disease ii

text: GM13331 male affected Glycogen storage disease ii sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Epilepsy

text: 35 MO

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: FAMILY HISTORY OF ALZHEIMERS

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Epilepsy

text: ND24174 male affected Epilepsy sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 57 YR

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Formerly GM00967B;same subject as GM00967D;biopsy taken 6 years later;see GM13336 Lymphoid;46;XY/47;XY;+8;64%/10%;26% of cells are tetraploid

text: proband

text: 92;XXYY 13 /47;XY;+8 5 /46;XY 32

text: Homo sapiens

text: Caucasian

text: Male

text: Apparently healthy non-fetal tissue

text: GM13335 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 30 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND24175 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 30 YR

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: ND24176 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 57 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: 46;XY;10% of cells show random chromosome loss;same subject as GM01310D bled 6 years later;see GM13335 Fibroblast

text: proband

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Apparently healthy non-fetal tissue

text: GM13336 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Ischemic stroke

text: 86 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: African American

text: Male

text: Ischemic stroke

characteristic: tag

text: ND24184 male affected Ischemic stroke sample

characteristic: title