text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Huntington disease

text: 23 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Code 170;clinically affected;onset at age 28 years;9 affected sibs and 2 with probable HD;affected parents are GM04479A and GM04477B;neurological exam on 3/82 showed bradykinesia;see GM04857 Fibro. Investigators ordering this cell line may;after receiving the culture;tender a request in writing for the available CAG repeat data for this individual.

characteristic: family id

text: maternal cousin

text: Homo sapiens

text: Caucasian

text: Female

text: Huntington disease

text: HD

text: GM04856 female affected Huntington disease sample


status: PUBLIC

characteristic: External Id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Subarachnoid hemorrhage

tag: attribute

text: 38 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Subarachnoid hemorrhage

characteristic: tag

text: ND08313 female affected Subarachnoid hemorrhage sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Huntington disease

text: 23 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Code 170;clinically affected;onset at age 28 years;9 affected sibs and 2 with probable HD;affected parents are GM04478 and GM04476;neurological exam 3/82 shows bradykinesia;see GM04856B Lymphoid

characteristic: description

text: maternal cousin

text: Homo sapiens

text: Caucasian

text: Female

text: Huntington disease

text: HD

text: GM04857 female affected Huntington disease sample


text: Coriell

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 58 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm unruptured: caucasian

text: Intracranial aneurysm - unruptured

text: ND08314 female affected Intracranial aneurysm - unruptured sample


characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 20 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Code 178;unaffected;last examined on 4/2/81;affected parents are GM04479A & GM04477B;10 affected sibs & 2 with probable HD;see GM04859 Fibroblast. Investigators ordering this cell line may;after receiving the culture;tender a request in writing for the available CAG repeat data for this individual.

text: maternal cousin

text: Homo sapiens

text: Caucasian

text: Male

text: Huntington disease

text: HD

text: GM04858 male unaffected Huntington disease sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Subarachnoid hemorrhage

text: 49 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Subarachnoid hemorrhage

text: ND08316 female affected Subarachnoid hemorrhage sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 20 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Code 178;unaffected;last examined on 4/2/81;affected parents are GM04478 & GM04476;10 affected sibs & 2 with probable HD;see GM04858B Lymphoid

text: maternal cousin

text: Homo sapiens

text: Caucasian

text: Male

text: Huntington disease

text: HD

text: GM04859 male unaffected Huntington disease sample


text: Coriell

text: live

text: Generic

text: Epilepsy

text: 14 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected mother is ND08322;unaffected father is ND08323.

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Epilepsy generalized: caucasian

text: Epilepsy

text: ND08321 male affected Epilepsy sample


text: Coriell

text: live

text: Generic

text: Huntington disease

text: 16 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Code 187;clinically affected;onset at age 33 yrs;diag update 7/04;affected mother is GM04886A;see GM04861 Fibroblast. Investigators ordering this cell line may;after receiving the culture;tender a request in writing for the available CAG repeat data for this individual.

text: maternal cousin

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Huntington disease

characteristic: tag

text: HD

text: GM04860 male affected Huntington disease sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 48 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Affected son is ND08321;unaffected spouse is ND08323.

characteristic: description

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND08322 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Huntington disease

text: 16 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Code 187;clinically affected;onset at age 33 yrs;diag update 7/04;affected mother is GM04887;see GM04860A Lymphoid

characteristic: family id

text: maternal cousin

text: Homo sapiens

text: Caucasian

text: Male

text: Huntington disease

text: HD

text: GM04861 male affected Huntington disease sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 50 YR

text: B-Lymphocyte

text: NINDS Repository

text: Affected son is ND08321;unaffected spouse is ND08322.

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND08323 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: 24 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically normal

text: 46;XX;t(7;21)(7pter>7q36::21q21> 21qter;21pter>21q21::7q36>7qter)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Translocated chromosome

text: GM04862 female unaffected Translocated chromosome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Epilepsy

text: 8 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected father is ND08325.

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy generalized: caucasian

text: Epilepsy

text: ND08324 male affected Epilepsy sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 2 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Ashkenazi;clinically normal;possible variant;25% normal hexosaminidase A in leukocytes;9% in fibroblasts;and none in serum or plasma;both parents have heterozygous levels of hexosaminidase A;donor subject is heterozygous for a 4-bp insertion at nucleotide 1278 in exon 11 of the HEXA gene 1278insTATC that introduces a premature termination signal in the exon resulting in deficiency of mRNA and heterozygous for a benign C>T mutation at nucleotide 739 in exon 7 (739C>T) resulting in the substitution of tryptophan for arginine at codon 247 Arg247Trp (R247W);donor subject also is heterozygous for an A>G transition at nucleotide 1226 in exon 9 of the GBA gene (1226A>G) resulting in a substitution of serine for asparagine at codon 370 Asn370Ser (N370S) codons are numbered from the first codon of the mature protein;the cDNA is numbered from the first initiating AUG

text: JEWISH

characteristic: ethnicity

text: GBA;HEXA

characteristic: gene

characteristic: mutation

text: 4-BP INS

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Tay-sachs disease

text: Hexosaminidase a

text: TSD

text: GBA

text: HEXA

text: Glucosidase acid beta

text: GM04863 male unaffected HEXA sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 50 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Affected son is ND08324.

characteristic: description

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

characteristic: tag

text: ND08325 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 43 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Code 190;unaffected;last examined on 4/4/81;spouse of GM04876A;mother is GM05558A;see GM04865 Fibroblast. Investigators ordering this cell line may;after receiving the culture;tender a request in writing for the available CAG repeat data for this individual.

characteristic: family id

text: maternal cousin

text: Homo sapiens

text: Caucasian

text: Male

text: Huntington disease

text: HD

text: GM04864 male unaffected Huntington disease sample


text: Coriell

text: live

text: Generic

text: 33 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Affected son is ND08335;unaffected spouse is ND09443.

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND08334 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 43 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Code 190;unaffected;last examined on 4/4/81;spouse of GM04877;mother is GM05559;see GM04864A Lymphoid

text: maternal cousin

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Huntington disease

text: HD

text: GM04865 male unaffected Huntington disease sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Epilepsy

text: 10 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother is ND08334;unaffected father is ND09443.

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy generalized: caucasian

text: Epilepsy

text: ND08335 male affected Epilepsy sample


text: Coriell

text: live

text: Generic

text: Huntington disease

text: 49 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Code 47;clinically affected;onset at age 31 yrs;neuro exam 3/81 shows rigidity & a narrow-based gait with pauses;see GM04867 Fibroblast. Investigators ordering this cell line may;after receiving the culture;tender a request in writing for the available CAG repeat data for this individual.

characteristic: description

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Huntington disease

text: HD

text: GM04866 male affected Huntington disease sample


text: Coriell

text: live

text: Generic

text: Epilepsy

text: 20 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Epilepsy

characteristic: tag

text: ND08344 female affected Epilepsy sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Huntington disease

text: 49 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Code 47;clinically affected;onset at age 31 yrs;neuro exam 3/81 shows rigidity & a narrow-based gait with pauses;see GM04866B Lymphoid

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Huntington disease

text: HD

text: GM04867 male affected Huntington disease sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 30 YR

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Control

text: Population/convenience control

text: ND08345 male unaffected Control sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Huntington disease

text: 32 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Code 558;clinically affected;onset at age 31 years;both parents affected;affected sib is GM05688A;1st cousin to proband;see GM04869 Fibroblast. Investigators ordering this cell line may;after receiving the culture;tender a request in writing for the available CAG repeat data for this individual.

text: paternal cousin

text: Homo sapiens

text: Caucasian

text: Female

text: Huntington disease

text: HD

text: GM04868 female affected Huntington disease sample


text: Coriell

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 72 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Amyotrophic lateral sclerosis 1

text: ND08348 female affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

text: live

text: Generic

text: Huntington disease

text: 32 YR

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Code 558;clinically affected;onset at age 31 years;both parents affected;affected sib is GM05689Z;1st cousin to proband;see GM04868A Lymphoid

text: paternal cousin

text: Homo sapiens

text: Caucasian

text: Female

text: Huntington disease

text: HD

text: GM04869 female affected Huntington disease sample


text: Coriell

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 50 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Intracranial aneurysm - unruptured

text: ND08349 female affected Intracranial aneurysm - unruptured sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Huntington disease

text: 40 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Code 189;clinically affected;onset at age 41 yrs;affected sibs are GM04886A & GM04479A;see GM04877 Fibroblast. Investigators ordering this cell line may;after receiving the culture;tender a request in writing for the available CAG repeat data for this individual.

text: maternal cousin

text: Homo sapiens

text: Caucasian

text: Female

text: Huntington disease

text: HD

text: GM04876 female affected Huntington disease sample


text: Coriell

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 48 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND08359 female affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

text: Generic

text: Huntington disease

text: 40 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Code 189;clinically affected;onset at age 41 yrs;affected sibs are GM04887 & GM04478;see GM04876A Lymphoid

characteristic: description

text: maternal cousin

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Huntington disease

text: HD

text: GM04877 female affected Huntington disease sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Epilepsy

text: 30 YR

text: B-Lymphocyte

text: NINDS Repository

text: Affected mother is ND08370;unaffected father is ND08371.

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy

characteristic: tag

text: ND08369 male affected Epilepsy sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Huntington disease

text: 48 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Code 184;clinically affected;onset at age 42 years;affected sibs are GM04479A and GM04876A;see GM04887 Fibroblast. Investigators ordering this cell line may;after receiving the culture;tender a request in writing for the available CAG repeat data for this individual.

text: maternal cousin

text: Homo sapiens

text: Caucasian

text: Female

text: Huntington disease

text: HD

text: GM04886 female affected Huntington disease sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Epilepsy

text: 55 YR

text: B-Lymphocyte

text: NINDS Repository

text: Affected son is ND08369;unaffected spouse is ND08371.

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

text: ND08370 female affected Epilepsy sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Huntington disease

text: 48 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Code 184;clinically affected;onset at age 42 years;affected sibs are GM04877 and GM04478;see GM04886A Lymphoid

text: maternal cousin

text: Homo sapiens

text: Caucasian

text: Female

text: Huntington disease

text: HD

text: GM04887 female affected Huntington disease sample


text: Coriell

text: live

text: Generic

text: 53 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Affected son is ND08369;affected spouse is ND08370.

characteristic: family id

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND08371 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 32 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;has had 5 miscarriages

text: 45;XX;dic(13;14)(13qter>13p11::14p11> 14qter)

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Translocated chromosome

text: GM04890 female unaffected Translocated chromosome sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 55 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Intracranial aneurysm - unruptured

text: ND08383 female affected Intracranial aneurysm - unruptured sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: Huntington disease

text: 60 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Choreic movements and dementia;first cousin once removed to proband;see GM05031B Fibroblast

characteristic: description

text: cousin

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Huntington disease

text: HD

text: GM04894 male affected Huntington disease sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 59 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND08384 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 41 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;donor subject is heterozygous for the 2507+6T>C mutation in the IKBKAP gene;this donor splice site mutation (IVS20+6T>C) leads to deletion of exon 20 from the mRNA;affected child is GM04899;same donor as GM04896 lymphocyte.

text: mother

text: IKBKAP

characteristic: gene

characteristic: mutation

text: T>C

text: Homo sapiens

text: Caucasian

text: Female

text: Inhibitor of kappa light polypeptide gene enhancer in b cells

text: Kinase-complex associated protein

text: IKBKAP

text: GM04895 female unaffected Neuropathy, hereditary sensory and autonomic type iii sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Epilepsy

text: 12 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: MATERNAL AUNT;MATERNAL UNCLE;MIGRAINE

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Epilepsy generalized: caucasian

text: Epilepsy

text: ND08386 male affected Epilepsy sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 41 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically unaffected;donor subject is heterozygous for the 2507+6T>C mutation in the IKBKAP gene;this donor splice site mutation (IVS20+6T>C) leads to deletion of exon 20 from the mRNA;affected child is GM04900;same donor as GM04895 fibroblast.

characteristic: description

text: mother

text: IKBKAP

text: T>C

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Kinase-complex associated protein

text: IKBKAP

text: GM04896 female unaffected Neuropathy, hereditary sensory and autonomic type iii sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 56 YR

text: B-Lymphocyte

text: NINDS Repository

text: Affected son is ND08386.

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

characteristic: tag

text: ND08387 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: 43 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;donor subject is heterozygous for the 2507+6T>C mutation in the IKBKAP gene;this donor splice site mutation (IVS20+6T>C) leads to deletion of exon 20 from the mRNA;affected child is GM04899;same donor as GM04898 lymphocyte.

text: father

text: IKBKAP

text: T>C

text: Homo sapiens

text: Caucasian

text: Male

text: Kinase-complex associated protein

text: IKBKAP

text: GM04897 male unaffected Neuropathy, hereditary sensory and autonomic type iii sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 26 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: CANADIAN

characteristic: ethnicity

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: ND08441 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 43 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;donor subject is heterozygous for the 2507+6T>C mutation in the IKBKAP gene;this donor splice site mutation (IVS20+6T>C) leads to deletion of exon 20 from the mRNA;affected child is GM04900;same donor as GM04897 fibroblast.

characteristic: family id

text: father

text: IKBKAP

characteristic: gene

characteristic: mutation

text: T>C

text: Homo sapiens

text: Caucasian

text: Male

text: Kinase-complex associated protein

text: IKBKAP

text: GM04898 male unaffected Neuropathy, hereditary sensory and autonomic type iii sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 71 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: sister

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Subarachnoid hemorrhage

text: ND08445 female affected Subarachnoid hemorrhage sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 12 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;emotional lability;episodes of emesis;vibration and proprioceptive abnormalities;decreased pain sensation;orthostatic hypotension;decreased lacrimation;donor subject is homozygous for the 2507+6T>C mutation in the IKBKAP gene;this donor splice site mutation (IVS20+6T>C) leads to deletion of exon 20 from the mRNA;mother is GM04895;father is GM04897;same donor as GM04900 lymphocyte.

characteristic: description

text: proband

text: IKBKAP

text: T>C

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

characteristic: tag

text: Kinase-complex associated protein

text: IKBKAP

text: GM04899 female affected Neuropathy, hereditary sensory and autonomic type iii sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Amyotrophic lateral sclerosis 1

text: 79 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND08467;unaffected sister-in-law is ND08468.

text: IRISH/ENGLISH

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Amyotrophic lateral sclerosis 1

text: ND08466 female affected Amyotrophic lateral sclerosis 1 sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 12 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;emotional lability;episodes of emesis;vibration and proprioceptive abnormalities;decreased pain sensation;orthostatic hypotension;decreased lacrimation;donor subject is homozygous for the 2507+6T>C mutation in the IKBKAP gene;this donor splice site mutation (IVS20+6T>C) leads to deletion of exon 20 from the mRNA;mother is GM04896;father is GM04898;same donor as GM04899 fibroblast.

characteristic: family id

text: proband

text: IKBKAP

text: T>C

text: Homo sapiens

text: Caucasian

text: Female

text: Kinase-complex associated protein

text: IKBKAP

text: GM04900 female affected Neuropathy, hereditary sensory and autonomic type iii sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 79 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Affected spouse is ND08466;unaffected sister is ND08468.

text: ITALIAN

characteristic: ethnicity

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Control

text: Population/convenience control

text: Neurologically normal caucasian control panel

text: ND08467 male unaffected Control sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Glucocorticoid receptor

text: 56 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Dutch;elevated plasma & urinary free cortisol without Cushing's disease;hypertension;hypokalemia;normal number but decreased affinity of fibroblast receptors for cytosol;positive family history

text: DUTCH

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: GRL

text: Glucocorticoid receptor

text: GM04901 male affected Glucocorticoid receptor sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 55 YR

text: B-Lymphocyte

text: NINDS Repository

text: Affected sister-in-law is ND08466;unaffected brother is ND08467.

characteristic: description

text: SCANDINAVIAN;FRENCH;GERMAN

text: sister

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Population/convenience control

text: ND08468 female unaffected Population/convenience control sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Glucocorticoid receptor

text: 26 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Dutch;elevated plasma & urinary free cortisol without Cushing's disease;no clinical manifestations;normal number but decreased affinity of fibroblast receptors for cytosol

text: DUTCH

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: GRL

characteristic: tag

text: Glucocorticoid receptor

text: GM04902 male affected Glucocorticoid receptor sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Parkinson disease

text: 72 YR

text: B-Lymphocyte

text: NINDS Repository

text: Affected brother is ND07946.

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: ND08472 male affected Parkinson disease sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 30 YR

characteristic: age

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;1 first cousin & 2 second cousins have adrenoleukodystrophy;abnormal C26:C22 fatty acid ratio in plasma & cultured fibroblasts;see GM04674A Lymphoid

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Adrenoleukodystrophy

text: ALD

text: GM04903 female unaffected Adrenoleukodystrophy sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Epilepsy

text: 8 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Affected mother is ND08474.

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy generalized: caucasian

text: Epilepsy

text: ND08473 male affected Epilepsy sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Adrenoleukodystrophy

text: 11 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Elevated C26:C22 fatty acid in fibroblasts;adrenal insufficiency;progressive white matter disease;progressively deteriorating intellectual function;one 2nd and two 3rd maternal cousins have ALD;see GM04673B Lymphoid

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Adrenoleukodystrophy

text: ALD

text: GM04904 male affected Adrenoleukodystrophy sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Epilepsy

text: 35 YR

text: B-Lymphocyte

text: NINDS Repository

text: Affected son is ND08473.

text: mother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Epilepsy generalized: caucasian

text: Epilepsy

text: ND08474 female affected Epilepsy sample


text: Coriell

text: live

text: Generic

text: Bannayan-riley-ruvalcaba syndrome

text: 4 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: No hemangiomas;low-normal IQ;delayed expressive language skills;3 affected generations

characteristic: description

text: FRENCH/GERMAN

characteristic: ethnicity

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: BRRS

text: Bannayan-riley-ruvalcaba syndrome

text: GM04910 female affected Bannayan-riley-ruvalcaba syndrome sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 37 YR

text: B-Lymphocyte

text: NINDS Repository

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: Amyotrophic lateral sclerosis 1

text: ND08497 female affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Kniest dysplasia

text: 20 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Midface hypoplasia;protuberant eyes;cleft palate;sec conductive deafness;retinal detachment;myopia;normal IQ;neg family history;urine MPS excretion normal but keratan sulfate is elevated & 65% is poorly degraded dermatan sulfate

text: Homo sapiens

text: Caucasian

text: Male

text: Kniest dysplasia

text: GM04911 male affected Kniest dysplasia sample

characteristic: title


text: Coriell

text: live

text: Generic

text: Epilepsy

text: 7 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected mother is ND08504.

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy generalized: caucasian

text: Epilepsy

text: ND08503 male affected Epilepsy sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Glucosidase acid alpha

text: 4 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Biventricular hypertrophy;enlarged tongue;areflexia;decreased muscle tone;slightly enlarged liver;respiratory difficulties;fever;and cyanosis;expired at age 6 months;negative family history;no detectable mRNA for GAA;no GAA protein detected by antibody;deficient acid-alpha-1;4 glucosidase activity (0.21%);normal debrancher enzyme activity;donor subject is a compound heterozygote: allele one has a deletion of a T at nucleotide 1441 (1441delT) in exon 10 of the GAA gene resulting in a frameshift and premature termination 39 amino acids downstream from the mutation site;allele two carries a G>A transition at nucleotide 2237 in exon 16 (2237G>A) which results in the conversion of a tryptophan at amino acid 746 to a nonsense codon Trp746Ter (W746X)

characteristic: family id

text: proband

text: GAA

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Black

text: Male

text: Glucosidase acid alpha

text: GAA

text: Glycogen storage disease ii

text: GM04912 male affected Glucosidase acid alpha sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 30 YR

text: B-Lymphocyte

text: NINDS Repository

text: Affected son is ND08503.

characteristic: description

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: ND08504 female 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: Krabbe disease

text: 21 FW

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Spleen biopsy;positive family history;almost no detectable galactosylceramide B-galactosidase activity in brain;spleen;and cultured amniotic fluid cells;same patient as GM04914

text: GREEK

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

text: Krabbe disease

characteristic: tag

text: GM04913 unknown affected Krabbe disease sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Epilepsy

text: 9 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected father is ND08506.

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Epilepsy generalized: caucasian

text: Epilepsy

text: ND08505 male affected Epilepsy sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Krabbe disease

text: 21 FW

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Brain biopsy;positive family history;almost no detectable galactosylceramide B-galactosidase activity in brain;spleen;and cultured amniotic fluid cells;same patient as GM04913

text: GREEK

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Krabbe disease

text: GM04914 unknown affected Krabbe disease sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 40 YR

text: B-Lymphocyte

text: NINDS Repository

text: Affected son is ND08505.

characteristic: description

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND08506 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Huntington disease

text: 56 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Choreic movements & dementia;1st cousin once removed to proband;see GM05030B Fibroblast

text: cousin

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Huntington disease

text: HD

text: GM04915 male affected Huntington disease sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Intracranial aneurysm - unruptured

text: 66 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

characteristic: tag

text: ND08517 female affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Multiple sulfatase deficiency

text: 4 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Severe mental retardation;dysostosis multiplex;ichthyosis rash;arylsulfatase A in fibroblasts 23% of normal;but less than 5% in urine;leukocytes;and serum;elevated urinary sulfatides and MPS

text: Homo sapiens

text: Caucasian

text: Male

text: Multiple sulfatase deficiency

text: GM04916 male affected Multiple sulfatase deficiency sample


text: Coriell

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 66 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Intracranial aneurysm unruptured: caucasian

text: Intracranial aneurysm - unruptured

text: ND08518 female affected Intracranial aneurysm - unruptured sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 31 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Phenotypically normal;two children with balanced and one with unbalanced translocation;proband not in Repository

text: parent

text: 46;XX;t(4;8)(4qter>4p15::8p22>8pter;8qter>8p22::4p15>4pter)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Translocated chromosome

text: GM04921 female unaffected Translocated chromosome sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 57 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Control

text: Population/convenience control

text: ND08532 male unaffected Control sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Fmr1 gene

text: 42 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Mental retardation and macro-orchidism;46;fra(X)(q2800);Y in PBL;similarly affected brother and cousins;affected male by Southern analysis

characteristic: family id

text: proband

characteristic: gene

text: (CGG)n EXPANSION

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Fmr1 gene

text: Fragile x mental retardation syndrome

text: GM04926 male affected Fmr1 gene sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Epilepsy

text: 10 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Epilepsy

text: ND08534 female affected Epilepsy sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Aneuploid chromosome number - trisomy

text: 27 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Down syndrome phenotype;47;XY;+21;fra (16)(q22) in leukocytes;no fra(16) observed in lymphoblast cultures;see GM04928A Fibroblast

characteristic: description

text: proband

text: 47;XY;+21;47;XY;+21 47 /46;XY 3

text: Homo sapiens

text: Caucasian

text: Male

text: Trisomy 21

characteristic: tag

text: Aneuploid chromosome number - trisomy

text: GM04927 male affected Aneuploid chromosome number - trisomy sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 54 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Affected uncle is ND08554.

text: niece

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: ND08536 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Aneuploid chromosome number - trisomy

text: 27 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Down syndrome phenotype;47;XY;+21;fra (16)(q22) in leukocytes;no fra(16) was observed in fibroblasts;see GM04927D Lymphoid;t(17;22) was not observed in lymphoblast culture

text: proband

text: 47;XY;t(17;22)(17pter>17q25:: 22q11 or q12>22qter;22pter>22q11 or q22::17q25>17qter);+21;47;XY;t(17;22)(17pter>17q25:: 22q11 or q12>22qter;22pter>22q11 or q22::17q25>17qter);+21

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Trisomy 21

text: Aneuploid chromosome number - trisomy

text: GM04928 male affected Aneuploid chromosome number - trisomy sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 39 YR

text: B-Lymphocyte

text: NINDS Repository

text: Affected uncle is ND08554.

characteristic: family id

text: nephew

text: Homo sapiens

text: Caucasian

text: Male

text: ND08537 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Hemoglobin--beta locus

text: 1 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Gamma(A)+ thalassemia homozygote;nearly 100% gamma(G) in cord blood HbF;percentage was consistently greater than 90% up to 300 days after birth;46;XY;12% of cells show random chromosome loss

text: Homo sapiens

characteristic: organism

text: Black

characteristic: race

text: Male

text: Hemoglobin--beta locus

text: HBB

text: GM04930 male affected Hemoglobin--beta locus sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 34 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Affected uncle is ND08554.

characteristic: description

text: niece

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: Neurologically normal caucasian control panel

text: ND08538 female unaffected Control panel for young onset parkinsons: unaffected individuals sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 43 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Bipolar illness;positive family history;onset at age 33;chronic major depression;on protriptyline;skin biopsy (posterior iliac crest)

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: GM04931 male affected Major affective disorder - 125480 or 309200 sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 84 YR

text: B-Lymphocyte

text: NINDS Repository

text: Affected brother is ND08554.

text: brother-in-law

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Dna control panel for late onset parkinsons: unaffected individuals

text: ND08539 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Adrenoleukodystrophy

text: 10 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Maori tribe;New Zealand;many affected individuals in pedigree;elevated C26: C22 fatty acid ratio in fibroblasts;no clinical evidence of adrenal insufficiency;only microscopic evidence observed at autopsy

text: MAORI

characteristic: ethnicity

text: Homo sapiens

text: Polynesian

text: Male

text: Adrenoleukodystrophy

text: ALD

text: GM04932 male affected Adrenoleukodystrophy sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 47 YR

text: B-Lymphocyte

text: NINDS Repository

text: Affected uncle is ND08554.

characteristic: family id

text: nephew

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: ND08540 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Adrenoleukodystrophy

text: 8 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Affected uncles & cousins;adrenal insufficiency;elevated C26: C22 fatty acid ratio in fibroblasts & plasma;onset at age 2;normal neurological examination

characteristic: description

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Adrenoleukodystrophy

text: ALD

text: GM04933 male affected Adrenoleukodystrophy sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 43 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Affected uncle is ND08554.

text: niece

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND08541 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Adrenoleukodystrophy

text: 7 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Elevated C26:C22 fatty acid ratio in fibroblasts and plasma

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Adrenoleukodystrophy

text: ALD

text: GM04934 male affected Adrenoleukodystrophy sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 46 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Affected uncle is ND08554.

text: niece

text: Homo sapiens

text: Caucasian

text: Female

text: ND08542 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Gilles de la tourette syndrome

text: 66 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;motor tics;coprolalia;various compulsions since childhood;negative family history;see GM04938 lymphocyte

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: GTS

text: Gilles de la tourette syndrome

text: GM04937 female affected Gilles de la tourette syndrome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 47 YR

text: B-Lymphocyte

text: NINDS Repository

text: Affected in-law is ND08554.

characteristic: family id

text: in-law

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: Neurologically normal caucasian control panel

text: ND08543 male unaffected Control panel for young onset parkinsons: unaffected individuals sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Gilles de la tourette syndrome

text: 66 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;motor tics;coprolalia;various compulsions since childhood;negative family history;see GM04937 fibroblast

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: GTS

text: Gilles de la tourette syndrome

text: GM04938 female affected Gilles de la tourette syndrome sample


text: Coriell

text: live

text: Generic

text: 61 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Affected uncle is ND08554.

characteristic: description

text: niece

characteristic: gene

text: (GGGGCC)n EXPANSION

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: ND08544 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 1 DA

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Multiple congenital anomalies including microcephaly with low forehead;lowset large external ears with thick helix;low nasal bridge with round fleshy nasal tip and upturned nares;hypertelorism;strabismus;high arched palate;migrognathia;short neck with low hair line;tracheolaryngeal hypoplasia with respiratory distress;bilateral iris colobomas;spina bifida;esophageal atresia;tetralogy of Fallot with cardiomyopathy;and single fused midline kidney

characteristic: karyotype

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Triploid chromosome number

characteristic: tag

text: GM04939 female unaffected Triploid chromosome number sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 36 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Affected uncle is ND08554.

text: nephew

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: ND08545 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: 22 FW

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Partial monosomy chromosome 1;polysplenism;cephalohematoma

text: Homo sapiens

text: Caucasian

text: Female

text: Chromosome deletion

text: GM04940 female unaffected Chromosome deletion sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 31 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Affected uncle is ND08554.

characteristic: description

characteristic: family id

text: nephew

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: ND08546 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 58 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Type I bipolar illness;positive family history;onset at age 33;1 manic episode & 3 major depressive episodes;on Lithium

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: GM04942 female affected Major affective disorder - 125480 or 309200 sample


text: Coriell

text: live

text: Generic

text: 39 YR

text: B-Lymphocyte

text: NINDS Repository

text: Affected uncle is ND08554.

text: niece

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: tag

text: ND08547 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 55 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Schizo-affective manic & schizo-affective depressed;anti-social personality;onset at age 19;4 episodes of major depression;1 episode of mania;& 4 episodes of hypomania;on Lithium;see GM05218A Fibroblast

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: GM04946 male affected Major affective disorder - 125480 or 309200 sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 35 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Affected uncle is ND08554.

text: niece

text: Homo sapiens

text: Caucasian

text: Female

text: ND08548 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 55 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Type I bipolar illness;positive family history;onset at age 38;3 episodes of major depression;5 episodes of mania;on Lithium;see GM05220 Fibroblast

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: GM04949 male affected Major affective disorder - 125480 or 309200 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 40 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Affected father is ND08554.

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: ND08549 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 38 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Type I bipolar illness;positive family history;onset at age 32;hyperthymic personality;4 episodes of mania;unknown number of minor depressive episodes;on Lithium;see GM05222 Fibro

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: GM04950 male affected Major affective disorder - 125480 or 309200 sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 46 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Affected father is ND08554.

characteristic: description

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: ND08550 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 65 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Type II bipolar illness;positive family history;onset at age 43;3 episodes of major depression;3 episodes of hypomania;on Lithium;a daughter has acute intermittent porphyria;patient tested negative;see GM05221 Fibroblast

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: GM04952 male affected Major affective disorder - 125480 or 309200 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 43 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Affected father is ND08554;unaffected sister is ND08553;unaffected brother is ND08552;unaffected mother is ND08559;unaffected sister is ND08549;unaffected brother is ND08555.

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: ND08551 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 41 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;donor subject is heterozygous for the 2507+6T>C mutation in the IKBKAP gene;this donor splice site mutation (IVS20+6T>C) leads to deletion of exon 20 from the mRNA;affected child is GM04960

text: mother

text: IKBKAP

characteristic: gene

characteristic: mutation

text: T>C

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Inhibitor of kappa light polypeptide gene enhancer in b cells

characteristic: tag

text: Kinase-complex associated protein

text: IKBKAP

text: GM04956 female unaffected Neuropathy, hereditary sensory and autonomic type iii sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 37 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Affected father is ND08554;unaffected sister is ND08553;unaffected brother is ND08551;unaffected mother is ND08559;unaffected sister is ND08549;unaffected brother is ND08555.

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: ND08552 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: 49 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically unaffected;donor subject is heterozygous for the 2507+6T>C mutation in the IKBKAP gene;this donor splice site mutation (IVS20+6T>C) leads to deletion of exon 20 from the mRNA;affected child is GM04959

text: father

text: IKBKAP

text: T>C

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Kinase-complex associated protein

text: IKBKAP

text: GM04957 male unaffected Neuropathy, hereditary sensory and autonomic type iii sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 42 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Affected father is ND08554;unaffected brother is ND08552;unaffected brother is ND08551;unaffected mother is ND08559;unaffected sister is ND08549;unaffected brother is ND08555.

characteristic: description

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: ND08553 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: 10 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;decreased lacrimation;hypotension;small stature;decreased sensation to pain and vibration;constipation;hypohidrosis;donor subject is homozygous for the 2507+6T>C mutation in the IKBKAP gene;this donor splice site mutation (IVS20+6T>C) leads to deletion of exon 20 from the mRNA;mother is GM04956;father is GM04957;same donor as GM04960 lymphocyte.

characteristic: family id

text: proband

text: IKBKAP

text: T>C

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Kinase-complex associated protein

text: IKBKAP

text: GM04959 female affected Neuropathy, hereditary sensory and autonomic type iii sample


text: Coriell

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 71 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

characteristic: gene

text: (GGGGCC)n EXPANSION

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: tag

text: Amyotrophic lateral sclerosis 1

text: ND08554 male affected Amyotrophic lateral sclerosis 1 sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 10 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;decreased lacrimation;hypotension;small stature;decreased sensation to pain and vibration;constipation;hypohidrosis;donor subject is homozygous for the 2507+6T>C mutation in the IKBKAP gene;this donor splice site mutation (IVS20+6T>C) leads to deletion of exon 20 from the mRNA;mother is GM04956;father is GM04957;same donor as GM04959 fibroblast.

text: proband

text: IKBKAP

text: T>C

text: Homo sapiens

text: Caucasian

text: Female

text: Kinase-complex associated protein

text: IKBKAP

text: GM04960 female affected Neuropathy, hereditary sensory and autonomic type iii sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 45 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: son

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: ND08555 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 1 MO

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinical features of Down syndrome

characteristic: description

characteristic: karyotype

text: Homo sapiens

text: Asian

text: Male

text: Trisomy 21

text: GM04965 male affected Aneuploid chromosome number - non-trisomic sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 55 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Affected in-law is ND08554.

characteristic: family id

text: in-law

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Population/convenience control

text: ND08556 male unaffected Population/convenience control sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: 60 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Type II bipolar illness with major depression;positive family history;2 episodes of dysphoria;poor appetite;loss of energy;loss of interest;& slowed down movements;onset at age 49;on Elavil;see GM05216 Fibroblast

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: tag

text: GM04972 female affected Major affective disorder - 125480 or 309200 sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 30 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Affected uncle is ND08554.

text: nephew

text: Homo sapiens

text: Caucasian

text: Male

text: ND08557 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Muscular dystrophy: duchenne type

text: 13 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;pseudohypertrophy of calves;severe proximal muscle weakness;positive Gower's sign;muscle biopsy shows advanced dystrophic process;elevated serum CPK of 13;020;affected brother and maternal male first cousin;mother is GM04982;dystrophin gene shows no detectable deletion or duplication by multiplex ligation probe amplification (MLPA) analysis;DNA sequencing showed this donor has a C>T transition at nucleotide 5893 of the DMD gene (c.5893C>T) resulting in a stop at codon 1965 Gln1965Ter (Q1965X)

text: proband

text: DMD

characteristic: gene

text: arr 1q23.3(159775402-159888781)x3;8p23.1(12284193-12487414)x3

characteristic: mutation

text: Homo sapiens

text: Black

text: Male

characteristic: sex

text: Muscular dystrophy: duchenne type

text: DMD

text: GM04978 male affected Muscular dystrophy: duchenne type sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 36 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Affected uncle is ND08554.

characteristic: description

text: nephew

text: Homo sapiens

text: Caucasian

text: Male

text: ND08558 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: BMD

text: 6 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;Becker type;positive Gower's sign;significant lordosis;pseudohypertrophy of calves;muscle weakness;atrophy of shoulder girdle musculature;muscle biopsy diagnosed muscular dystrophy with the comment although the number of actively degenerating fibers in this sample is small;neither the character nor the degree of change enables one to distinguish Becker from Duchenne dystrophy;elevated CPK of 2;840;PCR analysis of dystrophin gene shows deletion starting at (and including) exon 45 through at least exon 52;exon 60 is not deleted;MLPA analysis of Dystrophin gene alterations and copy number variation (CNV) analysis using the Affymetrix 6.0 gene chip performed on DNA made from this culture showed the deletion of exons 45-53;2 affected maternal uncles

characteristic: family id

text: proband

text: DMD

text: arr Xp21.1(31705284-31919574)x0

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: BMD

text: DMD

text: Dystrophin

text: Muscular dystrophy: becker type

text: GM04981 male affected BMD sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 66 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Affected spouse is ND08554.

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND08559 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 34 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically unaffected;normal CPK;PCR analysis of dystrophin gene shows no detectable deletion or duplication;2 affected sons & 1 affected nephew;mother of GM04978.

text: mother

text: Homo sapiens

text: Black

text: Female

characteristic: sex

text: Muscular dystrophy: duchenne type

text: DMD

text: GM04982 female unaffected Muscular dystrophy: duchenne type sample


text: Coriell

text: live

text: Generic

text: 55 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Affected in-law is ND08554.

characteristic: description

text: in-law

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: ND08560 male unaffected Population/convenience control sample

characteristic: title


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: 20 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Type I bipolar illness;onset at age 17;3 manic episodes;drug abuse;on Lithium;positive family history;see GM05224 Fibroblast

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: GM04984 male affected Major affective disorder - 125480 or 309200 sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 19 YR

text: B-Lymphocyte

text: NINDS Repository

text: Affected uncle is ND08554.

text: niece

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: ND08561 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

characteristic: NCBI submission model

text: 43 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Type I bipolar illness;positive family history;onset at age 18;3 episodes of major depression;indeterminate number of manic episodes;on Lithium;see GM05226 Fibroblast

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: GM04985 female affected Major affective disorder - 125480 or 309200 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 22 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Affected uncle is ND08554.

text: nephew

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: ND08562 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 28 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Type I bipolar illness;onset at age 17;5 major depressive episodes & 2 manic episodes;on Lithium;see GM05225 Fibro

text: brother

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: GM04986 male affected Major affective disorder - 125480 or 309200 sample


text: Coriell

text: live

text: Generic

text: 19 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: niece

text: Homo sapiens

text: Caucasian

text: Female

text: ND08563 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 1 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Congenital heart disease;genitourinary anomalies;malrotation of bowel;& dysmorphic features

characteristic: description

text: 46;XX;der(10)(pter>10q26:: 4q31>4qter)mat;46;XX;der(10)t(4;10)(pter->10q26::4q31->4qter)mat.arr 4q31.3q32.1(152982470-161254354)x3;10q26.13q26.3(124305155-135356682)x1

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Translocated chromosome

text: GM04993 female unaffected Translocated chromosome sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 41 YR

text: B-Lymphocyte

text: NINDS Repository

text: POLISH;ITALIAN;HUNGARIAN

characteristic: ethnicity

characteristic: family id

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Population/convenience control

text: ND08573 female unaffected Population/convenience control sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: PXE

text: 60 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;similarly affected sib;involvement includes eyes;skin;& gastrointestinal tract;neither parent showed signs of PXE;donor subject is a compound heterozygote: allele 1 carries a C>T transition at nucleotide 3421 (3421C>T) in exon 24 of the ABCC6 gene resulting in an Arg to Ter substitution at codon 1141 Arg1141Ter (R1141X);allele 2 carries a C>T transition at nucleotide 3490 (3490C>T) in exon 24 resulting in an Arg to Ter substitution at codon 1164 Arg1164Ter (R1164X) .

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Atp-binding cassette, subfamily c member 6

text: Pseudoxanthoma elasticum autosomal recessive

text: PXE

text: GM04994 male affected PXE sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Epilepsy

text: 13 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: Male

characteristic: sex

text: Epilepsy generalized: caucasian

characteristic: tag

text: Epilepsy

text: ND08580 male affected Epilepsy sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 27 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Type 1 bipolar illness;positive family history;onset at age 22;3 episodes of major depression;indeterminate number of episodes of mania;hyperthymic personality;on Lithium;see GM05227 Fibro.

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: GM04996 female affected Major affective disorder - 125480 or 309200 sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: 46 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother is ND08586;unaffected father is ND08587;unaffected spouse is ND08589.

text: GERMAN

characteristic: ethnicity

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Als panel caucasian from the united states

text: Als panel caucasian from the us

text: Amyotrophic lateral sclerosis 1

text: ND08585 female affected Als panel upper-limb onset definite and probable als sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Dyggve-melchior-clausen disease

text: 23 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Lebanese;consanguineous parents;2 affected sibs;mental deficiency & dwarfism;passage 3 at CCR

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Dyggve-melchior-clausen disease

text: GM04997 male affected Dyggve-melchior-clausen disease sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 71 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Affected daughter is ND08585;unaffected spouse is ND08587;unaffected son-in-law is ND08789.

text: GERMAN

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND08586 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: Glutaricacidemia i

text: 2 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Delayed motor & mental development;dystonia;spasticity;choreoathetosis;& metabolic acidosis;deficient glutarylCoA dehydrogenase activity;negative family history;donor subject is a compound heterozygote: one allele has a G>A transition at nucleotide 344 in exon 5 of the GCDH gene (C.344G>A) resulting in the substitution of tyrosine for cysteine at codon 115 Cys115Tyr (C115Y);and the second allele has a C>T transition at nucleotide 743 in exon 7 (c.743C>T) resulting in a substitution of leucine for proline at codon 248 Pro248Leu (P248L)

text: IRISH

text: GCDH

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Glutaricacidemia i

text: GM05002 male affected Glutaricacidemia i sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 75 YR

text: B-Lymphocyte

text: NINDS Repository

text: Affected daughter is ND08585;unaffected spouse is ND08586;unaffected son-in-law is ND08589.

characteristic: description

text: GERMAN

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: ND08587 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Hartnup disorder

text: 18 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Mental retardation and typical aminoaciduria;defective intestinal transport of tryptophan and phenylalanine;similarly affected brother;donor subject is homozygous for a G>A transition at nucleotide 517 in exon 4 of the SLC6A19 gene (517G>A)resulting in the substitution of asparagine for aspartic acid at codon 173 Asp173Asn (D173N)

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Hartnup disorder

text: Solute carrier family 6 (neurotransmitter transporter) member 19

text: GM05003 male affected Hartnup disorder sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 48 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Affected spouse is ND08585;unaffected mother-in-law is ND08586;unaffected father-in-law is ND08587.

text: IRISH;DUTCH

characteristic: ethnicity

text: spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Population/convenience control

text: ND08589 male unaffected Population/convenience control sample


text: Coriell

text: live

text: Generic

text: Hartnup disorder

text: 15 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Mental retardation and typical aminoaciduria;similarly affected brother;defective intestinal transport of tryptophan and phenylalanine;donor subject is homozygous for a G>A transition at nucleotide 517 in exon 4 of the SLC6A19 gene (517G>A)resulting in the substitution of asparagine for aspartic acid at codon 173 Asp173Asn (D173N)

text: brother

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Hartnup disorder

text: GM05004 male affected Hartnup disorder sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Epilepsy

text: 1 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

characteristic: tag

text: ND08613 female affected Epilepsy sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Protoporphyria

text: 15 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Photosensitivity since infancy;deficient heme synthetase activity;normal delta-aminolevulinic acid synthetase activity;positive family history;fibro show normal ferrochelatase mRNA levels & def enzyme activity

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Erythropoietic

text: Protoporphyria

text: GM05005 female affected Protoporphyria sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 55 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Affected brother is ND06751;unaffected brother is ND07189;unaffected sister is ND07191;unaffected brother is ND07267;unaffected brother is ND07332;unaffected sister is ND07612.

characteristic: family id

text: brother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: ND08616 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: Protoporphyria

text: 40 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Photosensitivity since infancy;deficient heme synthetase activity;normal delta-aminolevulinic acid synthetase activity;2 affected children;fibro show normal ferrochelatase mRNA levels & def enzyme activity

text: father

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Erythropoietic

text: Protoporphyria

text: GM05007 male affected Protoporphyria sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 44 YR

text: B-Lymphocyte

text: NINDS Repository

text: POLISH;RUSSIAN;IRISH;ITALIAN

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Als panel: caucasians from north america lower-limb onset

text: Als panel caucasian from the united states

text: Als panel caucasian from the us

text: Amyotrophic lateral sclerosis 1

text: ND08617 male affected Als panel lower-limb onset definite and probable als sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Protoporphyria

text: 26 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Photosensitivity since infancy;def heme synthetase activity;normal delta-aminolevulinic acid synthetase activity;sim aff sister;fibro show normal ferrochelatase mRNA levels & def enzyme activity;T>C (Phe>Ser) at amino acid #417

text: Homo sapiens

text: Caucasian

text: Female

text: Erythropoietic

characteristic: tag

text: Protoporphyria

text: GM05008 female affected Protoporphyria sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Epilepsy

text: 16 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother is ND08633.

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy generalized: caucasian

text: Epilepsy

text: ND08632 female affected Epilepsy sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 6 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Growth and development delay;hypotonia;mongoloid facies;and unusual hands and feet;10% of cells are 48;XXXX

characteristic: description

text: 48;XXXX/49;XXXXX;49;XXXXX;49;XXXXX/49;XXXXX;t(1;18);49;XXXXX 31 /48;XXXX 15 /48;XXXX;t(1;18)(1qter>1p36::18q21>18qter;18pter>18q21::1p36>1pter) 2 /49;XXXXX;t(1;18)(1qter>1p36::18q21>18qter;18pter>18q21::1p36>1pter) 2

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Xxxxx syndrome

text: GM05009 female unaffected Aneuploid chromosome number - non-trisomic sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 49 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Affected daughter is ND08632.

characteristic: family id

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND08633 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 19 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Primary amenorrhea;lack of secondary sexual development;no dysmorphic features;normal IQ;streak gonads and hypoplastic uterus;possible del(X)(q21>q22.3);normal X is late replicating with 5% of cells showing label on trans X segment;see GM05011A Lymphoid

text: proband

text: 46;X;t(X;8;2)(Xpter>Xq21.2::2q14.2> 2qter;8qter> 8p11.1::Xq21.2>Xqter;2pter>2q14.2::8p11.1>8pter)

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Translocated chromosome

text: GM05010 female unaffected Translocated chromosome sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Parkinson disease

text: 44 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Parkinson disease

text: ND08648 female affected Parkinson disease sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 19 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Primary amenorrhea;lack of secondary sexual development;normal IQ;no dysmorphic features;see GM05010 Fibroblast;possible del(X)(q21.2q22.3);normal X is late replicating

text: proband

text: 46;X;t(X;2;8)(Xpter>Xq21.2::2q14.2> 2qter;2pter>2q14.2::8p11.1>8pter;8qter> 8p11.1::Xq21.2>Xqter);46;X;t(X;8;2)(Xpter>Xq21.2::2q14.2> 2qter;8qter> 8p11.1::Xq21.2>Xqter;2pter>2q14.2::8p11.1>8pter);arr(1-22;X)x2

text: Homo sapiens

text: Caucasian

text: Female

text: Translocated chromosome

characteristic: tag

text: GM05011 female unaffected Translocated chromosome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 20 YR

text: B-Lymphocyte

text: NINDS Repository

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: ND08649 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: DMD

text: 12 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected with Duchenne muscular dystrophy;diagnosis made at age 4;progressive muscular dystrophy;weakness;waddling gait noted at age 4 and subsequent progressive deterioration in walking ability;wheelchair bound by age 10;at age 10 there was good upper arm strength;no scoliosis;inability to lift leg off wheelchair pad;son of GM05022/23;elevated CPK;muscle biopsy performed but results unavailable;donor subject has a deletion of exons 45-50 in the dystrophin gene as determined by multiplex PCR;same donor as GM05017 (fibroblast).

characteristic: description

text: proband

text: DMD

characteristic: gene

text: arr Xp21.1(31724075-31928364)x0

characteristic: karyotype

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Muscular dystrophy: duchenne type

text: DMD

text: Dystrophin

text: GM05016 male affected DMD sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 80 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: family id

text: sister

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND08653 female affected Intracranial aneurysm - unruptured sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: DMD

text: 12 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected with Duchenne muscular dystrophy;diagnosis made at age 4;progressive muscular dystrophy;weakness;waddling gait noted at age 4 and subsequent progressive deterioration in walking ability;wheelchair bound by age 10;at age 10 there was good upper arm strength;no scoliosis;inability to lift leg off wheelchair pad;son of GM05022/23;elevated CPK;muscle biopsy performed but results unavailable;donor subject has a deletion of exons 45-50 in the dystrophin gene as determined by multiplex PCR;same donor as GM05016 (lymphocyte).

text: proband

text: DMD

text: arr Xp21.1(31724075-31928364)x0

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Muscular dystrophy: duchenne type

text: DMD

text: Dystrophin

text: GM05017 male affected DMD sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Subarachnoid hemorrhage

text: 65 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Subarachnoid hemorrhage

characteristic: tag

text: Subarachnoid hemorrhage, caucasian from north america

text: ND08666 male affected Subarachnoid hemorrhage sample


text: Coriell

text: live

text: Generic

text: Huntington disease

text: 56 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Choreic movements and dementia;1st cousin once removed to proband;see GM04915B Lymphoid

characteristic: description

text: cousin

text: Homo sapiens

text: Caucasian

text: Male

text: Huntington disease

text: HD

text: GM05030 male affected Huntington disease sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 76 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND08667 female affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

text: Generic

text: Huntington disease

text: 60 YR

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Choreic movements and dementia;1st cousin once removed to proband;see GM04894 Lymphoid

text: cousin

text: Homo sapiens

text: Caucasian

text: Male

text: Huntington disease

text: HD

text: GM05031 male affected Huntington disease sample


text: Coriell

text: live

text: Generic

text: Epilepsy

text: 20 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Epilepsy generalized: caucasian

text: Epilepsy

text: ND08672 female affected Epilepsy sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 23 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;severely affected;repeated respiratory & gastrointestinal crises;requires hospitalization for gastrointestinal crises several times per year;severe scoliosis;classical diagnostic features;absent papillae of tongue;abnormal histamine test;donor subject is homozygous for the 2507+6T>C mutation in the IKBKAP gene;this donor splice site mutation (IVS20+6T>C) leads to deletion of exon 20 from the mRNA;affected sister is GM05042;unaffected sisters are GM05043;GM05044;mother is GM05046;father is GM05045.

text: ASHKENAZI

characteristic: ethnicity

text: proband

text: IKBKAP

characteristic: gene

characteristic: karyotype

characteristic: mutation

text: T>C

text: Homo sapiens

text: Caucasian

text: Male

text: Inhibitor of kappa light polypeptide gene enhancer in b cells

text: Kinase-complex associated protein

text: IKBKAP

text: GM05041 male affected Neuropathy, hereditary sensory and autonomic type iii sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 26 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Population/convenience control

text: ND08673 male unaffected Population/convenience control sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 18 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;donor subject is homozygous for the 2507+6T>C mutation in the IKBKAP gene;this donor splice site mutation (IVS20+6T>C) leads to deletion of exon 20 from the mRNA

characteristic: description

text: sister

text: IKBKAP

text: T>C

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: Kinase-complex associated protein

text: IKBKAP

text: GM05042 female affected Neuropathy, hereditary sensory and autonomic type iii sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Epilepsy

text: 2 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Epilepsy

text: ND08678 female affected Epilepsy sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 16 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;normal histamine test;donor subject is negative for the common IVS20+6T>C mutation and the R696P mutation in the IKBKAP gene.

text: ASHKENAZI

characteristic: ethnicity

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: GM05043 female unaffected Neuropathy, hereditary sensory and autonomic type iii sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 21 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: daughter

text: Homo sapiens

text: More than one race

characteristic: race

text: Female

characteristic: sex

text: ND08681 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 22 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;normal histamine test;donor subject has one allele which has the 2507+6T>C mutation in the IKBKAP gene;this donor splice site mutation (IVS20+6T>C) leads to deletion of exon 20 from the mRNA;the second allele tested negative for the IVS20+6T>C and R696P mutations.

characteristic: description

text: ASHKENAZI

text: sister

text: IKBKAP

characteristic: gene

characteristic: mutation

text: T>C

text: Homo sapiens

text: Caucasian

text: Female

text: Kinase-complex associated protein

text: IKBKAP

text: GM05044 female unaffected Neuropathy, hereditary sensory and autonomic type iii sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 79 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: maternal aunt

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND08683 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 59 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;normal histamine test;donor subject has one allele which has the 2507+6T>C mutation in the IKBKAP gene;this donor splice site mutation (IVS20+6T>C) leads to deletion of exon 20 from the mRNA;the second allele tested negative for the IVS20+6T>C and R696P mutations;affected children are GM05041;GM05042.

text: ASHKENAZI

characteristic: ethnicity

characteristic: family id

text: father

text: IKBKAP

text: T>C

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Kinase-complex associated protein

text: IKBKAP

text: GM05045 male unaffected Neuropathy, hereditary sensory and autonomic type iii sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 34 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected mother is ND08706.

text: FRENCH

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Als panel caucasian from the united states

text: Als panel caucasian from the us

text: Amyotrophic lateral sclerosis 1

text: ND08705 male affected ALS1 sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 51 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: description

text: ASHKENAZI

text: mother

text: IKBKAP

characteristic: gene

characteristic: mutation

text: T>C

text: Homo sapiens

text: Caucasian

text: Female

text: Kinase-complex associated protein

text: IKBKAP

text: GM05046 female unaffected Neuropathy, hereditary sensory and autonomic type iii sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 64 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Affected son is ND08705.

text: FRENCH

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND08706 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 23 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Spastic diplegia;mental retardation;seizures;& minimal pectus carinatum

characteristic: family id

text: proband

text: 46;XY;dup(10)(pter->q23.2::q11.2->qter).arr 4q31.22(145140212-145252334)x3;10q11.22q23.2(48548784-88867811)x3;46;XY;dup(10)(pter>q23.2::q11.2>qter)

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Duplicated chromosome

text: GM05047 male unaffected Duplicated chromosome sample