text: Coriell

text: live

text: Generic

text: Cleft palate, isolated

text: 20 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Bilateral cleft palate;negative family history for cleft palate;no mental retardation

text: Homo sapiens

text: Caucasian

text: Male

text: Cleft palate, isolated

text: CPI

text: GM13896 male affected Cleft palate, isolated sample

characteristic: title


status: PUBLIC

characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 29 YR

tag: attribute

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

characteristic: family id

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

characteristic: sex

characteristic: tag

text: ND24693 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: Orofacial cleft 1 ofc1

text: 3 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Unilateral cleft lip & palate (left);brother & male cousin have cleft lip only

characteristic: description

text: Homo sapiens

text: Caucasian

text: Female

text: Orofacial cleft 1 ofc1

text: GM13897 female affected Orofacial cleft 1 ofc1 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 58 YR

text: B-Lymphocyte

text: NINDS Repository

text: grandmother

text: Homo sapiens

text: Caucasian

text: Female

text: ND24694 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Ataxia-telangiectasia

text: 15 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Diagnosed at age 2;telangiectasias of eyes & upper palate since age 7;began using a wheelchair at age 8;can walk with assistance at age 14;elevated serum AFP;recurrent minor colds;reduced IgA

text: Homo sapiens

text: Caucasian

text: Female

text: AT

text: Ataxia-telangiectasia

text: GM13898 female affected Ataxia-telangiectasia sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Tourette syndrome

text: 7 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND24695 male affected Tourette syndrome sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Ataxia-telangiectasia

text: 9 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Diagnosed at age 8;telangiectasias of eyes;cheeks;ears;& back of neck since age 7;elevated serum AFP;reduced IgE

text: Homo sapiens

text: Caucasian

text: Female

text: AT

text: Ataxia-telangiectasia

text: GM13899 female affected Ataxia-telangiectasia sample


text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 41 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Tourette syndrome

text: ND24696 female affected Tourette syndrome sample


text: Coriell

text: live

text: Generic

text: AT

text: 21 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;diagnosed at age 2 to 3 yr;began using a wheelchair and wheelchair-dependent at age 17 yr;telangiectasias of eyes;elbows;and feet since age 5 to 6 yr;2 episodes of pneumonia following chemotherapy for lymphoma at age 17;donor subject has a G>C change at nucleotide 3993 in exon 28 of the ATM gene (3993G>C) resulting in the in frame skipping of exon 28;a second mutation was not reported

text: ATM

characteristic: gene

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: AT

text: Ataxia-telangiectasia

text: Ataxia-telangiectasia mutated gene

text: ATM

text: GM13906 male affected AT sample


text: Coriell

text: live

text: Generic

text: 32 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: parent

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

characteristic: tag

text: ND24703 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Epilepsy

text: 9 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

text: ND24704 female affected Epilepsy sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 33 YR

text: B-Lymphocyte

text: NINDS Repository

text: parent

text: Homo sapiens

text: Caucasian

text: Female

text: ND24705 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: AT

text: 18 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;diagnosed at age 2 yr;telangiectasias of eyes;arms;and legs since age 2 yr;wheelchair-dependent since age 8 yr;chromosome studies showed increased spontaneous breakage;donor subject is a compound heterozygote: one allele has a G>A change at nucleotide 2250 of the ATM gene (2250G>A) resulting in the in-frame skipping of exon 16 leading to a 42 codon deletion beginning at codon 709 (I709del42);the second allele has an A>G change in intron 49 (IVS49-2A>G) resulting in the in-frame skipping of exon 50 leading to a 38 codon deletion beginning at codon 2315 (M2315del38)

characteristic: description

text: ATM

text: IVS49-2 A>G

text: Homo sapiens

text: Caucasian

text: Female

text: AT

text: Ataxia-telangiectasia

text: Ataxia-telangiectasia mutated gene

text: ATM

text: GM13907 female affected AT sample


text: Coriell

text: live

text: Generic

text: Epilepsy

text: 37 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Epilepsy

text: ND24707 male affected Epilepsy sample


text: Coriell

text: live

text: Generic

text: AT

text: 20 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;diagnosed at age 2 yr;telangiectasias of eyes;hands;ankles;and feet;began using a wheelchair at age 8 yr;wheelchair-dependent at age 9 yr;elevated serum AFP;chromosome studies show increase spontaneous breakage;normal IgA;IgG;and IgM;reduced IgE;sister of GM13910;donor subject has a G>T change at nucleotide 5932 in exon 42 of the ATM gene (5932G>T) resulting in the skipping of exon 42 and a truncation Arg1973Ter (R1973X);a second mutation was not reported

characteristic: family id

text: proband

text: ATM

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: AT

text: Ataxia-telangiectasia

text: Ataxia-telangiectasia mutated gene

text: ATM

text: GM13909 female affected AT sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Epilepsy

text: 20 YR

text: B-Lymphocyte

text: NINDS Repository

text: sibling

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy

characteristic: tag

text: ND24709 male affected Epilepsy sample

characteristic: title


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: AT

text: 27 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Diagnosed at age 7.5 yr;telangiectasias of eyes;hands;and ankles;began using a wheelchair at age 8 yr;wheelchair-dependent at age 9 yr;chromosome studies showed increased spontaneous breakage;elevated serum AFP;normal IgG and IgM;reduced IgE;elevated IgA;sister of GM13909;donor subject has a G>T change at nucleotide 5932 in exon 42 of the ATM gene (5932G>T) resulting in the skipping of exon 42 and a truncation (Arg1973Ter (R1973X);a second mutation was not reported

text: sister

text: ATM

text: Homo sapiens

text: Caucasian

text: Female

text: AT

text: Ataxia-telangiectasia

text: Ataxia-telangiectasia mutated gene

text: ATM

text: GM13910 female affected AT sample


text: Coriell

text: live

text: Generic

text: Epilepsy

text: 13 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Epilepsy

text: ND24715 female affected Epilepsy sample


text: Coriell

text: live

text: Generic

text: Orofacial cleft 1 ofc1

text: 39 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Unilateral cleft lip (left);undescended testis (right);a brother has bilateral cleft lip & palate

characteristic: description

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Orofacial cleft 1 ofc1

text: GM13919 male affected Orofacial cleft 1 ofc1 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 50 YR

text: B-Lymphocyte

text: NINDS Repository

text: japanese

characteristic: ethnicity

characteristic: family id

text: father

text: Homo sapiens

text: Asian

text: Male

characteristic: sex

text: ND24716 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: AT

text: 14 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: AT306AIV5;ataxia at age 2 years;telangiectasias at age 3;diagnosed at age 3;elevated AFP;lymphoma;donor subject is a compound heterozygote: the maternal allele carries a C-to-T transition (CGA>TGA) at nucleotide 4396 (4396C>T) which converts the arg-1466 codon in exon 31 of the ATM gene to a nonsense codon ARG1466TER (R1466X);the paternal allele carries a G-to-A transition (TGG>TAG) at nucleotide 170 (170G>A) which converts the trp-57 codon in exon 5 of the ATM gene to a nonsense codon TRP57TER (W57X) .

text: ATM

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: AT

characteristic: tag

text: Ataxia-telangiectasia

text: Ataxia-telangiectasia mutated gene

text: ATM

text: GM13920 male affected AT sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 46 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: japanese

text: mother

text: Homo sapiens

text: Asian

text: Female

text: ND24717 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: AT

text: 37 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Diagnosed at age 15 yr;began using a wheelchair at age 17 yr;conjunctiva telangiectasias since age 3 to 4;reduced IgA;normal IgE;IgG;and IgM;sister (GM13922) is also affected;donor subject has an A>G change in intron 40 of the ATM gene (IVS40+1126A>G) resulting in a 137 bp insertion between exons 40 and 41;a frameshift and truncation (R1921fsX);a second mutation was not reported

characteristic: description

text: proband

text: ATM

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: AT

text: Ataxia-telangiectasia

text: Ataxia-telangiectasia mutated gene

text: ATM

text: GM13921 male affected AT sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Tourette syndrome

text: 14 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Tourette syndrome

text: ND24718 male affected Tourette syndrome sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: AT

text: 33 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;diagnosed at age 11 yr;conjunctiva telangiectasias since age 4 yr;wheelchair-dependent;but can walk if assisted;reduced IgA;normal IgE;IgG;and IgM;brother;GM13921;is also affected;donor subject has an A>G change in intron 40 of the ATM gene (IVS40+1126A>G) resulting in a 137 bp insertion between exons 40 and 41;a frameshift and truncation (R1921fsX);a second mutation was not reported

text: sister

text: ATM

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: AT

characteristic: tag

text: Ataxia-telangiectasia

text: Ataxia-telangiectasia mutated gene

text: ATM

text: GM13922 female affected AT sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 29 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND24734 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: Ataxia-telangiectasia

text: 12 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Diagnosed at age 2;began using a wheelchair at age 10;eye telangiectasias since age 2 to 3;elevated serum AFP;normal IgA;IgG;& IgM;low IgG2 subclass

characteristic: description

text: Homo sapiens

text: Caucasian

text: Male

text: AT

text: Ataxia-telangiectasia

text: GM13924 male affected Ataxia-telangiectasia sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Epilepsy

text: 8 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Epilepsy

text: ND24735 female affected Epilepsy sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Ataxia-telangiectasia

text: 7 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Diagnosed at age 5;telangiectasias of eyes & ears since age 2.5;sinus infections with head colds since age 6.5;reduced IgA & IgE;normal IgG & IgM;rheumatoid arthritis since age 4.5

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: AT

characteristic: tag

text: Ataxia-telangiectasia

text: GM13925 female affected Ataxia-telangiectasia sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 39 YR

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND24736 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 5 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Profound cholestasis without bile duct paucity or elevated gamma-glutamyltranspeptidase;normal bile acid synthesis;jaundice;short stature;similarly affected brother

text: proband

text: Homo sapiens

text: Asiatic Indian

text: Female

text: GM13933 female affected Low-ggt progressive familial intrahepatic cholestasis (not further characterized) sample


text: Coriell

text: live

text: Generic

text: 35 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND24737 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 4 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Profound cholestasis without bile duct paucity or elevated gamma-glutamyltranspeptidase;normal bile acid synthesis;jaundice;short stature

characteristic: description

text: brother

text: Homo sapiens

text: Asiatic Indian

text: Male

text: GM13934 male affected Low-ggt progressive familial intrahepatic cholestasis (not further characterized) sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 48 YR

text: B-Lymphocyte

text: NINDS Repository

text: parent

text: Homo sapiens

text: More than one race

text: Female

text: ND24756 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: Ataxia-telangiectasia

text: 9 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Diagnosed at age 7;began using a wheelchair & wheelchair-dependent at age 7;leg telangiectasias since age 7;elevated serum AFP;chromo studies showed increased spontaneous breakage;ears & sinus infections & bronchitis;reduced IgA

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: AT

text: Ataxia-telangiectasia

text: GM13935 male affected Ataxia-telangiectasia sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 51 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: parent

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: ND24757 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 38 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Phenotypically and clinically normal;NOR silver staining shows an NOR on the distal p-arm of the add(7);the breakpoint is distal to the 7p subtelomeric probe G31341

text: 46;XX;add(7)(7qter>7p22::?pstk>?ps).ish add(7)(D13Z1/D21Z1-;D14Z1/D22Z1-;D15Z-;G31341+;D7S589+;G31340+);46;XX;add(7)(7qter>7p22::?pstk>?ps).ish add(7)(D7S589+;D13Z1/D21Z1-;D14Z1/ D22Z1-;D15Z-)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Marker chromosome

characteristic: tag

text: GM13936 female unaffected Marker chromosome sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Epilepsy

text: 26 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: More than one race

text: Female

text: Epilepsy

text: ND24758 female affected Epilepsy sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 71 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Diagnosed at age 27-28;epistaxis from mucosal telangiectasias;gastrointestinal bleeding from mucosal telangiectasias;visceral angiodysplasias;conjunctival telangiectasias;skin telangiectasias

text: Homo sapiens

text: Caucasian

text: Female

text: HHT

text: GM13937 female affected Telangiectasia, hereditary hemorrhagic of rendu, osler and weber sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Epilepsy

text: 54 YR

text: B-Lymphocyte

text: NINDS Repository

text: sibling

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy

text: ND24759 male affected Epilepsy sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 9 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Short stature;rhizomelic shortening of all 4 extremities;lumbar lordosis;behavioral problems

characteristic: description

text: 46;X;del(X)(qter>p22.31:) or 46;del(X)(pter>p22.33::p22.2>qter).ish del(X)(STS-;DXS1140+)

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Chromosome deletion

text: GM13940 female unaffected Chromosome deletion sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Epilepsy

text: 13 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Epilepsy

text: ND24760 female affected Epilepsy sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Ataxia-telangiectasia

text: 14 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Diag at age 7;began using a wheelchair at age 6-7;wheelchair-dependent at age 8;ocular telangiectasias since age 7;chromos showed incr spontan breakage;elev serum AFP;recurrent sinusitis & vaginitis;also has Dandy-Walker syn

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: AT

characteristic: tag

text: Ataxia-telangiectasia

text: GM13941 female affected Ataxia-telangiectasia sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Epilepsy

text: 8 YR

text: B-Lymphocyte

text: NINDS Repository

text: sibling

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

text: ND24761 female affected Epilepsy sample

characteristic: title


text: Coriell

text: live

text: Generic

text: Ataxia-telangiectasia

text: 5 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Diagnosed at age 2;chromosome studies showed increased spontaneous breakage;elevated serum AFP;chronic sinus & ear infections;reduced IgA & IgG;elevated IgM

text: Homo sapiens

text: Caucasian

text: Female

text: AT

text: Ataxia-telangiectasia

text: GM13942 female affected Ataxia-telangiectasia sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Epilepsy

text: 23 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

text: ND24762 female affected Epilepsy sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Williams-beuren syndrome

text: 4 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected

characteristic: description

text: 46;XY.ish del(7)(pter>q11.23::q11.23>qter)(ELN-)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Williams-beuren syndrome

text: WBS

text: GM13943 male affected Williams-beuren syndrome sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 49 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: parent

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND24763 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Williams-beuren syndrome

text: 8 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinical description unavailable;elastin gene deletion confirmed by FISH analysis

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Williams-beuren syndrome

text: WBS

text: GM13944 male affected Williams-beuren syndrome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 53 YR

text: B-Lymphocyte

text: NINDS Repository

text: parent

text: Homo sapiens

text: More than one race

text: Male

characteristic: tag

text: ND24764 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: Williams-beuren syndrome

text: 6 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Homo sapiens

text: Caucasian

text: Male

text: Williams-beuren syndrome

text: WBS

text: GM13945 male affected Williams-beuren syndrome sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Parkinson disease

text: 55 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinson disease

text: ND24765 male affected Parkinson disease sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Williams-beuren syndrome

text: 22 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

characteristic: description

text: proband

text: 46;XY;inv(9)(pter>p11::q13>p11::q13> qter);22ps+.ish del(7)(q11.23q11.23) (ELN-)

text: Homo sapiens

text: Caucasian

text: Male

text: Williams-beuren syndrome

text: WBS

text: GM13946 male affected Williams-beuren syndrome sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Parkinson disease

text: 54 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinson disease

text: ND24766 male affected Parkinson disease sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Williams-beuren syndrome

text: 21 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: 46;XX.ish del(7)(pter>q11.23::q11.23>qter)(ELN-)

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Williams-beuren syndrome

text: WBS

text: GM13947 female affected Williams-beuren syndrome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Tourette syndrome

text: 39 YR

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Tourette syndrome

text: ND24770 male affected Tourette syndrome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Williams-beuren syndrome

text: 16 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Homo sapiens

text: Caucasian

text: Female

text: Williams-beuren syndrome

characteristic: tag

text: WBS

text: GM13948 female affected Williams-beuren syndrome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 43 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND24771 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Williams-beuren syndrome

text: 15 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Homo sapiens

text: Caucasian

text: Female

text: Williams-beuren syndrome

text: WBS

text: GM13949 female affected Williams-beuren syndrome sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Tourette syndrome

text: 10 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND24772 male affected Tourette syndrome sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Williams-beuren syndrome

text: 3 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: description

text: 46;XY.ish del(7)(q11.23q11.23)(ELN-;D7S427+)

text: Homo sapiens

text: Caucasian

text: Male

text: Williams-beuren syndrome

text: WBS

text: GM13950 male affected Williams-beuren syndrome sample


text: Coriell

text: live

text: Generic

text: 47 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: ND24774 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Williams-beuren syndrome

text: 34 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinical description unavailable;elastin gene deletion confirmed by FISH analysis

characteristic: karyotype

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Williams-beuren syndrome

text: WBS

text: GM13951 female affected Williams-beuren syndrome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 46 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: ND24775 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Williams-beuren syndrome

text: 12 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Homo sapiens

text: Caucasian

text: Male

text: Williams-beuren syndrome

characteristic: tag

text: WBS

text: GM13952 male affected Williams-beuren syndrome sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Tourette syndrome

text: 12 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND24776 male affected Tourette syndrome sample

characteristic: title


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Ataxia-telangiectasia

text: 16 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Diagnosed at age 7;began using a wheelchair at age 7;wheelchair-dependent at age 10;telangiectasias of eyes;ears;face;& arms since age 2;reduced IgE & IgG

text: Homo sapiens

text: Caucasian

text: Male

text: AT

text: Ataxia-telangiectasia

text: GM13954 male affected Ataxia-telangiectasia sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 46 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND24778 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Myoclonic epilepsy, juvenile

text: 7 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;had first seizure at age 1 week;which was associated with fever;from this point until age 3 had 1 generalized tonic-clonic seizure per month;treated with phenobarbitol;medication stopped about age 3-4;one breakthrough seizure since medication was stopped;neurological;motor;sensory and cerebellar examinations were all normal at age 6;telemetry results negative;grandmother;2 uncles;sister;and mother are also affected

characteristic: description

text: daughter

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Myoclonic epilepsy, juvenile

text: GM13955 female affected Myoclonic epilepsy, juvenile sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Tourette syndrome

text: 14 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Tourette syndrome

text: ND24779 male affected Tourette syndrome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Myoclonic epilepsy, juvenile

text: 8 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;had first generalized tonic-clonic seizure at age 1;has brief staring spells (probably absence seizures);a second generalized tonic-clonic seizure occured at age 5;on Depakote;history of headaches occuring almost daily that disappear with sleep;neurological;motor;sensory and cerebellar examinations were all normal at age 8;EEG at age 8 showed several bursts of 3/second spike and wave discharges lasting from approximately 3-6 seconds;grandmother;2 uncles;and mother are also affected

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: Myoclonic epilepsy, juvenile

text: GM13956 female affected Myoclonic epilepsy, juvenile sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 34 YR

text: B-Lymphocyte

text: NINDS Repository

text: parent

text: Homo sapiens

text: Hispanic/Latino

text: Male

text: ND24781 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Ataxia-telangiectasia

text: 8 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Diagnosed at age 14 mo;telangiectasias of eyes;ears;& neck since age 14 mo;elevated serum AFP

text: Homo sapiens

text: Caucasian

text: Male

text: AT

text: Ataxia-telangiectasia

text: GM13957 male affected Ataxia-telangiectasia sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Epilepsy

text: 1 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: proband

text: Homo sapiens

text: Other

text: Male

text: Epilepsy

text: ND24782 male affected Epilepsy sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Orofacial cleft 1 ofc1

text: 44 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Unilateral cleft lip & palate (right);no family history of cleft lip or palate;subject & wife have infertility of unknown etiology

characteristic: description

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Orofacial cleft 1 ofc1

text: GM13959 male affected Orofacial cleft 1 ofc1 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Epilepsy

text: 12 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Epilepsy

text: ND24783 female affected Epilepsy sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: AT

text: 29 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;diagnosed at age 2 yr;began using a wheelchair and wheelchair-dependent by age 15;eye telangiectasias since age 2 yr;frequent colds and pneumonia early in life;colorectal cancer at age 27;reduced IgA;affected brother died at age 3 yr;donor subject has an A>C change in intron 53 of the ATM gene (IVS53-2 A>C) resulting in the in frame skipping of exon 54 leading to a deletion of 53 codons beginning at codon 2544 (L2544del53);a second mutation was not reported

text: ATM

characteristic: gene

text: IVS53-2 A>C

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: AT

text: Ataxia-telangiectasia

text: Ataxia-telangiectasia mutated gene

text: ATM

text: GM13961 male affected AT sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Epilepsy

text: 11 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy

characteristic: tag

text: ND24785 male affected Epilepsy sample

characteristic: title


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Glucosidase acid alpha

text: 5 MO

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Pakistani;cardiomyopathy;hypotonia;failure to thrive;parents are first cousins;a deceased brother was also affected;1% of normal alpha-D-glucosidase activity;donor subject is homozygous for a missense mutation caused by a G>A transition at nucleotide 1561 in exon 11 of the GAA gene (1561G>A) which results in the substitution of lysine for glutaminc acid at codon 521 Glu521Lys (E521K);three amino acids downstream from the catalytic site of the enzyme at Asp518.

text: PAKISTANI

characteristic: ethnicity

text: GAA

text: Homo sapiens

text: Caucasian

text: Female

text: Glucosidase acid alpha

text: GAA

text: Glycogen storage disease ii

text: GM13963 female affected Glucosidase acid alpha sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 51 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: parent

text: Homo sapiens

characteristic: organism

text: Asian

text: Female

text: ND24786 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Giant platelet syndrome

text: 48 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Epistaxis;severe menorrhagia;G.I. bleeding;thrombocytopenia with giant platelets;long bleeding time;deficient platelet adhesiveness;homozygous for GP Ib-alpha mutation

characteristic: description

text: Homo sapiens

text: Black

characteristic: race

text: Female

text: Giant platelet syndrome

text: GM13964 female affected Giant platelet syndrome sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Ataxia-telangiectasia

text: 4 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Diag at age 7 mo;telangiectasias of eyes & ears at age 4;chromos show incr spon breakage;lymphos show incr sensitivity to ionizing radiation;elev serum AFP;sinus & ear infects;reduced IgE;norm IgG;elev IgM;bro is also affected

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: AT

characteristic: tag

text: Ataxia-telangiectasia

text: GM13969 female affected Ataxia-telangiectasia sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Epilepsy

text: 20 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

text: ND24787 female affected Epilepsy sample

characteristic: title


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: Ataxia-telangiectasia

text: 8 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Diagnosed at age 14 months;began using a wheelchair at age 8;telangiectasias of eyes and ears since age 2;elevated serum AFP;chromosomes show increased spontaneous breakage;lymphos show increased sensitivity to ionizing radiation;reduced IgA and IgE;elevated IgM

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: AT

text: Ataxia-telangiectasia

text: GM13970 male affected Ataxia-telangiectasia sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Tourette syndrome

text: 12 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: More than one race

text: Male

text: Tourette syndrome

text: ND24788 male affected Tourette syndrome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Ataxia-telangiectasia

text: 6 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Diagnosed at age 13 mo;eye telangiectasias since age 4;recurrent sinus & ear infections

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: AT

text: Ataxia-telangiectasia

text: GM13972 female affected Ataxia-telangiectasia sample


text: Coriell

text: live

text: Generic

text: AT

text: 16 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: AT406AIV11;donor subject is a compound heterozygote: the maternal allele of the ATM gene contains a four bp deletion at nucleotide 8876 (8876del4) at codon 2959 in exon 64 which results in a truncated protein;the paternal allele carries a G-to-T transition (GAA-TAA) at nucleotide 5932 (5932G>T) which converts the glu-1978 codon in exon 42 of the ATM gene to a nonsense codon GLU1978TER (E1978X) .

characteristic: description

text: FILIPINO

characteristic: ethnicity

text: ATM

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: AT

text: Ataxia-telangiectasia

text: Ataxia-telangiectasia mutated gene

text: ATM

text: GM13973 male affected AT sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Tourette syndrome

text: 42 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: mother

text: Homo sapiens

text: More than one race

characteristic: race

text: Female

characteristic: sex

text: Tourette syndrome

characteristic: tag

text: ND24789 female affected Tourette syndrome sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 20 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically normal;monozygotic twin sister with Cornelia De Lange syndrome is GM13977

text: twin sister

text: Homo sapiens

text: Caucasian

text: Female

text: Cornelia de lange syndrome 1

text: Monozygotic twin pairs

text: GM13976 female unaffected Cornelia de lange syndrome 1 sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Cornelia de lange syndrome 1

text: 20 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;microcephaly;low frontal hairline;synophris;penciled arched eyebrows;short nose;crescent shaped mouth;hirsutism;micromelia;short thumbs;mental retardation;clinically normal monozygotic twin sister is GM13976

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Cornelia de lange syndrome 1

text: Monozygotic twin pairs

text: GM13977 female affected Cornelia de lange syndrome 1 sample


text: Coriell

text: live

text: Generic

text: 73 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: grandmother

text: Homo sapiens

text: More than one race

text: Female

text: ND24790 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Ataxia-telangiectasia

text: 7 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Diagnosed at age 4;telangiectasias of eyes & nose since age 5;elevated serum AFP;chromosomes showed increased spontaneous breakage;recurrent colds;reduced IgA & IgM;elevated IgG

characteristic: description

text: Homo sapiens

text: Caucasian

text: Male

text: AT

text: Ataxia-telangiectasia

text: GM13984 male affected Ataxia-telangiectasia sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Tourette syndrome

text: 11 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: More than one race

characteristic: race

text: Female

text: Tourette syndrome

text: ND24791 female affected Tourette syndrome sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Orofacial cleft 1 ofc1

text: 32 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Bilat cleft lip;congen heart def (VSD);asthma;father had bilat cleft lip & congen heart disease;3 other individs in pedgr had cleft lip;1 also had cleft palate & congen heart dis;cleft palate in other 2 is unknown;maybe syndromic

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Orofacial cleft 1 ofc1

characteristic: tag

text: GM13988 male affected Orofacial cleft 1 ofc1 sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Tourette syndrome

text: 37 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: mother

text: Homo sapiens

text: More than one race

text: Female

text: Tourette syndrome

text: ND24792 female affected Tourette syndrome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Ataxia-telangiectasia

text: 8 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Palestinian;diagnosed at age 6 months;began using a wheelchair at age 8;eye telangiectasias since age 4;recurrent sinopulmonary infections;a first cousin is also affected

text: PALESTINIAN

characteristic: ethnicity

text: Homo sapiens

text: Caucasian

text: Male

text: AT

text: Ataxia-telangiectasia

text: GM13989 male affected Ataxia-telangiectasia sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 46 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: parent

text: Homo sapiens

characteristic: organism

text: African American

text: Male

text: ND24829 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 17 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;hirsutism;masculization;scoliosis;learning problems;height 149 cm (<30th %);weight 58.1 kg (50th%);head circumference 53 cm (25th%);increased hair over face and extremities;eyes unremarkable;inner canthal distance 3 cm;palpebral fissure distance 2.5 cm;ears 6 cm and unremarkable;nose unremarkable;face is unremarkable with the exception of hirsutism and masculization;high-arched palate;voice low and somewhat masculine;thorax shows secondary sexual development;hand total length is 15 cm and right third finger is 6 cm;fingernails are unremarkable;2-3 syndactyly of the toes;no increased carrying angle of the arms;joints are unremarkable;skin is soft;tone;reflexes and strength is normal;normal gait;serum testosterone 59 ng/dl (normal range for females 10-55 ng/dl).

characteristic: description

text: HISPANIC

text: 46;X;t(X;15)(Xqter>Xp22.2::15q26> 15qter;15pter>15q26::Xp22.2>Xpter).ish t(X;15)(STS-;DXS1140-;STS+;DXS1140+)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Translocated chromosome

text: GM13992 female unaffected Translocated chromosome sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Epilepsy

text: 33 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: sibling

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Epilepsy

characteristic: tag

text: ND24830 female affected Epilepsy sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Ataxia-telangiectasia

text: 12 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Diagnosed at age 5;telangiectasias of eyes and ears since age 5;lymphoblasts show increased radiosensitivity;elevated serum AFP;chronic sinusitis from ages 10 to 12;norm IgA and IgG;rearranged chromos 7 and 14;has 2 affected sibs

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: AT

text: Ataxia-telangiectasia

text: GM13995 female affected Ataxia-telangiectasia sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Epilepsy

text: 48 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

text: ND24832 female affected Epilepsy sample

characteristic: title


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Ataxia-telangiectasia

text: 15 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Diagnosed at age 14 mo;telangiectasias of eyes;ears;chest;& back since age 10;lymphoblasts show increased radiosensitivity;elevated serum AFP;normal IgA;IgG;& IgM;chromosomes 7 & 14 show rearrangements;has 2 affected sibs

text: brother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: AT

text: Ataxia-telangiectasia

text: GM13996 male affected Ataxia-telangiectasia sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 50 YR

text: B-Lymphocyte

text: NINDS Repository

text: Ash J;eastern European

characteristic: ethnicity

characteristic: family id

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND24834 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: Ataxia-telangiectasia

text: 9 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Diagnosed at age 14 mo;telangiectasias of eyes;chest;back;& ears since age 5;elevated serum AFP;recurrent sinusitis;lymphoblasts show increased radiosensitiv;normal IgA;IgE;IgG;& IgM;chromosomes 7 & 14 show rearrangements

characteristic: description

text: brother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: AT

characteristic: tag

text: Ataxia-telangiectasia

text: GM13997 male affected Ataxia-telangiectasia sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 42 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Ash.J;eastern European

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND24835 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Ataxia-telangiectasia

text: 12 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Diagnosed at age 7;began using a wheelchair at age 7.5;no longer fully ambulatory & wheelchair-dependent at age 8;eye telangiectasias since age 7;recurrent pneumonia;elevated serum AFP;reduced IgA;elevated IgG & IgM

text: Homo sapiens

text: Caucasian

text: Female

text: AT

text: Ataxia-telangiectasia

text: GM14000 female affected Ataxia-telangiectasia sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Tourette syndrome

text: 6 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND24836 male affected Tourette syndrome sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 5 WK

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Amish;donor died of a disorder clinically diagnosed as nemaline myopathy with features of troponin T1 myopathy as described in the Amish (Johnston JJ et al. Am J Hum Genet 2000;67:814-821);he was free of cholestasis;2 sibs with Byler disease and 2 sibs with nemaline myopathy

text: AMISH

characteristic: ethnicity

text: brother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Cholestasis, progressive familial intrahepatic 1

text: Nemaline myopathy 2 autosomal recessive

text: GM14001 male unaffected NEM2 sample


text: Coriell

text: live

text: Generic

text: Epilepsy

text: 11 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: More than one race

characteristic: race

text: Female

text: Epilepsy

text: ND24838 female affected Epilepsy sample


text: Coriell

text: live

text: Generic

text: 6 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Amish;clinically unaffected;2 sibs with Byler disease & 2 sibs with nemaline myopathy

characteristic: description

text: AMISH

text: sister

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

characteristic: tag

text: Nemaline myopathy 2 autosomal recessive

text: GM14002 female unaffected NEM2 sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Progressive supranuclear palsy

text: 65 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Progressive supranuclear palsy

text: ND24846 female affected Progressive supranuclear palsy sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 3 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: AMISH

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Nemaline myopathy 2 autosomal recessive

text: GM14003 female unaffected NEM2 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 83 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: ND24847 male unaffected Population/convenience control sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Orofacial cleft 1 ofc1

text: 38 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Bilateral cleft lip & cleft of hard & soft palate;paternal aunt had a spontaneous abortion that was thought to have had a cleft lip

text: Homo sapiens

text: Caucasian

text: Female

text: Orofacial cleft 1 ofc1

text: GM14005 female affected Orofacial cleft 1 ofc1 sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 49 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: ND24859 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: Cleft lip with or without cleft palate

text: 46 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Cleft lip (left) with complete cleft palate;partial kidney of unknown etiology;either related to infection or congenital defect;daughter also has partial kidney;1 cousin possibly had a cleft lip;2 cousins had congenital heart disease;but it is not present in this subject;

characteristic: description

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Cleft lip with or without cleft palate

text: Possibly syndromic

text: GM14006 male affected Cleft lip with or without cleft palate sample


text: Coriell

text: live

text: Generic

text: 50 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

characteristic: tag

text: ND24860 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: Orofacial cleft 1 ofc1

text: 44 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Bilateral cleft lip with cleft of hard & soft palate;no family history of cleft lip or palate;mother;brother;& sister had cataracts at a young age & required thick glasses

text: Homo sapiens

text: Caucasian

text: Male

text: Orofacial cleft 1 ofc1

text: GM14007 male affected Orofacial cleft 1 ofc1 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Epilepsy

text: 25 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

text: ND24867 female affected Epilepsy sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: Ataxia-telangiectasia

text: 9 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Diagnosed at age 2;began using a wheelchair at age 8;telangiectasias of eyes;neck;& back since age 5;slightly elevated serum AFP

text: Homo sapiens

text: Caucasian

text: Male

text: AT

text: Ataxia-telangiectasia

text: GM14008 male affected Ataxia-telangiectasia sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Epilepsy

text: 24 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: sibling

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy

text: ND24868 male affected Epilepsy sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Ataxia-telangiectasia

text: 5 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Diagnosed at age 5;conjunctiva telangiectasias since age 5;elevated serum AFP;chromosomes show increased spontaneous breakage;recurrent sinusitis;normal IgA;IgE;& IgM;reduced IgG

text: Homo sapiens

text: Caucasian

text: Female

text: AT

text: Ataxia-telangiectasia

text: GM14010 female affected Ataxia-telangiectasia sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 70 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Population/convenience control

text: ND24871 female unaffected Population/convenience control sample


text: Coriell

text: live

text: Generic

text: Glycogen storage disease ii

text: 30 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;adult onset;proximal muscle weakness & wasting;normal pulmonary function;muscle biopsy showed acid maltase deficiency;donor subject is a compound heterozygote: one allele has a 1 bp insertion at nucleotide 251 of the GAA gene (c.251insC);the second allele has a G>A transition at nucleotide 1195-8 (c.1195-8G>A) resulting in aberrant splicing

characteristic: description

text: GAA

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Glycogen storage disease ii

text: GM14011 female affected Glycogen storage disease ii sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Parkinson disease

text: 74 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinson disease

characteristic: tag

text: ND24872 male affected Parkinson disease sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Ataxia-telangiectasia

text: 9 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Diagnosed at age 20 mo;began using a wheelchair at age 8;conjunctiva telangiectasias since age 8;elevated serum AFP;normal IgA;IgG;& IgM

text: IRISH

characteristic: ethnicity

text: Homo sapiens

text: Caucasian

text: Female

text: AT

text: Ataxia-telangiectasia

text: GM14013 female affected Ataxia-telangiectasia sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 60 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND24880 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Ataxia-telangiectasia

text: 9 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Amer Indian/Fr Canadian/German/Swede;diagnosed at age 7;uses a walker;eye telangiectasias since birth;elev serum AFP;chromos show incr spontan breakage;recurr upper respir infects;reduced IgA & IgG;elev IgM;2nd cous also affected

characteristic: description

text: Homo sapiens

text: Other

characteristic: race

text: Female

characteristic: sex

text: AT

text: Ataxia-telangiectasia

text: GM14014 female affected Ataxia-telangiectasia sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Tourette syndrome

text: 27 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Tourette syndrome

characteristic: tag

text: ND24881 female affected Tourette syndrome sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 41 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected father of an affected child (GM14057));donor subject is heterozygous for an A>G transition at position -2 of the acceptor site of intron 1 of the GAA gene (c.-32-2A>G)

text: father

text: GAA

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Glycogen storage disease ii

text: GM14015 male unaffected Glycogen storage disease ii sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 38 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND24882 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 41 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected mother of an affected child (GM14057);donor subject is heterozygous for a 1 bp deletion at nucleotide 1827 in exon 13 of the GAA gene (c.1827delC) resulting in a stop at codon 609 Tyr609Ter (Y609X)

characteristic: family id

text: mother

text: GAA

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Glycogen storage disease ii

text: GM14016 female unaffected Glycogen storage disease ii sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Tourette syndrome

text: 7 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Tourette syndrome

text: ND24883 male affected Tourette syndrome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 42 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Amish;clinically unaffected;mother of two affected children;donor subject is heterozygous for a G-to-T transversion at nucleotide 579 (579G>T) in exon 11 of the troponin T1 (TNNT1) gene;resulting in a stop codon at amino acid 180 GLU180TER (E180X) .

characteristic: description

text: AMISH

characteristic: ethnicity

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ANM

characteristic: tag

text: Troponin t1, skeletal, slow

text: Nemaline myopathy amish type

text: GM14018 female unaffected TNNT1 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Epilepsy

text: 43 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Other

text: Male

text: Epilepsy

text: ND24884 male affected Epilepsy sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 43 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Amish;clinically unaffected;father of two affected children;donor subject is heterozygous for a G-to-T transversion at nucleotide 579 (579G>T) in exon 11 of the troponin T1 (TNNT1) gene;resulting in a stop codon at amino acid 180 GLU180TER (E180X) .

text: AMISH

text: father

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: ANM

text: Troponin t1, skeletal, slow

text: Nemaline myopathy amish type

text: GM14023 male unaffected TNNT1 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 57 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: sister

text: Homo sapiens

characteristic: organism

text: Other

text: Female

text: ND24885 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: 42 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Amish;clinically unaffected;father of four affected children;donor subject is heterozygous for a G-to-T transversion at nucleotide 579 (579G>T) in exon 11 of the troponin T1 (TNNT1) gene;resulting in a stop codon at amino acid 180 GLU180TER (E180X) .

text: AMISH

text: father

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: ANM

text: Troponin t1, skeletal, slow

text: Nemaline myopathy amish type

text: GM14025 male unaffected TNNT1 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 45 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND24886 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: 41 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Amish;clinically unaffected;mother of four affected children;donor subject is heterozygous for a G-to-T transversion at nucleotide 579 (579G>T) in exon 11 of the troponin T1 (TNNT1) gene;resulting in a stop codon at amino acid 180 GLU180TER (E180X) .

characteristic: description

text: AMISH

characteristic: ethnicity

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ANM

text: Troponin t1, skeletal, slow

text: Nemaline myopathy amish type

text: GM14026 female unaffected TNNT1 sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: Ataxia-telangiectasia

text: 11 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Diagnosed at age 12 mo;walks assisted & with a walker;telangiectasias of ears;eyes;back of knees;& neck;elevated serum AFP;2 episodes of pneumonia;sinopulmonary weakness

text: Homo sapiens

text: Caucasian

text: Male

text: AT

text: Ataxia-telangiectasia

text: GM14031 male affected Ataxia-telangiectasia sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Tourette syndrome

text: 20 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Tourette syndrome

text: ND24887 male affected Tourette syndrome sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 8 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Feeding difficulty;motor & language delay;overly friendly;short atten span;hyperacusis;anxiety;visuo-spatial problems;hyperverbal speech;good longterm memory;lng trunk;many typical facial features;neg for elastin gene del

text: 46;XX.ish 7q11.23(ELNx2)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Williams-beuren syndrome

text: WBS

text: GM14033 female affected Copy number variation (cnv) refernece panel 02 sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 55 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: ND24888 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: Ataxia-telangiectasia

text: 15 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Diagnosed at age 21 mo;wobbly walker;began using a wheelchair at age 7-8;wheelchair-dependent at age 12;eye and neck telangiectasias since age 9;elevated serum AFP;chromos show incr spontaneous breakage;reduced IgA;normal IgE;IgG;and IgM;family history of cancer: maternal side - breast and lymphoma;paternal side - prostate

characteristic: description

text: EASTERN EUROPEAN

characteristic: ethnicity

text: Homo sapiens

text: Caucasian

text: Male

text: AT

text: Ataxia-telangiectasia

text: GM14038 male affected Ataxia-telangiectasia sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 55 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

characteristic: family id

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND24889 female 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: Glycogen storage disease ii

text: 19 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;adult onset;severe muscle weakness & wasting;respiratory muscle insufficiency;muscle biopsy showed acid maltase deficiency;donor subject is a compound heterozygote: one allele has a G>A transition at nucleotide 569 of the GAA gene (c.569G>A) resulting in the substitution of histidine for arginine at codon 190 Arg190His (R190H);the second allele has a deletion extending from an 8 nucleotide long AGGGGCCG sequence starting from nucleotide 102 downstream of exon 17 to exactly the same sequence starting at nucleotide 32 downstream of exon 18 (c.2481+102_2646+31del;p.Gly828_Asn882del)

text: proband

text: GAA

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Glycogen storage disease ii

text: GM14039 male affected Glycogen storage disease ii sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Tourette syndrome

text: 12 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Tourette syndrome

characteristic: tag

text: ND24890 male affected Tourette syndrome sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 3 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Growth failure;hypothyroidism;and hyaline membrane disease present at birth;first year complicated by bronchopulmonary dysplasia;at age 14 months: growth retardation;at 31 months: growth retardation;but there was no evidence of neuromuscular delay;trisomy 2 mosaicism in amnion;chorion;and villi;upd(2)mat in skin and blood

characteristic: description

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Uniparental disomy chromosome 2

text: GM14043 male affected Copy number variation (cnv) refernece panel 02 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Epilepsy

text: 53 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: More than one race

text: Male

text: Epilepsy

text: ND24891 male affected Epilepsy sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Orofacial cleft 1 ofc1

text: 48 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Left-sided cleft lip & cleft of palate;a niece also has cleft lip & palate & a paternal cousin has cleft lip

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Orofacial cleft 1 ofc1

text: GM14049 male affected Orofacial cleft 1 ofc1 sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 59 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

characteristic: tag

text: ND24905 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Ataxia-telangiectasia

text: 8 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Diagnosed at about age 1;began using a wheelchair at age 7;eye & ear telangiectasias since age 6;elevated serum AFP;multiple hospitalizations for URI/ pneumonia/sinusitis;reduced IgA & IgG;normal IgM

text: Homo sapiens

text: Caucasian

text: Female

text: AT

text: Ataxia-telangiectasia

text: GM14051 female affected Ataxia-telangiectasia sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 60 YR

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND24908 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: Ataxia-telangiectasia

text: 4 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Diagnosed at age 3.5;eye telangiectasias since age 3.5;elevated serum AFP;reduced IgA;normal IgG & IgM

characteristic: description

text: Homo sapiens

text: Caucasian

text: Male

text: AT

text: Ataxia-telangiectasia

text: GM14053 male affected Ataxia-telangiectasia sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 54 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: ND24914 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Orofacial cleft 1 ofc1

text: 52 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Left unilat cleft lip & cleft palate;hx of keratocyst in left mandible but no spine or vertebral anomalies nor hx of skin cancer;dad had colon can at age 81;mom had skin ca at age 74;2 sisters dx with breast ca in their 50's

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Orofacial cleft 1 ofc1

text: GM14055 male affected Orofacial cleft 1 ofc1 sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 50 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: ND24915 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Glycogen storage disease ii

text: 2 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected);donor subject is a compound heterozygote: one allele has an A>G transition at position -2 of the acceptor site of intron 1 of the GAA gene (c.-32-2A>G);the second allele has a 1 bp deletion at nucleotide 1827 in exon 13 (c.1827delC) resulting in a stop at codon 609 Tyr609Ter (Y609X)

text: proband

text: GAA

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Glycogen storage disease ii

characteristic: tag

text: GM14057 male affected Glycogen storage disease ii sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Tourette syndrome

text: 16 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Tourette syndrome

text: ND24916 female affected Tourette syndrome sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Ataxia-telangiectasia

text: 8 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Diagnosed at age 5;sclerae telangiectasias since age 5;elevated serum AFP;chromos show incr spon breakage;lymphocytes show incr sensitivity to ionizing radiation;recurr ear & sinus infects;reduced IgA;slightly elev IgG & IgM

characteristic: description

text: Homo sapiens

text: Caucasian

text: Female

text: AT

text: Ataxia-telangiectasia

text: GM14058 female affected Ataxia-telangiectasia sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 45 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: ND24917 male 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

text: Generic

text: 70 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Amish;clinically unaffected mother of GM13551

text: AMISH

characteristic: ethnicity

text: maternal grandmother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Cholestasis, progressive familial intrahepatic 1

text: Nemaline myopathy 2 autosomal recessive

text: GM14059 female unaffected NEM2 sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 45 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND24918 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 69 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Amish;clinically unaffected father of GM13551

text: AMISH

text: maternal grandfather

text: Homo sapiens

text: Caucasian

text: Male

text: Nemaline myopathy 2 autosomal recessive

text: GM14060 male unaffected NEM2 sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Ataxia-telangiectasia

text: 15 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Diagnosed at age 2;began using a wheelchair at age 9;wheelchair-dependent at age 12.5;eye;cheek;and leg telangiectasias since age 5;recurrent sinus infections;similarly affected sister is GM14067

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: AT

text: Ataxia-telangiectasia

text: GM14066 female affected Ataxia-telangiectasia sample


text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 10 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Tourette syndrome

text: ND24919 female affected Tourette syndrome sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: AT

text: 17 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;diagnosed at age 2 yr;began using a wheelchair at age 7 yr;wheelchair-dependent at age 10 to 12 yr;back;cheek;and eye telangiectasias since age 7 yr;recurrent colds and ear infections;similarly affected sister is GM14066;donor subject has a 1 bp deletion at nucleotide 3802 in exon 28 of the ATM gene (3802delG) resulting in a frameshift at codon 1268 and a truncation (V1268fsX);a second mutation was not reported

text: sister

text: ATM

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: AT

text: Ataxia-telangiectasia

text: Ataxia-telangiectasia mutated gene

text: ATM

text: GM14067 female affected AT sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Epilepsy

text: 5 YR

text: B-Lymphocyte

text: NINDS Repository

text: FAMILY HISTORY OF ALZHEIMERS

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Epilepsy

characteristic: tag

text: ND24922 male affected Epilepsy sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: AT

text: 9 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: AT340AIB8;diagnosed at age 2;onset of ataxia at age 2;elevated serum AFP 37.5 (normal range is 0-8.9);no history of cancer;donor subject is a compound heterozygote: the maternal allele contains two missense mutations: a TG-to-GC transversion at nucleotide 7875 in exon 55 converting the asp-2625 codon (GAT) to an glu codon (GAG) ASP2625GLU (D2625E) and the ala-2626 codon to a pro codon ALA2626PRO (A2626P);the paternal allele carries a C-to-A transition (TCA>TAA ) at nucleotide 5771 which converts the ser-1924 codon in exon 41 of the ATM gene to a nonsense codon SER1924TER (S1924X) .

text: ATM

text: Homo sapiens

text: Caucasian

text: Male

text: AT

text: Ataxia-telangiectasia

text: Ataxia-telangiectasia mutated gene

text: ATM

text: GM14070 male affected AT sample


text: Coriell

text: live

text: Generic

text: 50 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Amish;clinically unaffected;mother of two affected children;donor subject is heterozygous for a G-to-T transversion at nucleotide 579 (579G>T) in exon 11 of the troponin T1 (TNNT1) gene;resulting in a stop codon at amino acid 180 GLU180TER (E180X) .

characteristic: description

text: AMISH

characteristic: ethnicity

characteristic: family id

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ANM

text: Troponin t1, skeletal, slow

text: Nemaline myopathy amish type

text: GM14075 female unaffected TNNT1 sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 36 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: ND24923 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: 61 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Amish;clinically unaffected;father of two affected children;donor subject is heterozygous for a G-to-T transversion at nucleotide 579 (579G>T) in exon 11 of the troponin T1 (TNNT1) gene;resulting in a stop codon at amino acid 180 GLU180TER (E180X) .

text: AMISH

text: father

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: ANM

text: Troponin t1, skeletal, slow

text: Nemaline myopathy amish type

text: GM14076 male unaffected TNNT1 sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 36 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

characteristic: tag

text: ND24924 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: Spina bifida

text: 12 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Lumbosacral myelomeningocele;similarly affected twin sister

characteristic: description

text: Homo sapiens

text: Caucasian

text: Female

text: Spina bifida

text: GM14080 female affected Spina bifida sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Epilepsy

text: 21 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Epilepsy

text: ND24932 female affected Epilepsy sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Spina bifida

text: 15 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Myelomeningocele at 14

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Spina bifida

text: GM14082 male affected Spina bifida sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Epilepsy

text: 11 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy

text: ND24933 male affected Epilepsy sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Ataxia-telangiectasia

text: 5 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Diagnosed at age 4;eye & ear telangiectasias since age 4;elevated serum AFP;recurrent infections controlled by medication;chromosomes show increased spontaneous breakage;lymphoblasts show inc sensitivity to ionizing radiation

text: ITALIAN

characteristic: ethnicity

text: Homo sapiens

text: Caucasian

text: Female

text: AT

text: Ataxia-telangiectasia

text: GM14083 female affected Ataxia-telangiectasia sample


text: Coriell

text: live

text: Generic

text: 43 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

characteristic: tag

text: ND24939 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Ataxia-telangiectasia

text: 9 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Diagnosed at age 6;began using a wheelchair at age 9;eye & ear telangiectasias since age 6;elevated serum AFP;frequent sinus infections;reduced IgA;IgE;& IgG;normal IgM

characteristic: description

text: Homo sapiens

text: Caucasian

text: Male

text: AT

text: Ataxia-telangiectasia

text: GM14085 male affected Ataxia-telangiectasia sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 40 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND24940 female 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: AT

text: 14 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: AT409AIV2;clinically affected;diagnosed at fourteen years of age;elevated serum AFP (19;normal range is 0-8.9);one allele of the ATM gene carries a G-to-A transition at nucleotide 2250 (2250G>A) at codon 709 which results in the deletion of 72 bp and the skipping of exon 16.

text: ATM

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: AT

text: Ataxia-telangiectasia

text: Ataxia-telangiectasia mutated gene

text: ATM

text: GM14087 male affected AT sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Thanatophoric dysplasia

text: 3 DA

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Lung biopsy fibroblast culture;dwarf;x-rays suggestive of thanatophoric with straight femurs;46;XX in amniocytes;a muscle biopsy fibroblast culture is GM14089

text: RUSSIAN

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Unknown type

text: Thanatophoric dysplasia

text: GM14088 female affected Thanatophoric dysplasia sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Tourette syndrome

text: 9 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Tourette syndrome

characteristic: tag

text: ND24941 male affected Tourette syndrome sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Thanatophoric dysplasia

text: 3 DA

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Muscle biopsy fibroblast culture;dwarf;x-rays suggestive of thanatophoric with straight femurs;46;XX in amniocytes;a lung biopsy fibroblast culture is GM14088

characteristic: description

text: RUSSIAN

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Unknown type

text: Thanatophoric dysplasia

text: GM14089 female affected Thanatophoric dysplasia sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 43 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Diagnosed at age 34;mother and six other relatives with breast cancer;two relatives with ovarian cancer;BRCA1 germline mutation is 185delAG in exon 3;codon 23

characteristic: gene

characteristic: karyotype

characteristic: mutation

text: 2-BP DEL

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Breast cancer type 1

text: GM14090 female affected Breast cancer information core (bic) brca1/brca2 mutation panel dna samples sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 66 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: ND24942 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: Breast cancer type 1

text: 46 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Diagnosed at age 40;mother with ovarian cancer and 2 other relatives with breast cancer;BRCA1 germline mutation is 5382insC in exon 20;codon 1755

text: 1-BP INS

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

characteristic: tag

text: Breast cancer type 1

text: GM14091 female affected Breast cancer type 1 sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Breast cancer type 1

text: 56 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Diagnosed at age 49;ovarian cancer at age 54;3 relatives with breast cancer;10 relatives with ovarian cancer;and 1 relative with fallopian tube ca;BRCA1 germline mutation is 5257T>C in exon 18 resulting in a missense mutation in codon 1713 (V1713A;Val1713Ala)

characteristic: description

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Breast cancer type 1

text: GM14092 female affected Breast cancer type 1 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Epilepsy

text: 54 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: sibling

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Epilepsy

text: ND24946 female affected Epilepsy sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Breast cancer type 1

text: 30 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Diagnosed at age 27;3 relatives with breast cancer and 1 relative with ovarian cancer;BRCA1 germline mutation is 1323delG in exon 11;the frameshift results in a stop codon at 409 (S401Xfs409)

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Black

text: Female

text: Breast cancer type 1

text: GM14093 female affected Breast cancer type 1 sample