text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 49 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: 20/70 vision;photophobia;positive family history;Deutman variant;relative scotomas in both eyes;see GM03785 Fibro

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: GM03784 male affected Macular dystrophy, retinal, 1, north carolina type sample


status: PUBLIC

characteristic: External Id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

tag: attribute

text: 49 YR

characteristic: age

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: 20/70 vision;photophobia;positive family history;Deutman variant;relative scotomas in both eyes;see GM03784 Lymph

characteristic: description

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

characteristic: tag

text: GM03785 male affected Macular dystrophy, retinal, 1, north carolina type sample

characteristic: title


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: 19 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Greek;clinically normal

text: GREEK

characteristic: ethnicity

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

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Translocated chromosome

text: GM03786 female unaffected Translocated chromosome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Huntington disease

text: 37 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Chorea;bipolar affective disorder;dementia;4 years duration

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Huntington disease

text: HD

text: GM03790 female affected Huntington disease sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 19 YR

characteristic: age

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: At risk (50%);see GM03794 Lymphoid

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Huntington disease

text: HD

text: GM03793 female unaffected Huntington disease sample


text: Coriell

text: live

text: Generic

text: 19 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: At risk (50%);see GM03793 Fibroblast

characteristic: description

characteristic: family id

text: daughter

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Huntington disease

characteristic: tag

text: HD

text: GM03794 female unaffected Huntington disease sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: 14 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: 46;XX;12% of cells show random chromosome loss/gain;sister of GM03798A

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Apparently healthy non-fetal tissue

text: GM03797 female unaffected Apparently healthy non-fetal tissue sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 10 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: 46;XY;2% of cells show random chromosome loss;brother of GM03797

text: brother

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Apparently healthy non-fetal tissue

text: GM03798 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 27 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal

text: JEWISH

characteristic: ethnicity

text: 46;XX;t(4;11)(4pter>4q34::11p11>11pter;11qter>11p11::4q34>4qter)

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Translocated chromosome

text: GM03799 female unaffected Translocated chromosome sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Chromosome deletion

text: 9 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: AGR triad;seizures;Wilms tumor;46;XY;del(11)(pter>p1400::p11.2>qter);lacks 1 copy of catalase gene

text: Homo sapiens

text: Caucasian

text: Male

text: Wilms tumor 1

text: Chromosome deletion

text: GM03808 male affected Chromosome deletion sample


text: Coriell

text: live

text: Generic

text: Wilms tumor 1

text: 2 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Aniridia;genitourinary abnormalities;and mental retardation;XX phenotype - 46;XY karyotype (X-linked familial testicular feminization);pedigree contains several females with no menses

characteristic: description

text: Homo sapiens

text: Caucasian

text: Female

text: Wilms tumor 1

text: GM03809 female affected Wilms tumor 1 sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 18 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Partial trisomy 4p;mental and developmental retardation

characteristic: family id

text: proband

text: 46;XX;der(14)(14qter>14p12::4p15>4pter)mat

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Translocated chromosome

characteristic: tag

text: GM03810 female unaffected Translocated chromosome sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 56 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;had three miscarriages and one stillborn

text: mother

text: 46;XX;t(4;14)(4qter>4p15::14p12> 14pter;14qter>14p12::4p15>4pter)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Translocated chromosome

text: GM03811 female unaffected Translocated chromosome sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: 3 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Marked muscle atrophy and weakness;similarly affected brother;donor subject has 2 copies of the SMN2 gene;PCR analysis showed that this donor subject is homozygous for the deletion of exons 7 and 8 in the SMN1 gene

text: proband

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Spinal muscular atrophy i

text: Survival of motor neuron 1, telomeric

text: GM03813 male affected SMN1 sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically normal;2 affected children;PCR analysis showed: donor subject has two copies of the SMN2;donor subject is heterozygous for deletion of exons 7 and 8 in the SMN1 gene

characteristic: description

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Spinal muscular atrophy i

text: Survival of motor neuron 1, telomeric

text: GM03814 female unaffected SMN1 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;2 affected children

characteristic: family id

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Spinal muscular atrophy i

characteristic: tag

text: GM03815 male unaffected Spinal muscular atrophy i sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: FRDA

text: 36 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;spinal-cerebral degeneration with myocardiopathy;a brother (GM04078/GM04079) is similarly affected;homozygous for the GAA expansion in the frataxin gene with alleles of approximately 330 and 380 repeats.

text: proband

text: FXN

text: (GAA)n EXPANSION

text: Homo sapiens

text: Caucasian

text: Female

text: Frataxin

text: FRDA

text: FXN

text: Friedreich ataxia 1

text: GM03816 female affected FRDA sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: 50 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Mild optic atrophy with severe pigmentary retinopathy;ring scotoma;extinguished ERG;pedigree shows dominant inheritance;see GM03824 Fibroblast

text: GERMAN

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: GM03823 male affected Retinitis pigmentosa - 180100, 268000 or 312600 sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 50 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Mild optic atrophy with severe pigmentary retinopathy;ring scotoma;extinguished ERG;pedigree shows dominant inheritance;see GM03823A Lymphoid

text: GERMAN

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: GM03824 male affected Retinitis pigmentosa - 180100, 268000 or 312600 sample


text: Coriell

text: live

text: Generic

text: 22 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Mild optic atrophy with moderate pigmentary retinopathy;pedigree shows dominant inheritance;see GM03826 Fibroblast

text: GERMAN

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: GM03825 male affected Retinitis pigmentosa - 180100, 268000 or 312600 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 22 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Mild optic atrophy with moderate pigmentary retinopathy;pedigree shows dominant inheritance;see GM03825 Lymphoid

characteristic: description

text: GERMAN

characteristic: family id

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: GM03826 male affected Retinitis pigmentosa - 180100, 268000 or 312600 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 18 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Primary ovarian failure;secondary amenorrhea;increased luteinizing and follicle stimulating hormones;right ovary biopsy;same patient as GM03828

text: proband

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Black

text: Female

text: Chromosome deletion

characteristic: tag

text: GM03827 female unaffected Chromosome deletion sample


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 18 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Primary ovarian failure;secondary amenorrhea;left ovary biopsy

text: proband

text: Homo sapiens

text: Black

text: Female

text: Chromosome deletion

text: GM03828 female unaffected Chromosome deletion sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: 56 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Fundus shows pigmentary degenerative type changes;nonrecordable ERG;ring scotomas both eyes;dominant inheritance;see GM03832 Lymphoid

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: GM03831 female affected Retinitis pigmentosa - 180100, 268000 or 312600 sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 56 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Fundus shows pigmentary degenerative type changes;nonrecordable ERG;ring scotomas both eyes;dominant inheritance;see GM03831 Fibroblast

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: GM03832 female affected Retinitis pigmentosa - 180100, 268000 or 312600 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 32 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Night blindness;subnormal ERG;pedigree shows dominant inheritance;see GM03834 Lymphoid

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: GM03833 female affected Retinitis pigmentosa - 180100, 268000 or 312600 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 32 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Night blindness;subnormal ERG;pedigree shows dominant inheritance;see GM03833 Fibroblast

characteristic: description

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: GM03834 female affected Retinitis pigmentosa - 180100, 268000 or 312600 sample


text: Coriell

text: live

text: Generic

text: 32 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Mild abnormal pigmentation;subnormal ERG;dominant inheritance;see GM03836 Lymphoid

text: daughter

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: tag

text: GM03835 female affected Retinitis pigmentosa - 180100, 268000 or 312600 sample


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: 32 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Mild abnormal pigmentation;subnormal ERG;dominant inheritance;see GM03835 Fibroblast

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: GM03836 female affected Retinitis pigmentosa - 180100, 268000 or 312600 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 12 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Poor night vision;moderately subnormal ERG;dominant inheritance;see GM03838 Lymphoid

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: GM03837 female affected Retinitis pigmentosa - 180100, 268000 or 312600 sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: 12 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Poor night vision;moderately subnormal ERG;dominant inheritance;see GM03837 Fibroblast

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: GM03838 female affected Retinitis pigmentosa - 180100, 268000 or 312600 sample


text: Coriell

text: live

text: Generic

text: 38 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;mother has same translocation;neither shows any myeloproliferative disorder

text: 46;XX;t(11;22)(11pter>11q23::22q11.2> 22qter;22pter>22q11.2::11q23>11qter)mat

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Translocated chromosome

text: GM03847 female unaffected Translocated chromosome sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 23 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Severe hernias;mild joint hypermobility;asthmatic bronchitis;eczematoid dermatitis;severe scoliosis;died from ruptured aorta;similarly affected son;possible dominant inheritance

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: GM03850 female affected Ehlers-danlos syndrome: type unclassified sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 2 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Poor vision;nystagmus;7 diopters hyperopic;similarly affected half-sister but fathers were brothers;see GM03852 Fibroblast

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: GM03851 female affected Amaurosis congenita of leber type i or ii - 204000 or 204100 sample


text: Coriell

text: live

text: Generic

text: 2 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Poor vision;nystagmus;7 diopters hyperopic;similarly affected half-sister but fathers were brothers;see GM03851 Lymphoid

characteristic: description

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: GM03852 female affected Amaurosis congenita of leber type i or ii - 204000 or 204100 sample


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: Usher syndrome type ia

text: 47 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: German;mildly affected;slow progression;brother is similarly affected;see GM03854 Fibroblast

text: GERMAN

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Usher syndrome type ia

characteristic: tag

text: GM03853 male affected Usher syndrome type ia sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Usher syndrome type ia

text: 47 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: German;mildly affected;slow progression;brother is similarly affected;see GM03853 Lymphoid;46;XY

text: GERMAN

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Usher syndrome type ia

text: GM03854 male affected Usher syndrome type ia sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Leber optic atrophy

text: 33 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Onset in mid-20's;decreased bilateral visual acuity;similarly affected brother;see GM03858 Fibro;mitochondrial DNA retains the Sfa NI restriction site which is lacking in individuals from multiple families with Leber's optic atrophy

text: JEWISH

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Leber optic atrophy

text: GM03857 male affected Leber optic atrophy sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Leber optic atrophy

text: 33 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Onset in mid-20's;decreased bilateral visual acuity;similarly affected bro;see GM03857A Lymph;lymph mitochondrial DNA retains the Sfa NI restriction site which is lacking in individuals from multiple fams with Leber optic atrophy

text: JEWISH

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Leber optic atrophy

text: GM03858 male affected Leber optic atrophy sample


text: Coriell

text: live

text: Generic

text: Alkaline phosphatase, liver

text: 1 DA

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Severe;in utero onset;deficient liver;bone;and fibroblast alkaline phosphatase activity;donor subject is a compound heterozygote for two mutations in the ALPL gene: one allele carries an arg54-to-pro mutation Arg54Pro (R54P) and a second allele carries a gln190-to-pro mutation Gln190Pro (Q190P) .

characteristic: description

text: ALPL

characteristic: gene

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Alkaline phosphatase, liver

text: ALPL

text: Hypophosphatasia, infantile

text: GM03859 female affected Alkaline phosphatase, liver sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 58 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Reduced risk for HD;had ovarian cancer at age 50;see GM03861 Lymphoid

characteristic: family id

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Huntington disease

characteristic: tag

text: HD

text: GM03860 female unaffected Huntington disease sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 58 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Reduced risk for HD;had ovarian cancer at age 50;see GM03860 Fibroblast

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Huntington disease

text: HD

text: GM03861 female unaffected Huntington disease sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 24 YR

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: At risk (50%);daughter of GM03868;see GM03863 Lymphoid

text: niece

text: Homo sapiens

text: Caucasian

text: Female

text: Huntington disease

text: HD

text: GM03862 female unaffected Huntington disease sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 24 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: At risk (50%);daughter of GM03869;see GM03862 Fibroblast

characteristic: description

text: niece

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Huntington disease

text: HD

text: GM03863 female unaffected Huntington disease sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Huntington disease

text: 51 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Similarly affected sib;see GM03865 Lymphoid

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Huntington disease

text: HD

text: GM03864 female affected Huntington disease sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Huntington disease

text: 51 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: See GM03864A Fibroblast;similarly affected sib

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Huntington disease

text: HD

text: GM03865 female affected Huntington disease sample


text: Coriell

text: live

text: Generic

text: 26 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: At risk (50%);mother had HD;see GM03867 Lymphoid

characteristic: family id

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Huntington disease

characteristic: tag

text: HD

text: GM03866 female unaffected Huntington disease sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: 26 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: At risk (50%);mother had HD;see GM03866 Fibroblast

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Huntington disease

text: HD

text: GM03867 female unaffected Huntington disease sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Huntington disease

text: 45 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: See GM03869 Lymphoid

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Huntington disease

text: HD

text: GM03868 female affected Huntington disease sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Huntington disease

text: 45 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: See GM03868 Fibroblast;clinically affected

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Huntington disease

text: HD

text: GM03869 female affected Huntington disease sample


text: Coriell

text: live

text: Generic

text: 56 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Reduced at risk;also had malignant melanoma;see GM03871 Lymphoid

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Huntington disease

text: HD

text: GM03870 female unaffected Huntington disease sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 56 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Reduced at risk;also had malignant melanoma;see GM03870A Fibroblast

characteristic: description

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Huntington disease

text: HD

text: GM03871 female unaffected Huntington disease sample


text: Coriell

text: live

text: Generic

text: 31 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: At risk (50%);see GM03873 Lymphoid

text: son

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Huntington disease

text: HD

text: GM03872 male unaffected Huntington disease sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 31 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: At risk (50%);mother had HD;see GM03872 Fibroblast

text: son

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Huntington disease

text: HD

text: GM03873 male unaffected Huntington disease sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 33 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Phenotypically normal

text: 46;XY;t(1;20)(1qter>1p13::20q13.3> 20qter;20pter>20q13.3::1p13>1pter)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Translocated chromosome

text: GM03876 male unaffected Translocated chromosome sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Pyroglutamicaciduria

text: 3 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Metabolic acidosis;hemolytic anemia;similarly affected sib;approximately 6% of control fibroblast glutathione level;4% of normal glutathione synthetase activity

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Pyroglutamicaciduria

characteristic: tag

text: GM03877 male affected Pyroglutamicaciduria sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Pyroglutamicaciduria

text: 5 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Metabolic acidosis;hemolytic anemia;fibroblasts deficient in glutathione synthetase activity

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Pyroglutamicaciduria

text: GM03878 male affected Pyroglutamicaciduria sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 30 YR

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically normal with history of miscarriages

text: 46;XX;t(3;10)(3pter>3q25::10p15>10pter;10qter>10p15::3q25>3qter)

text: Homo sapiens

text: Caucasian

text: Female

text: Translocated chromosome

text: GM03882 female unaffected Translocated chromosome sample


text: Coriell

text: live

text: Generic

text: 3 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Developmental delay;hypertelorism;brushfield spots;flat nasal bridge

characteristic: description

text: 46;XX;inv(5)(pter->q15::q33->q15::q33->qter)pat.arr 8p23.1(7270375-7791790)x1;46;XX;inv(5)(pter>q15::q33>q15::q33> qter)pat

text: Homo sapiens

text: Caucasian

text: Female

text: Inverted chromosome

text: GM03883 female unaffected Inverted chromosome sample

characteristic: title


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Translocated chromosome

text: 14 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Congenital heart murmur;bilaterally enlarged kidneys;mild hearing loss;inguinal hernias;46;X;t(X;16)(Xpter>Xq26: :16q24>16qter;16pter>16q24::Xq26>Xqter);balanced;normal X is late replicating;slow growing culture

text: 46;X;t(X;16)(Xpter->Xq26::16q24->16qter;16pter->16q24::Xq26->Xqter).arr(1-22;X)x2;46;X;t(X;16)(Xpter>Xq26::16q24>16qter;16pter>16q24::Xq26>Xqter)

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Kfm cervical vertebral fusion type ii included

text: Translocated chromosome

text: KFS

text: Klippel-feil syndrome

text: GM03884 female affected Translocated chromosome sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 22 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;has had five spontaneous first trimester abortions

text: 46;XX;t(4;9)(4pter>4q33::9q12>9qter;9pter>9q12::4q33>4qter)

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Translocated chromosome

text: GM03886 female unaffected Translocated chromosome sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: 1 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: 13q- syndrome features

text: 46;XX;del(13)(pter->q31:).arr 8p23.1(7259578-7825360)x1;13q31.1q34(80919937-114126487)x1;46;XX;del(13)(pter>q22:)

text: Homo sapiens

text: Caucasian

text: Female

text: Chromosome deletion

characteristic: tag

text: GM03887 female unaffected Chromosome deletion sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Usher syndrome type ia

text: 22 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Progressive tapetoretinal degeneration

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Usher syndrome type ia

text: GM03889 male affected Usher syndrome type ia sample


text: Coriell

text: live

text: Generic

text: Usher syndrome type ia

text: 24 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Progressive tapetoretinal degeneration;similarly affected sib;see GM03889 Fibro

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Usher syndrome type ia

text: GM03890 male affected Usher syndrome type ia sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Usher syndrome type ia

text: 16 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Progressive tapetoretinal degeneration

text: brother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Usher syndrome type ia

text: GM03891 male affected Usher syndrome type ia sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Usher syndrome type ia

text: 16 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Progressive tapetoretinal degeneration;see GM03891 Fibroblast

text: brother

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Usher syndrome type ia

text: GM03892 male affected Usher syndrome type ia sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 36 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Similarly affected father and brother;probably dominant inheritance

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: GM03893 male affected Retinitis pigmentosa - 180100, 268000 or 312600 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 36 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Similarly affected father and brother;probably dominant inheritance;see GM03893 Fibroblast

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: GM03894 male affected Retinitis pigmentosa - 180100, 268000 or 312600 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Refsum disease

text: 49 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Elevated phytanic acid in blood;fat;other body fluids;and cultured skin fibroblasts;progressive retinitis pigmentosa and peripheral neuropathy;see GM03897 Lymphoid

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Refsum disease

text: GM03896 male affected Refsum disease sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: Refsum disease

text: 48 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Elevated phytanic acid in blood;fat;other body fluids;and cultured skin fibroblasts;retinitis pigmentosa;see GM03896A Fibroblast

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Refsum disease

text: GM03897 male affected Refsum disease sample


text: Coriell

text: live

text: Generic

text: Adenomatous polyposis of the colon

text: 15 YR

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Abdominal tumor biopsy fibroblast culture;similarly affected father;14% of cells are polyploid at P8;46;XX;inv(9) (pter>p11::q13>p11::q13>qter);balanced;same patient as GM03901;donor subject has a C>T change at nucleotide 646 in exon 6 of the APC gene (646C>T) resulting in the conversion of an arginine at codon 216 to a stop codon Arg216Ter (R216X);donor subject also has a polymorphism: a C>T transition at nucleotide 2608 (2608C>T);which results in a proline 870 to serine substitution Pro870Ser (P870S)

text: proband

text: APC

characteristic: gene

text: 46;XX;inv(9)(pter>p11::q13>p11::q13> qter)

characteristic: karyotype

characteristic: mutation

text: Homo sapiens

text: Black

text: Female

text: APC

text: Adenomatous polyposis of the colon

text: GM03900 female affected Adenomatous polyposis of the colon sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Adenomatous polyposis of the colon

text: 15 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Skin biopsy fibroblast culture;similarly affected father;11% of cells are polyploid at P5;46;XX;inv(9)(pter>p11:: q13>p11::q13>qter);balanced;same patient as GM03900;donor subject has a C>T change at nucleotide 646 in exon 6 of the APC gene (646C>T) resulting in the conversion of an arginine at codon 216 to a stop codon Arg216Ter (R216X);donor subject also has a polymorphism: a C>T transition at nucleotide 2608 (2608C>T);which results in a proline 870 to serine substitution Pro870Ser (P870S)

characteristic: description

text: proband

text: APC

text: Homo sapiens

text: Black

characteristic: race

text: Female

text: APC

text: Adenomatous polyposis of the colon

text: GM03901 female affected Adenomatous polyposis of the colon sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: 2 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Ecuadorian;frequent episodes of unexplained fever;self abusive behavior;dry skin;abnormal histamine test;developmental delay;self mutilation;similarly affected brother;consanguineous parents;see GM08383 Lymphoid

text: ECUADORIAN

characteristic: ethnicity

text: brother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

characteristic: sex

characteristic: tag

text: GM03903 male affected Neuropathy, congenital sensory, with anhidrosis sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 6 YR

characteristic: age

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Ecuadorian;frequent episodes of unexplained fever;self abusive behavior;self mutilation;abnormal histamine test;dry skin;develop delay;abnormal sural nerve biopsy;similarly affected brother;consang parents;see GM08382 Lymphoid

text: ECUADORIAN

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: GM03904 male affected Neuropathy, congenital sensory, with anhidrosis sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 5 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: General tapetoretinal degeneration;pedigree suggests X-linked inheritance

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: GM03906 male affected Retinitis pigmentosa - 180100, 268000 or 312600 sample


text: Coriell

text: live

text: Generic

text: 5 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: GM03907 male affected Retinitis pigmentosa - 180100, 268000 or 312600 sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: 41 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: High myopia;constricted visual field;pedigree suggests X-linked inheritance

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: GM03910 female affected Retinitis pigmentosa - 180100, 268000 or 312600 sample


text: Coriell

text: live

text: Generic

text: 41 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: sex

text: GM03911 female affected Retinitis pigmentosa - 180100, 268000 or 312600 sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 3 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Cri-du-chat syndrome;mental retardation;HY-antigen positive in peripheral blood lymphoblasts;normal plasma testosterone and male external genitalia;lymphocytes show same karyotype as fibroblasts and both parents have normal karyotypes

text: 45;X;del(5)(qter>p14:) 45;X;der(5)t(Y;5)(5qter>5p14::Yp11.31> Ypter) by molecular analysis;45;X;der(5)t(Y;5)(5qter->5p14::Yp11.2->Ypter).arr Xp22.33q28(2713390-154887040)x1;Yp11.31p11.2(2710425-5312109)x1;5p15.33p14.1(68519-25516049)x1

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: GM03912 male unaffected Aneuploid chromosome number - non-trisomic sample


text: Coriell

text: live

text: Generic

text: Aneuploid chromosome number - trisomy

text: 2 YR

characteristic: age

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: French Canadian;absent radii and short ulnae;microphthalmia;corneal opacity;chromatid breaks and gaps;centromere splitting and puffing;46% 46;XY/ 54% 47;XY;+7;48% tetraploid at passage 13

text: FRENCH CANADIAN

characteristic: ethnicity

text: 46;XY/47;XY;+7;47;XY;+7 26 /46;XY 74

text: Homo sapiens

text: Caucasian

text: Male

text: Aneuploid chromosome number - trisomy

text: Sc phocomelia syndrome

text: GM03913 male affected Aneuploid chromosome number - trisomy sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 7 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Dysmorphic features;motor retardation;superficially resembles Seckel syndrome

characteristic: description

text: 46;XX;del(2)(pter->q31::q32->qter).arr 2q31.1q32.3(174584215-193944973)x1;46;XX;del(2)(pter>q31::q33>qter)

text: Homo sapiens

text: Caucasian

text: Female

text: Chromosome deletion

text: GM03918 female unaffected Chromosome deletion sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 25 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: English;clinically normal;1 child has same chromosome abnormality;deleted X is late replicating

text: ENGLISH

text: 46;X;del(X)(pter->q211.1::q22->qter).arr Xq21.1q22.3(78666431-106653987)x1;46;X;del(X)(pter>q13::q22>qter)

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Chromosome deletion

text: GM03923 female unaffected Chromosome deletion sample

characteristic: title


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 32 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;mother of GM03696C;wife of GM03759A Fibro (proband);no visible expansion of CTG repeat by Southern analysis

characteristic: family id

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: sex

text: Apparently healthy non-fetal tissue

text: Dystrophia myotonica 1

text: GM03928 female unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: DMD

text: 12 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;diagnosed at age 2;wheelchair bound by age 8;progressive weakness;subacute inversion of ankles;muscle weakness proximally and distally in the lower extremities with inability to move against gravity;muscle strength at +3 for pectoralis group;supraspinatus and infraspinatus;moderate weakness of biceps and triceps;nominal grip bilaterally;absent reflexes;contractures of elbows and lower extremities;muscle biopsy consistent with DMD;PCR analysis of dystrophin gene shows deletion from exon 46 through exon 50;affected brother died at age 16 and 2 male maternal cousins also affected;same donor as GM05162 (fibroblast).

text: proband

text: DMD

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Muscular dystrophy: duchenne type

characteristic: tag

text: DMD

text: Dystrophin

text: GM03929 male affected DMD sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Muscular dystrophy: limb-girdle type 2a

text: 67 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Myopathic EMG;elevated CPK;onset at age 18;slowly progressive proximal muscle weakness;impotence;deceased brother had same disorder;see GM03932 Fibroblast

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Muscular dystrophy: limb-girdle type 2a

text: GM03931 male affected Muscular dystrophy: limb-girdle type 2a sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Muscular dystrophy: limb-girdle type 2a

text: 67 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Myopathic EMG;elevated CPK;onset at age 18;slowly progressive proximal muscle weakness;impotence;deceased brother had same disorder;see GM03931B Lymphoid;46;XY

characteristic: description

text: proband

characteristic: karyotype

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Muscular dystrophy: limb-girdle type 2a

text: GM03932 male affected Muscular dystrophy: limb-girdle type 2a sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: TS

text: 16 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;adenoma sebaceum;ungual fibromas;shagreen patches;seizures;mental retardation;intracerebral calcifications;donor subject has a deletion at nucleotide 1564 in exon 14 of the TSC2 gene 1564delC resulting in a substitution of threonine for histidine at codon 522 His522Thr (H522T) and protein truncation at codon 534;polymorphisms in TSC1 include 965T>C and 1335A>G;polymorphisms in TSC2 include 3889G>A;same donor as GM03958 fibroblast.

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: sex

text: Tuberous sclerosis

text: Tsc2 gene

text: TS

text: GM03933 female affected TS sample


text: Coriell

text: live

text: Generic

text: 20 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Primary amenorrhea;underdeveloped uterus;bilateral streak ovaries;dic(X) is late replicating

text: Homo sapiens

text: Caucasian

text: Female

text: Isodicentric chromosome

characteristic: tag

text: GM03935 female unaffected Isodicentric chromosome sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 45 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: At risk;see GM03941B Lymphoid;46;XY;2% of cells show chromosome aberrations;12% of cells show random chromosome loss

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: APC

text: Adenomatous polyposis of the colon

text: GM03940 male unaffected Adenomatous polyposis of the colon sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 45 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: At risk;see GM03940 Fibroblast

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: APC

text: Adenomatous polyposis of the colon

text: GM03941 male unaffected Adenomatous polyposis of the colon sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 17 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: At risk;daughter of GM03944;see GM03943 Lymphoid;46;XX;10% of cells show random chromosome loss;4% of cells show chromosome aberrations;donor subject has a C>T change at nucleotide 1621 in exon 12 of the APC gene (1621C>T) resulting in the conversion of a glutamine at codon 541 to a stop codon Gln541Ter (Q541X)

characteristic: description

text: niece

text: APC

characteristic: gene

characteristic: karyotype

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: APC

text: Adenomatous polyposis of the colon

text: GM03942 female unaffected Adenomatous polyposis of the colon sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 17 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: At risk;child of GM03945;see GM03942 Fibroblast;donor subject has a C>T change at nucleotide 1621 in exon 12 of the APC gene (1621C>T) resulting in the conversion of a glutamine at codon 541 to a stop codon Gln541Ter (Q541X)

characteristic: family id

text: niece

text: APC

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: APC

text: Adenomatous polyposis of the colon

text: GM03943 female unaffected Adenomatous polyposis of the colon sample

characteristic: title


text: Coriell

text: live

text: Generic

text: Adenomatous polyposis of the colon

text: 38 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Cysts;polyps;ileoproctostomy;see GM03945 Lymphoid;hypersensitivity to MNNG produced loss of colony-forming ability;46;XX;8% of cells are polyploid;donor subject has a C>T change at nucleotide 1621 in exon 12 of the APC gene (1621C>T) resulting in the conversion of a glutamine at codon 541 to a stop codon Gln541Ter (Q541X)

text: sister

text: APC

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: sex

text: APC

characteristic: tag

text: Adenomatous polyposis of the colon

text: GM03944 female affected Adenomatous polyposis of the colon sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Adenomatous polyposis of the colon

text: 38 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Cysts;polyps;ileoproctostomy;see GM03944 Fibroblast;46;XX;14% of cells show random chromosome loss;6% of cells show chromosome aberrations;donor subject has a C>T change at nucleotide 1621 in exon 12 of the APC gene (1621C>T) resulting in the conversion of a glutamine at codon 541 to a stop codon Gln541Ter (Q541X)

text: sister

text: APC

text: Homo sapiens

text: Caucasian

text: Female

text: APC

text: Adenomatous polyposis of the colon

text: GM03945 female affected Adenomatous polyposis of the colon sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Adenomatous polyposis of the colon

text: 22 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: See GM03947 Lymphoid;hypersensitivity to MNNG produced loss of colony-forming ability;46;XX;10% of cells show random chromosome loss;11% are polyploid;donor subject has a C>T change at nucleotide 1621 in exon 12 of the APC gene (1621C>T) resulting in the conversion of a glutamine at codon 541 to a stop codon Gln541Ter (Q541X)

characteristic: description

text: daughter

text: APC

characteristic: gene

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: APC

text: Adenomatous polyposis of the colon

text: GM03946 female affected Adenomatous polyposis of the colon sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Adenomatous polyposis of the colon

text: 22 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: 46;XX with 18% random chromosome loss/ gain;6% of cells show chromosome aberrations;see GM03946 Fibroblast;donor subject has a C>T change at nucleotide 1621 in exon 12 of the APC gene (1621C>T) resulting in the conversion of a glutamine at codon 541 to a stop codon Gln541Ter (Q541X)

characteristic: family id

text: daughter

text: APC

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: APC

text: Adenomatous polyposis of the colon

text: GM03947 female affected Adenomatous polyposis of the colon sample


text: Coriell

text: live

text: Generic

text: Adenomatous polyposis of the colon

text: 30 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Cysts;polyps;and desmoid tumor;see GM03949 Lymphoid;? hypersensitivity to MNNG produced loss of colony-forming ability;46;XX;6% of cells show chromosome aberrations;donor subject has a C>T change at nucleotide 1621 in exon 12 of the APC gene (1621C>T) resulting in the conversion of a glutamine at codon 541 to a stop codon Gln541Ter (Q541X)

text: daughter

text: APC

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: sex

text: APC

text: Adenomatous polyposis of the colon

text: GM03948 female affected Adenomatous polyposis of the colon sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Adenomatous polyposis of the colon

text: 30 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Cysts;polyps;and desmoid tumor;see GM03948 Fibroblast;donor subject has a C>T change at nucleotide 1621 in exon 12 of the APC gene (1621C>T) resulting in the conversion of a glutamine at codon 541 to a stop codon Gln541Ter (Q541X)

text: daughter

text: APC

text: Homo sapiens

text: Caucasian

text: Female

text: APC

characteristic: tag

text: Adenomatous polyposis of the colon

text: GM03949 female affected Adenomatous polyposis of the colon sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 12 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: At risk;46;XX/46;XX;t(12;13)(12pter>12q11::13q34>13qter;13pter>13q34:: 12q11>12qter);balanced;10%/90%;see GM03951A Lymphoid;3 sibs and mother are affected;donor subject has a C>T change at nucleotide 1621 in exon 12 of the APC gene (1621C>T) resulting in the conversion of a glutamine at codon 541 to a stop codon Gln541Ter (Q541X)

characteristic: description

text: daughter

text: APC

characteristic: gene

text: 46;XX;t(12;13)(12pter>12q11:: 13q34>13qter;13pter>13q34::12q11>12qter) 90 /46;XX 10

text: Homo sapiens

text: Caucasian

text: Female

text: APC

text: Adenomatous polyposis of the colon

text: GM03950 female unaffected Adenomatous polyposis of the colon sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 12 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: At risk;see GM03950 Fibroblast;three affected sibs and mother;donor subject has a C>T change at nucleotide 1621 in exon 12 of the APC gene (1621C>T) resulting in the conversion of a glutamine at codon 541 to a stop codon Gln541Ter (Q541X)

characteristic: family id

text: daughter

text: APC

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: APC

text: Adenomatous polyposis of the colon

text: GM03951 female unaffected Adenomatous polyposis of the colon sample


text: Coriell

text: live

text: Generic

text: 20 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: At risk;unaffected parents;father is GM03940;see GM03953 Lymphoid;46;XX;2% of cells show chromosome breaks

text: niece

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: APC

text: Adenomatous polyposis of the colon

text: GM03952 female unaffected Adenomatous polyposis of the colon sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 20 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: At risk;unaffected parents;father is GM03941;see GM03952 Fibroblast

text: niece

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: APC

text: Adenomatous polyposis of the colon

text: GM03953 female unaffected Adenomatous polyposis of the colon sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: Adenomatous polyposis of the colon

text: 24 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Polyps and cysts;see GM03955 Lymphoid;normal sensitivity to MNNG produced loss of colony-forming ability;46;XY;donor subject has a C>T change at nucleotide 1621 in exon 12 of the APC gene (1621C>T) resulting in the conversion of a glutamine at codon 541 to a stop codon Gln541Ter (Q541X)

text: son

text: APC

text: Homo sapiens

text: Caucasian

text: Male

text: APC

characteristic: tag

text: Adenomatous polyposis of the colon

text: GM03954 male affected Adenomatous polyposis of the colon sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Adenomatous polyposis of the colon

text: 24 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Polyps and cysts;see GM03954 Fibroblast;donor subject has a C>T change at nucleotide 1621 in exon 12 of the APC gene (1621C>T) resulting in the conversion of a glutamine at codon 541 to a stop codon Gln541Ter (Q541X)

characteristic: description

characteristic: family id

text: son

text: APC

characteristic: gene

text: Homo sapiens

text: Caucasian

text: Male

text: APC

text: Adenomatous polyposis of the colon

text: GM03955 male affected Adenomatous polyposis of the colon sample


text: Coriell

text: live

text: Generic

text: 27 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;46;XX;4% of cells show chromosome aberrations;see GM03957 Lymphoid

text: daughter-in-law

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: APC

text: Apparently healthy non-fetal tissue

text: Adenomatous polyposis of the colon

text: GM03956 female unaffected Adenomatous polyposis of the colon sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 27 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;see GM03956 Fibro;though karyotype was normal (46;XX);telomeric instability was noted (distal 8q;distal 7p;and distal 20q had shortened telomeres)

text: daughter-in-law

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: APC

text: Apparently healthy non-fetal tissue

text: Adenomatous polyposis of the colon

text: GM03957 female unaffected Adenomatous polyposis of the colon sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: TS

text: 16 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;adenoma sebaceum;ungual fibromas;shagreen patches;seizures;mental retardation;intracerebral calcifications;donor subject has a deletion at nucleotide 1564 in exon 14 of the TSC2 gene 1564delC resulting in a substitution of threonine for histidine at codon 522 His522Thr (H522T) and protein truncation at codon 534;polymorphisms in TSC1 include 965T>C and 1335A>G;polymorphisms in TSC2 include 3889G>A;same donor as GM03933 lymphocyte.

text: proband

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Tuberous sclerosis

text: Tsc2 gene

text: TS

text: GM03958 female affected TS sample

characteristic: title


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: DMPK

text: 39 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Distal weakness;clinical and electrical (EMG) myotonia;cataracts;marked balding;see GM03987 Fibroblast;expansion of CTG repeat is <1.5 kb detectable by Southern analysis corresponding to up to 500 CTG repeats

text: brother

text: DMPK

text: (CTG)n EXPANSION

text: Homo sapiens

text: Caucasian

text: Male

text: Dystrophia myotonica protein kinase

characteristic: tag

text: DMPK

text: Dystrophia myotonica 1

text: GM03986 male affected DMPK sample


text: Coriell

text: live

text: Generic

text: DMPK

text: 39 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Distal weakness;clinical and electrical myotonia;cataracts;marked balding;see GM03986A Lymph;lymphoblast DNA studies showed expansion of CTG repeat is <1.5 kb detectable by Southern analysis corresponding to up to 500 CTG repeats

characteristic: description

characteristic: family id

text: brother

text: DMPK

characteristic: gene

text: (CTG)n EXPANSION

text: Homo sapiens

text: Caucasian

text: Male

text: Dystrophia myotonica protein kinase

text: DMPK

text: Dystrophia myotonica 1

text: GM03987 male affected DMPK sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: DMPK

text: 38 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Distal weakness;frontal baldness;cataracts;clinical and electrical (EMG) myotonia;expansion of CTG repeat greater than or equal to 4.5 kb by Southern analysis corresponding to up to 2000 CTG repeats

text: brother

text: DMPK

text: (CTG)n EXPANSION

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Dystrophia myotonica protein kinase

text: DMPK

text: Dystrophia myotonica 1

text: GM03989 male affected DMPK sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: DMPK

text: 76 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Distal weakness;cataracts;clinical and electrical myotonia;frontal baldness;see GM03991 Fibroblast;50 to 80 CTG repeats detectable by PCR;no visible expansion by Southern analysis

text: mother

text: DMPK

text: (CTG)n EXPANSION

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Dystrophia myotonica protein kinase

text: DMPK

text: Dystrophia myotonica 1

text: GM03990 female affected DMPK sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: DMPK

text: 76 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Distal weakness;cataracts;clinical and electrical (EMG) myotonia;frontal baldness;see GM03990B Lymphoid;characterization of lymphoblast DNA showed 50 to 80 CTG repeats by PCR;no visible expansion by Southern analysis

text: mother

text: DMPK

text: (CTG)n EXPANSION

text: Homo sapiens

text: Caucasian

text: Female

text: Dystrophia myotonica protein kinase

text: DMPK

text: Dystrophia myotonica 1

text: GM03991 female affected DMPK sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 11 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Mental retardation with congenital anomalies and some features of Down syndrome: brachycephaly;high arched palate;gap between first and second toes;folded ear;Brushfield spots;and abnormal teeth;150% of normal RBC superoxide dismutase activity

characteristic: description

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: GM03997 female unaffected Copy number variation (cnv) refernece panel 02 sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 63 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Hypertriglyceridemia;chylomicronemia;pancreatitis;diabetes mellitus;parents are second cousins;positive family history for Apo C-II deficiency

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: GM03998 male affected Apolipoprotein c-ii deficiency type i hyperlipoproteinemia due to sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: 1 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Multiple congenital anomalies;respiratory failure;hypotonia;both parents have normal karyotypes

text: 46;XX;del(8)(pter->q24.1::q24.2->qter).ish del(8)(VIJyRM2053+).arr 8q24.11q24.23(119059998-138865207)x1;46;XX;del(8)(pter>q24.1:);46;XX;del(8)(pter>q24.1::q24.3>qter) .ish del(8)(VIJyRM2053+)

text: Homo sapiens

text: Black

characteristic: race

text: Female

text: Chromosome deletion

text: GM03999 female unaffected Chromosome deletion sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 31 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically normal

characteristic: family id

text: mother

text: 46;XX;t(2;5)(2qter>2p25::5q33>5qter;5pter>5q33::2p25>2pter)

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Translocated chromosome

text: GM04012 female unaffected Translocated chromosome sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Huntington disease

text: 56 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Moderate to severe truncal and limb movements;mutism;diagnosed at age 49;father had HD

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Huntington disease

text: HD

text: GM04017 female affected Huntington disease sample


text: Coriell

text: live

text: Generic

text: 20 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: At risk (50%);mother had HD

characteristic: description

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Huntington disease

text: HD

text: GM04021 female unaffected Huntington disease sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 28 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: At risk (50%);mother had HD;proband is GM04017 Lymphoid;see GM04023 Lymphoid

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Huntington disease

characteristic: tag

text: HD

text: GM04022 female unaffected Huntington disease sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 28 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: At risk (50%);mother had HD;see GM04022 Fibroblast

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Huntington disease

text: HD

text: GM04023 female unaffected Huntington disease sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Fragile x mental retardation syndrome

text: 29 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Seizures;macro-orchidism;mental retardation;52% 46;fra(X)(q27);Y in leukocytes;4% in fibroblasts using FudR;G6PD type A in blood;see GM04025E Lymphoid

text: proband

text: 46;fra(X)(q27);Y 4% of cells show fra(X) with FudR

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Black

text: Male

text: Fragile x mental retardation syndrome

text: GM04024 male affected Fragile x mental retardation syndrome sample


characteristic: DNA id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Fmr1 gene

text: 29 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Macro-orchidism;mental retardation;52% 46;fra(X)(q27);Y in PBL and 4% in fibroblasts;fra(X) observed in 0 to 50% of lymphoblasts using FudR;G6PD type A in blood;see GM04024 Fibroblast;CGG repeat size of 645 in the FMR1 gene as detected by PCR (normal size range is 5-45 repeats);full mutation (fully methylated) characteristic of Fragile X syndrome.

text: proband

characteristic: gene

text: 46;fra(X)(q27);Y 0 to 50% of cells show fra(X) with FudR;46;XY

text: (CGG)n EXPANSION

characteristic: mutation

text: Homo sapiens

text: Black

characteristic: race

text: Male

text: Fmr1 gene

text: Fragile x mental retardation syndrome

text: GM04025 male affected Fmr1 gene sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Fmr1 gene

text: 35 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Macro-orchidism;mental retardation;46;fra(X)(q27);Y in PBL;2% in fibroblasts;positive family history;affected male by Southern analysis

characteristic: family id

text: proband

text: 46;fra(X)(q27);Y 2% of cells show fra(X)

text: (CGG)n EXPANSION

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Fmr1 gene

text: Fragile x mental retardation syndrome

text: GM04026 male affected Fmr1 gene sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: DMPK

text: 48 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Temporal atrophy;clinical myotonia;distal weakness;see GM04034B Lymph;proband is GM03697B Lymph;lymph DNA studies showed CTG repeat is 1.5 to 3.0 kb detectable by Southern analysis corresponding to up to 1000 CTG repeats

characteristic: description

text: father

text: DMPK

text: (CTG)n EXPANSION

text: Homo sapiens

text: Caucasian

text: Male

text: Dystrophia myotonica protein kinase

characteristic: tag

text: DMPK

text: Dystrophia myotonica 1

text: GM04033 male affected DMPK sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: DMPK

text: 48 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Temporal atrophy;clinical myotonia;distal weakness;positive family history;see GM04033 Fibroblast;expansion of CTG repeat is 1.5 to 3.0 kb detectable by Southern analysis corresponding to up to 1000 CTG repeats

text: father

text: DMPK

text: (CTG)n EXPANSION

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Dystrophia myotonica protein kinase

text: DMPK

text: Dystrophia myotonica 1

text: GM04034 male affected DMPK sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 2 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Mental retardation;facial dysmorphy;unusual dermatoglyphics;hemizygous at MN blood group locus;deletion of 4q31.1q31.3

text: GREEK

characteristic: ethnicity

text: 46;XY;t(2;4)(2pter>2q14::4q31.3>4qter;4pter>4q31.1::2q14>2qter)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Translocated chromosome

text: GM04045 male unaffected Translocated chromosome sample


text: Coriell

text: live

text: Generic

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Mother of GM00245;1 affected son;2 affected nephews;abnormal (heterozygote) metallothionein gene regulation in response to copper;fibroblasts exhibit increased accumulation of intracellular copper

characteristic: family id

text: aunt

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Menkes syndrome

text: GM04068 female unaffected Menkes syndrome sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: FRDA

text: 30 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;ataxia;cardiomyopathy;mild peripheral neuropathy;proband is GM03816;homozygous for the GAA expansion in the frataxin gene with alleles of approximately 541 and 420 repeats;see GM04079 Lymphocyte

characteristic: description

text: brother

text: FXN

characteristic: gene

text: (GAA)n EXPANSION

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Frataxin

text: FRDA

text: FXN

text: Friedreich ataxia 1

text: GM04078 male affected FRDA sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: FRDA

text: 30 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;ataxia;cardiomyopathy;mild peripheral neuropathy;proband is GM03816;homozygous for the GAA expansion in the frataxin gene with alleles of approximately 541 and 420 repeats;see GM04078 Fibroblast.

text: brother

text: FXN

text: (GAA)n EXPANSION

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Frataxin

characteristic: tag

text: FRDA

text: FXN

text: Friedreich ataxia 1

text: GM04079 male affected FRDA sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Carnitine deficiency, systemic primary

text: 2 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;hypoglycemia;hepatic dysfunction;hyperbilirubinemia;ascites;numerous episodes of sepsis;marked deficiency of carnitine in muscle;mild deficiency in liver;similarly affected fraternal twin;sequencing of the exons and flanking intron segments of the SLC22A5 (also known as OCTN2) gene found no significant mutations.

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: CDSP

text: Carnitine deficiency, systemic primary

text: GM04081 male affected Carnitine deficiency, systemic primary sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 27 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Two daughters with congenital anomalies died shortly after birth

text: 46;XX;t(1;4)(1pter>1q32::4p16>4pter;4qter>4p16::1q32>1qter)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Translocated chromosome

text: GM04088 female unaffected Translocated chromosome sample

characteristic: title


text: Coriell

text: live

text: Generic

text: DMD

text: 10 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected with Duchenne muscular dystrophy;diagnosed at age 6;calf hypertrophy;progressive muscle weakness;began walking at age one but weakness noticed by 2-3 years of age;by age 6 there was lumbar lordosis;waddling gait;shoulder girdle weakness;positive Gower's maneuver;active and symmetric deep tendon reflexes;by age 9 there was proximal muscle weakness that showed marked deterioration since previous evaluations;by age 10 there was toe walking;decreased deep tendon reflexes;proximal weakness of shoulder and hip girdles;atrophy around shoulder girdle muscles with winging of the scapula;onset of speech was delayed;cognitive evaluation revealed learning disability in the areas of language and reading;non-reader at age 10;3 maternal uncles died from progressive weakness between ages 17-23;son of GM04099;CPK over 11;000;muscle biopsy confirmed Duchenne muscular dystrophy;electromyogram showed myopathy;donor subject has a deletion of exons 49-52 in the dystrophin gene as determined by multiplex PCR

characteristic: description

characteristic: family id

text: proband

text: DMD

characteristic: gene

text: arr Xp21.1(31705284-31773234)x0

characteristic: mutation

text: Homo sapiens

text: Other

text: Male

text: Muscular dystrophy: duchenne type

text: DMD

text: Dystrophin

text: GM04100 male affected DMD sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Leopard syndrome

text: 14 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Part of original family described by Gorlin;see GM04107 Fibroblast;mother similarly affected;growth retardation;sensory neural hearing loss;mild pulmonary stenosis;abnormal EKG

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Leopard syndrome

text: GM04106 male affected Leopard syndrome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Leopard syndrome

text: 14 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Part of original family described by Gorlin;see GM04106 Lymphoid;mother is similarly affected;growth retardation;sensory neural hearing loss;mild pulmonary stenosis;abnormal EKG

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Leopard syndrome

characteristic: tag

text: GM04107 male affected Leopard syndrome sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 28 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;has one normal child;one child died and appeared to have Down's phenotype

text: 46;XX;t(4;5)(4pter>4q31.1::5p15>5pter;5qter>5p15::4q31.1>4qter);del(21)(qter> p11:)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Translocated chromosome

text: GM04111 female unaffected Translocated chromosome sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 1 DA

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Phenotypically normal;died 4 hours after birth

characteristic: description

text: 46;XY;t(15;18)(15pter>15q15::18p11.3> 18pter;18qter>18p11.3::15q15>15qter)

text: Homo sapiens

text: Caucasian

text: Male

text: Translocated chromosome

text: GM04125 male unaffected Translocated chromosome sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: 1 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: 46;XY;del(4)(qter>p1503:);this cell culture grows very slowly

text: 46;XY;del(4)(:p15.1->qter).arr 4p16.3p15.1(56706-29026537)x1;46;XY;del(4)(:p15.1>qter).ish del(4)(D4S3360-);46;XY;del(4)(qter>p15:)

text: Homo sapiens

text: Caucasian

text: Male

text: WHS

text: Wolf-hirschhorn syndrome

text: Chromosome deletion

text: GM04126 male unaffected Chromosome deletion sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 6 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Partial trisomy 3p;microcephaly;brachycephalic;cleft lip and palate

text: 46;XX;der(12)(12qter> 12p13::3p21>3pter);46;XX;der(12)(3pter->3p21::12p13->12qter).arr 3p26.3p21.31(35332-51374095)x3;12p13.33(20690-350135)x1

text: Homo sapiens

characteristic: organism

text: Black

text: Female

text: Translocated chromosome

text: GM04127 female unaffected Translocated chromosome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Wilson disease

text: 20 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Negative family history;parents both have normal ceruloplasmin levels in serum;clinically affected;fibroblasts show elevated intracellular copper concentration

text: Homo sapiens

text: Caucasian

text: Female

text: Wilson disease

text: GM04128 female affected Wilson disease sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 42 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;mother of a fetus with an unbalanced translocation

text: 46;XX;t(2;13)(2pter>2q31::13q32>13qter;13pter>13q32::2q31>2qter)

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Translocated chromosome

characteristic: tag

text: GM04139 female unaffected Translocated chromosome sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Acute lymphocytic leukemia

text: 11 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: B cell line CCRF-SB;same patient as GM04155;negative for T cell 65;000 MW glycoprotein and positive for sIg and Ia (B cell) antigen;all cells nearly tetraploid with random chromosome loss/gain;no abnormal chromosomes

characteristic: family id

text: proband

text: XY

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Acute lymphocytic leukemia

text: GM04154 male affected Acute lymphocytic leukemia sample


text: Coriell

text: live

text: Generic

text: Acute lymphocytic leukemia

text: 11 YR

characteristic: age

characteristic: cell line

text: T-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: T cell line CCRF-HSB2;same patient as GM04154B;negative for T cell 65;000 MW glycoprotein;sIg;& Ia(B cell) antigen;all cells nearly diploid with frequent chromosome loss;marker chromosome (13q-?) present in all cells

characteristic: description

text: proband

text: XY

text: Homo sapiens

text: Caucasian

text: Male

text: Acute lymphocytic leukemia

text: Lymphosarcoma

text: GM04155 male affected Acute lymphocytic leukemia sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Osteogeneis imperfecta type iia

text: 2 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Parents clinically normal;neonatal lethal form;blue sclerae;fractures of extremities;normal bone shape;similarly affected sib

text: Homo sapiens

text: Caucasian

text: Female

text: Osteogeneis imperfecta type iia

text: GM04178 female affected Osteogeneis imperfecta type iia sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Kniest dysplasia

text: 9 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Short-limbed dwarfism with tracheal papillomas;parents & 4 sibs are clinically normal;1 sib died as a premature infant

text: Homo sapiens

characteristic: organism

text: Black

text: Female

text: Kniest dysplasia

text: GM04179 female affected Kniest dysplasia sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Pterygium of conjunctiva and cornea

text: 34 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Unilateral;4 affected generations;onset at age 12;see GM04181 Lymphoid

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Pterygium of conjunctiva and cornea

text: GM04180 male affected Pterygium of conjunctiva and cornea sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Pterygium of conjunctiva and cornea

text: 34 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Unilateral;4 affected generations;onset at age 12;see GM04180 Fibroblast

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Pterygium of conjunctiva and cornea

characteristic: tag

text: GM04181 male affected Pterygium of conjunctiva and cornea sample


text: Coriell

text: live

text: Generic

text: 77 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;see GM04189 Lymphoid;proband is GM04219B Lymphoid;46;XX/46;XX;t(6;19)(6pter>6q13::19p13.3>19pter;19qter>19p13.3::6q13>6qter);78%/22%

characteristic: family id

text: spouse

text: 46;XX;t(6;19)(6pter>6q13::19p13.3> 19pter;19qter>19p13.3::6q13>6qter) 11 /46;XX 39;46;XX;t(6;19)(6pter>6q13::19p13.3>19pter;19qter>19p13.3::6q13>6qter) 8 /46;XX;t(7;22)(7qter>7p15::22q13>22qter;22pter>22q13::7p15>7pter);del(qter>12:)(p13) 4 /46;xx 38

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Huntington disease

text: Apparently healthy non-fetal tissue

text: HD

text: GM04188 female unaffected Apparently healthy non-fetal tissue sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 77 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;see GM04188 Fibro

characteristic: description

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Huntington disease

text: Apparently healthy non-fetal tissue

text: HD

text: GM04189 female unaffected Apparently healthy non-fetal tissue 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: 85 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;see GM04191 Lymphoid;mother of GM04194;04198;and 04222;46;XX;1qh+

text: sister-in-law

text: Homo sapiens

text: Caucasian

text: Female

text: Huntington disease

text: Apparently healthy non-fetal tissue

text: HD

text: GM04190 female unaffected Apparently healthy non-fetal tissue sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 85 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically normal;see GM04190 Fibroblast;mother of GM04195;04199B;& 04223

text: sister-in-law

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Huntington disease

text: Apparently healthy non-fetal tissue

text: HD

text: GM04191 female unaffected Apparently healthy non-fetal tissue sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 71 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Reduced at risk;mother had HD;see GM04193 Lymphoid

text: first cousin

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Huntington disease

characteristic: tag

text: HD

text: GM04192 male unaffected Huntington disease sample


text: Coriell

text: live

text: Generic

text: 71 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Reduced at risk;mother had HD;see GM04192 Fibroblast

characteristic: family id

text: first cousin

text: Homo sapiens

text: Caucasian

text: Male

text: Huntington disease

text: HD

text: GM04193 male unaffected Huntington disease sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Huntington disease

text: 60 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Daughter of GM04190;see GM04195 Lymphoid;father had HD

text: niece

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Huntington disease

text: HD

text: GM04194 female affected Huntington disease sample


text: Coriell

text: live

text: Generic

text: Huntington disease

text: 60 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Daughter of GM04191;see GM04194 Fibroblast;father had HD

characteristic: description

text: niece

text: Homo sapiens

text: Caucasian

text: Female

text: Huntington disease

text: HD

text: GM04195 female affected Huntington disease sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Huntington disease

text: 51 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: See GM04197A Lymphoid;affected

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Huntington disease

text: HD

text: GM04196 female affected Huntington disease sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Huntington disease

text: 51 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: See GM04196 Fibroblast;affected

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Huntington disease

text: HD

text: GM04197 female affected Huntington disease sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Huntington disease

text: 63 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Daughter of GM04190;see GM04199B Lymphoid;father had HD

text: niece

text: Homo sapiens

text: Caucasian

text: Female

text: Huntington disease

text: HD

text: GM04198 female affected Huntington disease sample


text: Coriell

text: live

text: Generic

text: Huntington disease

text: 63 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Daughter of GM04191;see GM04198 Fibroblast;father had HD

text: niece

text: Homo sapiens

text: Caucasian

text: Female

text: Huntington disease

text: HD

text: GM04199 female affected Huntington disease sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Huntington disease

text: 53 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: See GM04201A Lymphoid;affected

text: son

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Huntington disease

text: HD

text: GM04200 male affected Huntington disease sample


text: Coriell

text: live

text: Generic

text: Huntington disease

text: 53 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;see GM04200 Fibroblast

text: son

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Huntington disease

characteristic: tag

text: HD

text: GM04201 male affected Huntington disease sample


text: Coriell

text: live

text: Generic

text: 78 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Reduced at risk;father had HD;brother is GM04534

characteristic: family id

text: first cousin

text: Homo sapiens

text: Caucasian

text: Female

text: Huntington disease

text: HD

text: GM04203 female unaffected Huntington disease sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 81 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Related by marriage;clinically normal;father of GM04210;04212;& 04230;see GM04205 Lymphoid;46;XY

text: cousin-in-law

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Huntington disease

text: Apparently healthy non-fetal tissue

text: HD

text: GM04204 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 81 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Related by marriage;clinically normal;father of GM04211;04213;04231 and 04584;see GM04204 Fibroblast;wife had HD

characteristic: description

text: in-law

text: Homo sapiens

text: Caucasian

text: Male

text: Huntington disease

text: Apparently healthy non-fetal tissue

text: HD

text: GM04205 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 75 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Reduced at risk;mother had HD;see GM04207 Lymphoid

text: first cousin

text: Homo sapiens

text: Caucasian

text: Female

text: Huntington disease

text: HD

text: GM04206 female unaffected Huntington disease sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 75 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Reduced at risk;mother had HD;see GM04206 Fibroblast

text: first cousin

text: Homo sapiens

text: Caucasian

text: Female

text: Huntington disease

text: HD

text: GM04207 female unaffected Huntington disease sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Huntington disease

text: 35 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Son of GM04210;see GM04209 Lymphoid;1st cousin twice removed to proband

text: cousin

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Huntington disease

text: HD

text: GM04208 male affected Huntington disease sample


text: Institute for Genome Sciences University of MD School of Medicine

characteristic: INSDC secondary accession

text: live

text: Generic

characteristic: SRA accession

text: Escherichia coli 07798

characteristic: strain

text: Escherichia coli 7798


characteristic: INSDC center name

text: live

text: Generic

text: Escherichia coli N1

text: Escherichia coli N1


text: live

text: Generic

text: Escherichia coli EC1735

text: Escherichia coli EC1735


text: live

text: Generic

text: Escherichia coli EC1736

text: Escherichia coli EC1736


text: live

text: Generic

text: Escherichia coli EC1737

text: Escherichia coli EC1737


text: live

text: Generic

text: Escherichia coli EC1846

text: Escherichia coli EC1846


text: live

text: Generic

text: Escherichia coli EC1847

text: Escherichia coli EC1847


text: live

text: Generic

text: Escherichia coli EC1848

text: Escherichia coli EC1848


text: live

text: Generic

text: Escherichia coli EC1849

text: Escherichia coli EC1849


text: live

text: Generic

text: Escherichia coli EC1850

text: Escherichia coli EC1850


text: live

text: Generic

text: Escherichia coli EC1856

text: Escherichia coli EC1856


text: live

text: Generic

text: Escherichia coli EC1862

text: Escherichia coli EC1862


text: live

text: Generic

text: Escherichia coli EC1864

text: Escherichia coli EC1864


text: live

text: Generic

text: Escherichia coli EC1865

text: Escherichia coli EC1865


text: live

text: Generic

text: Escherichia coli EC1868

text: Escherichia coli EC1868


text: live

text: Generic

text: Escherichia coli EC1866

text: Escherichia coli EC1866


text: live

text: Generic

text: Escherichia coli EC1869

text: Escherichia coli EC1869


text: live

text: Generic

text: Escherichia coli EC1870

text: Escherichia coli EC1870


text: live

text: Generic

text: Escherichia coli NE098

text: Escherichia coli NE098


text: live

text: Generic

text: Escherichia coli 0.1288

text: Escherichia coli 0.1288


text: live

text: Generic

text: Escherichia coli 0.1304

text: Escherichia coli 0.1304


text: DOE Joint Genome Institute

text: live

text: Generic

text: Cochliobolus heterostrophus Hm338

text: Bipolaris maydis Hm338

characteristic: sample number

text: Generic sample from Cochliobolus heterostrophus Hm338


characteristic: INSDC last update

text: live

text: Generic

text: Escherichia coli FRIK523

text: Escherichia coli FRIK523


text: DOE Joint Genome Institute

text: live

text: Generic

text: Semiaquilegia adoxoides

text: Semiaquilegia adoxoides

text: Generic sample from Semiaquilegia adoxoides


text: DOE Joint Genome Institute

text: live

text: Generic

text: Botryococcus braunii Showa

text: Botryococcus braunii

text: Showa

text: Generic sample from Botryococcus braunii


text: National Institute of Advanced Industrial Science and Technology

text: live

text: Generic

text: adult

characteristic: dev-stage

text: Cimex lectularius

text: female

characteristic: sex

text: bacteriome

characteristic: tissue-type

text: Cimex lectularius female bacteriome cDNA library


text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: adult

text: Cimex lectularius

text: female

text: whole body

text: Cimex lectularius female whole body cDNA library


characteristic: External Id

text: live

text: Generic

text: adult

text: Cimex lectularius

text: male

text: bacteriome

text: Cimex lectularius male bacteriome cDNA library

characteristic: title


text: live

text: Generic

characteristic: NCBI submission package

text: adult

text: Cimex lectularius

text: female

text: mesospermalege

text: Cimex lectularius female mesospermalege cDNA library


text: Iowa State University

characteristic: INSDC first public

text: live

text: Generic

text: Total RNA was extracted from the eyes of 48 adult A. irradians individuals. A normalized cDNA library using the pAGEN-1 plasmid vector was constructed by Agencourt Bioscience Corporation (Beverly, MA).

characteristic: description

text: adult

text: E. coli

characteristic: lab-host

text: eye

characteristic: organ

text: Argopecten irradians

text: hermaphrodite

text: Adult A. irradians eye library

text: plasmid

characteristic: vector


text: Chinese Academy of Medical Sciences & Peking Union Medical College

text: live

text: Generic

text: scletotial formation

text: Polyporus umbellatus

characteristic: organism

text: scletotium, mycelium

text: Polyporus umbellatus fructose medium scletotial formation SSH library


text: DOE Joint Genome Institute

characteristic: INSDC center name

characteristic: INSDC secondary accession

text: live

text: Generic

characteristic: SRA accession

text: Wetland Surface Sediment Feb2011 Site A1 Bulk

text: soil metagenome

text: Generic sample from soil metagenome