text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: 64 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: mother

text: Homo sapiens

text: Caucasian

text: Male

text: ND21001 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


status: PUBLIC

characteristic: External Id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Dyggve-melchior-clausen disease

tag: attribute

text: 12 YR

characteristic: age

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Pakistani;parents are 1st cousins;mental retardation;mottled iliac crests;ventricular septal defect;kyphoscoliosis;short-trunk dwarfism;long extremities;46;XY in PBL

characteristic: description

text: PAKISTANI

characteristic: ethnicity

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Dyggve-melchior-clausen disease

characteristic: tag

text: GM10568 male affected Dyggve-melchior-clausen disease sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: Parkinson disease

text: 73 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: ND21002 male affected Parkinson disease sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 7 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Characteristic retinal changes;neurologic degeneration;histologic changes with curvilinear storage bodies;EM exam of nerve cells from rectal biopsy reveals the characteristic lipid storage material in the form of finger prints

text: Homo sapiens

text: Asian

text: Female

text: GM10570 female affected Ceroid lipofuscinosis, neuronal 2, late infantile type sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 75 YR

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Control

text: Population/convenience control

text: ND21003 female unaffected Control sample


text: Coriell

text: live

text: Generic

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Adeno-SV40 hybrid virus 1613 transformed GM00089 Fibroblast;untransformed fibroblast has a balanced 46;X;t(X;19)(Xpter> Xq22::19q13.3>19qter;19pter>19q13.3:: Xq22>Xqter) karyotype;71% of cells are diploid & 29% are tetraploid

text: proband

text: All cells have the t(X;19);71% of cells are diploid & 29% are tetraploid;75% have 6q+ & 50% are lacking a #13

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Translocated chromosome

text: GM10603 female unaffected Translocated chromosome sample


text: Coriell

text: live

text: Generic

text: Epilepsy

text: 14 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Epilepsy

text: ND21009 male affected Epilepsy sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 2 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: De novo translocation;floppy;slow & weak suck;& weak cry at birth;unusual cry;at 11 mo developed a seizure disorder;at 16 mo developed apnea;severe psychomotor developmental delay;no speech;questionable cri-du-chat syndr

characteristic: description

text: HISPANIC

characteristic: ethnicity

text: 46;XY;del(2)(2pter>q23::q24.2>qter);t(3;5)(3qter>3p23::5p13>5pter;5qter>5p13:: 3p23>3pter).ish t(3;5)(D5S23+;D5S23-)

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Translocated chromosome

text: Chromosome deletion

text: GM10607 male unaffected Chromosome deletion sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: Epilepsy

text: 8 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy

characteristic: tag

text: ND21010 male affected Epilepsy sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

text: Hemoglobin--beta locus

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Line LAZ-149;patient has 100% HbF;homozygous for HPFH-1;large (105Kb) deletion of beta globin gene cluster;also heterozygous for a single alpha globin gene deletion (alpha thalassemia 2)

text: Homo sapiens

text: Black

text: Female

text: Hemoglobin--beta locus

text: HBB

text: GM10610 female affected Hemoglobin--beta locus sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 41 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: parent

text: Homo sapiens

text: Caucasian

text: Female

text: ND21011 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 34 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: 5'7 tall;normal ECHO & ophthalmologic exam;no Marfan stigmata;daughter of GM10431

characteristic: description

text: sister

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: MFS

text: Marfan syndrome

text: GM10614 female unaffected Marfan syndrome sample


text: Coriell

text: live

text: Generic

text: 28 YR

text: B-Lymphocyte

text: NINDS Repository

text: Indian or Pakistani;or South Asian

characteristic: ethnicity

text: parent

text: Homo sapiens

text: Asian

characteristic: race

text: Female

characteristic: sex

text: ND21012 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: Usher syndrome type ic

text: 32 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Acadian;clinically affected;spouse and 2 children are also affected

text: ACADIAN

characteristic: family id

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Usher syndrome type ic

text: GM10618 female affected Usher syndrome type ic sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Epilepsy

text: 5 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy

characteristic: tag

text: ND21013 male affected Epilepsy sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Leber optic atrophy

text: 50 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Onset in mid-teens;rapid onset of visual loss with most of it occurring quite early;very slow progression;if any;since then;see GM10625 Fibroblast;mitochondrial DNA has the normal Sfa NI restriction site

text: JEWISH

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Leber optic atrophy

text: GM10624 male affected Leber optic atrophy sample


text: Coriell

text: live

text: Generic

text: Epilepsy

text: 19 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy

text: ND21014 male affected Epilepsy sample


text: Coriell

text: live

text: Generic

text: Leber optic atrophy

text: 50 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Onset in mid-teens;rapid onset of visual loss with most of it occurring quite early;very slow progression;if any;since then;see GM10625 Lymphoid;mitochondrial DNA has the normal Sfa NI restriction site

characteristic: description

text: JEWISH

characteristic: ethnicity

text: brother

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Leber optic atrophy

text: GM10625 male affected Leber optic atrophy sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: Epilepsy

text: 5 YR

text: B-Lymphocyte

text: NINDS Repository

text: sibling

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Epilepsy

text: ND21015 male affected Epilepsy sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 31 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: French-Canadian;clinically normal mother of an affected child;son is GM09663 Fibroblast

text: FRENCH CANADIAN

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: GM10627 female unaffected Thanatophoric dysplasia with kleeblattschaedel sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Epilepsy

text: 5 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: More than one race

text: Female

text: Epilepsy

characteristic: tag

text: ND21016 female affected Epilepsy sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Epilepsy

text: 10 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: sibling

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

text: ND21017 female affected Epilepsy sample


text: Coriell

text: live

text: Generic

text: 38 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: French-Canadian;clinically normal father of an affected child;son is GM09663 Fibroblast

text: FRENCH CANADIAN

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: GM10628 male unaffected Thanatophoric dysplasia with kleeblattschaedel sample


text: Coriell

text: live

text: Generic

text: 47 YR

text: B-Lymphocyte

text: NINDS Repository

text: parent

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: ND21018 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: D-glycericacidemia

text: 5 DA

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Hypotonia;seizures;hiccuping;apnea;expired at age 5 da;glycine levels elevated in cerebrospinal fluid;serum;& urine;46;XY in peripheral blood lymphocytes

characteristic: description

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: D-glycericacidemia

text: GM10634 male affected D-glycericacidemia sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: 43 YR

text: B-Lymphocyte

text: NINDS Repository

text: parent

text: Homo sapiens

text: Caucasian

text: Male

text: ND21019 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Abortus fibroblast culture

text: 46;XY;t(15;19)(15pter>15q13::19q13.3> 19qter;19pter>19q13.3::15q13>15qter)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Translocated chromosome

text: GM10635 male unaffected Translocated chromosome sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Epilepsy

text: 17 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: African American

text: Male

text: Epilepsy

text: ND21020 male affected Epilepsy sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 2 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Hypotonia;developmental delay;dysmorphic facies;incontinentia pigmenti type of skin lesions;mother is chromosomally & phenotypically normal

text: HISPANIC

characteristic: ethnicity

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: Duplicated chromosome

text: GM10636 female unaffected Copy number variation (cnv) reference panel sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 46 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: parent

text: Homo sapiens

text: Caucasian

text: Female

text: ND21021 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: Sjogren-larsson syndrome

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Congenital ichthyosis;mental retardation;spastic diplegia;fibroblasts have 7% of control fatty alcohol:NAD+ oxidoreductase activity using octadecanol as the substrate;similarly affected sister;donor subject is a compound heterozygote: allele 1 has a 2 bp deletion at nucleotide 1297 of the ALDH3A2 gene (1297_1298delGA) with consequent premature termination at amino acid 434 and allele 2 has a 5 bp insertion at nucleotide 1311 (1311_1312insACAAA) resulting in frameshift and premature termination at amino acid 457.

characteristic: description

characteristic: gene

characteristic: mutation

text: 5-BP INS

text: NT 1311

text: 2-BP DEL

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Sjogren-larsson syndrome

text: GM10640 female affected Sjogren-larsson syndrome sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Parkinson disease

text: 73 YR

text: B-Lymphocyte

text: NINDS Repository

text: Ash Jewish

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Parkinson disease

text: ND21027 male affected Parkinson disease sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Sjogren-larsson syndrome

text: 4 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Congenital ichthyosis;mental retardation;spastic quadriplegia;fibroblasts have 5% of control fatty alcohol:NAD+ oxidoreductase activity using octadecanol as the substrate;donor subject is homozygous for a 3 bp deletion at nucleotide 941 with a 21 bp insertion at the intron 6/exon 7 junction of the ALDH3A2 gene (941_943delCCC + ins21nt) leading to amino acid substitutions Ala314Gly (A314G) and Pro315Ala (P315A) accompanied by the addition of six amino acids;Ala-Lys-Ser-Thr-Val-Gly between the pair

text: CHILEAN

characteristic: ethnicity

text: 3-BP DEL/21-BP INS

text: Homo sapiens

text: Caucasian

text: Female

text: Sjogren-larsson syndrome

characteristic: tag

text: GM10641 female affected Sjogren-larsson syndrome sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: 68 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Ash Jewish

text: unaffected spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND21028 female unaffected Population/convenience control sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Sjogren-larsson syndrome

text: 5 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Mildly affected with congenital ichthyosis;mental retardation;& spastic diplegia of lower extremities;fibroblasts have 8% of control fatty alcohol:NAD+ oxidoreductase activity using octadecanol as substrate;donor subject is a compound heterozygote: allele 1 has a 2 bp deletion at nucleotide 1297 of the ALDH3A2 gene (1297_1298delGA) with consequent premature termination at amino acid 434 and the other allele carries an as yet unidentified mutation.

characteristic: description

characteristic: gene

characteristic: mutation

text: 2-BP DEL

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Sjogren-larsson syndrome

text: GM10642 male affected Sjogren-larsson syndrome sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

text: 41 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: father

text: Homo sapiens

text: More than one race

text: Male

characteristic: sex

text: ND21033 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 31 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;1 affected child not in Repository

text: parent

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: GM10647 male unaffected Osteochondrodysplasia, rhizomelic with callosal agenesis, thrombocytopenia, hydrocephalus and hypertension sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Tourette syndrome

text: 11 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND21035 male affected Tourette syndrome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 35 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: description

text: parent

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: GM10648 female unaffected Osteochondrodysplasia, rhizomelic with callosal agenesis, thrombocytopenia, hydrocephalus and hypertension sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Progressive supranuclear palsy

text: 62 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Progressive supranuclear palsy

text: ND21036 female affected Progressive supranuclear palsy sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 42 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;3 affected children;donor subject is heterozygous for a mutation in intron 2 of the GCDH gene (c.127+48T>C)

characteristic: family id

text: mother

text: GCDH

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Glutaricacidemia i

text: GM10650 female unaffected Glutaricacidemia i sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 68 YR

text: B-Lymphocyte

text: NINDS Repository

text: unaffected spouse

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: ND21037 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 44 YR

characteristic: age

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;3 affected children;donor subject is heterozygous for a T>C transition at nucleotide 572 in exon 6 of the GCDH gene (c.572T>C) resulting in a substitution of threonine for methionine at codon 191 Met191Thr (M191T)

text: father

text: GCDH

text: Homo sapiens

text: Caucasian

text: Male

text: Glutaricacidemia i

text: GM10652 male unaffected Glutaricacidemia i sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Epilepsy

text: 14 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: sibling

text: Homo sapiens

characteristic: organism

text: African American

text: Male

text: Epilepsy

text: ND21039 male affected Epilepsy sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Glutaricacidemia i

text: 12 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Expired at age 12;infantile onset of progressive neuromyopathy with progressive myotonia;athetosis;dystonic posturing;and inability to speak;liver shows absence of glutaryl-CoA dehydrogenase activity;2 similarly affected sibs;P2 at CCR;donor subject is is a compound heterozygote: the paternal allele has a T>C transition at nucleotide 572 in exon 6 of the GCDH gene (c.572T>C) resulting in a substitution of threonine for methionine at codon 191 Met191Thr (M191T);the maternal allele has a mutation in intron 2 (c.127+48T>C) which may or may not be pathogenic

characteristic: description

text: proband

text: GCDH

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Glutaricacidemia i

text: GM10653 female affected Glutaricacidemia i sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Parkinson disease

text: 61 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinson disease

text: ND21051 male affected Parkinson disease sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Carnitine deficiency, systemic primary

text: 2 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;episode of fasting coma and hypoglycemia at 2 years of age;approximately 4% of normal plasma carnitine concentration and no detectable leukocyte carnitine;fibroblasts show almost no detectable carnitine uptake;son of GM10666 and 10667;sequencing of the exons and flanking intron segments of the SLC22A5 (also known as OCTN2) gene found no significant mutations.

text: proband

text: Homo sapiens

text: Asiatic Indian

text: Male

characteristic: sex

text: CDSP

text: Carnitine deficiency, systemic primary

text: GM10665 male affected Carnitine deficiency, systemic primary sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Parkinson disease

text: 55 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: PD

characteristic: tag

text: Parkinson disease

text: ND21053 female affected Parkinson disease sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 37 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Indian;clinically normal;slightly below normal plasma carnitine level;fibroblasts show carnitine uptake velocities intermediate between affecteds and controls;mother of GM10665

text: mother

characteristic: gene

text: ARG296CYS AND SER486THR

characteristic: mutation

text: Homo sapiens

text: Asiatic Indian

text: Female

text: CDSP

text: Carnitine deficiency, systemic primary

text: GM10666 female unaffected Carnitine deficiency, systemic primary sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Parkinson disease

text: 59 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: ND21054 male affected Parkinson disease sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

text: 41 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Indian;clinically normal;slightly below normal plasma carnitine level;fibroblasts show carnitine uptake velocities intermediate between affecteds and controls;father of GM10665

characteristic: description

characteristic: family id

text: father

text: Homo sapiens

text: Asiatic Indian

characteristic: race

text: Male

text: CDSP

text: Carnitine deficiency, systemic primary

text: GM10667 male unaffected Carnitine deficiency, systemic primary sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: Parkinson disease

text: 52 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Parkinson disease

characteristic: tag

text: ND21057 female affected Parkinson disease sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Cowden disease

text: 19 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Fibro culture established from a thyroid adenoma nodule;46;XX;large head;fibrocystic breast with fibroadenoma;tonsilar polyps;lipoma;father has large head;tricelinoma resected from nose & multiple polyps in colon & G I tract

text: Homo sapiens

text: Caucasian

text: Female

text: CD

text: Cowden disease

text: GM10669 female affected Cowden disease sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Epilepsy

text: 9 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

text: ND21058 female affected Epilepsy sample


text: Coriell

text: live

text: Generic

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Expired at age 13;learning problems at age 5;dementia by age 10;progressive vision loss;blind at death;seizures at age 11;spasticity in last year of life;curvilinear bodies seen in pons;negative family history

text: Homo sapiens

text: Caucasian

text: Female

text: GM10672 female affected Ceroid lipofuscinosis, neuronal 2, late infantile type sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Epilepsy

text: 11 YR

text: B-Lymphocyte

text: NINDS Repository

text: sibling

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Epilepsy

text: ND21059 male affected Epilepsy sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 1 DA

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Premature birth;left congenital diaphragmatic hernia;respiratory distress syndrome;large posterior & anterior fontanel;sml;low-set;posteriorly rotated ears;high;arched palate;74% of cells are 47;XY;+iso(12p);pass 1 at CCR

characteristic: description

text: 47;XY;+i(12)(pter>p10::p10>pter) 37 /46;XY 13

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: GM10679 male unaffected Aneuploid chromosome number - non-trisomic sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Epilepsy

text: 20 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Epilepsy

text: ND21062 female affected Epilepsy sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 6 WK

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Congenital generalized hypotonia;2 affected maternal uncle;EM of biopsy showed small muscle cells with malalignment central of myofibrils;internalization of nuclei;hollow central cores;carries 2 missense mutations in MTM1 gene: Asp431Asn (D431N) and Asp433Asn (D433N)

text: proband

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Myotubular myopathy 1

characteristic: tag

text: Myotubularin

text: GM10680 male affected MTM1 sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Epilepsy

text: 11 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: sibling

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

text: ND21066 female affected Epilepsy sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 19 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically normal mother of an affected son;2 affected brothers

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Myotubular myopathy 1

text: GM10681 female unaffected Myotubular myopathy 1 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: Epilepsy

text: 17 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: sibling

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

text: ND21067 female affected Epilepsy sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Spinal muscular atrophy i

text: 6 MO

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Expired at age 6 months;marked diffuse hypotonia;respiratory distress;muscle atrophy;diagnosis confirmed by muscle biopsy;normal biotinidase level;negative family history;donor subject is homozygous for a deletion of exons 7 and 8 in the SMN1 gene and has 2 copies of the SMN2 gene

characteristic: description

characteristic: gene

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Spinal muscular atrophy i

text: GM10684 female affected Spinal muscular atrophy i sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Epilepsy

text: 45 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Epilepsy

characteristic: tag

text: ND21068 male affected Epilepsy sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Thanatophoric dysplasia

text: 22 FW

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Questionable Kleeblattschaedel;growth deficiency;short limbs;sausage-like fingers;bowed long bones;spur-like metaphyses;narrow short ribs;short flattened vertebrae with wide intervertebral disc space;expired at age 1 day;donor subject has a C>T transition at nucleotide 742 in exon 6 of the FGFR3 gene (742C>T) resulting in a substitution of cysteine for arginine at codon 248 Arg248Cys (R248C)

text: proband

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

characteristic: karyotype

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: TD

text: Thanatophoric dysplasia

text: Inverted chromosome

text: Fibroblast growth factor receptor 3

text: GM10688 male affected Thanatophoric dysplasia sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Tourette syndrome

text: 13 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND21074 male affected Tourette syndrome sample

characteristic: title


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Marfan syndrome

text: 32 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: 6'11' tall;pectus excavatum;aortic valve replacement;common aortic dissection;& aortic conduit;grossly Marfanoid;father was affected & expired at age 32;son of GM10463

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: MFS

text: Marfan syndrome

text: GM10691 male affected Marfan syndrome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 42 YR

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

characteristic: tag

text: ND21075 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Marfan syndrome

text: 13 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: At risk;striae;tall stature;scoliosis;arachnodactyly;questionable lens abnormality;normal ECHO exam

characteristic: description

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: MFS

text: Marfan syndrome

text: GM10692 female affected Marfan syndrome sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 42 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND21076 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 7 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically unaffected;normal aortic root by ECHO exam

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: MFS

text: Marfan syndrome

text: GM10693 female unaffected Marfan syndrome sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 36 YR

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND21081 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 6 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: family id

text: daughter

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: MFS

text: Marfan syndrome

text: GM10694 female unaffected Marfan syndrome sample


text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 15 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Tourette syndrome

characteristic: tag

text: ND21082 male affected Tourette syndrome sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Marfan syndrome

text: 4 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Arachnodactyly;enlarged aortic root (>95%);pectus carinatum

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: MFS

text: Marfan syndrome

text: GM10695 female affected Marfan syndrome sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 11 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: ND21083 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: Holoprosencephaly

text: 1 DA

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Median cleft lip and palate;hypotelorism;absence of corpus callosum and septum pellucidium of brain;normal male karyotype in cultured amniotic fluid cells

characteristic: description

text: Homo sapiens

text: Asian

text: Male

text: Holoprosencephaly

text: GM10709 male affected Holoprosencephaly sample


text: Coriell

text: live

text: Generic

text: 46 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND21084 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: 43 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Questionable mild muscle weakness;2 affected sons;1 affected grandson

text: maternal grandmother

text: Homo sapiens

text: Caucasian

text: Female

text: Myotubular myopathy 1

text: GM10710 female unaffected Myotubular myopathy 1 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Tourette syndrome

text: 9 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Tourette syndrome

text: ND21085 female affected Tourette syndrome sample


text: Coriell

text: live

text: Generic

text: 42 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal

characteristic: family id

text: father

text: 46;XY;t(6;15)(6pter>6q13::15p13> 15pter;15qter>15p13::6q13>6qter)

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Translocated chromosome

text: GM10716 male unaffected Translocated chromosome sample


text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 45 YR

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Tourette syndrome

characteristic: tag

text: ND21086 male affected Tourette syndrome sample


characteristic: DNA id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 9 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;partial trisomy 15p

text: proband

text: 46;XY;rec(6)(6pter>6q13::15p13::15p13::6q13> 6qter)pat

text: Homo sapiens

text: Caucasian

text: Male

text: Translocated chromosome

text: GM10717 male unaffected Translocated chromosome sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Tourette syndrome

text: 17 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Tourette syndrome

text: ND21087 female affected Tourette syndrome sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 41 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically unaffected;heterozygote level of hexosaminidase activity and slightly elevated % of hex A in leukocytes and plasma

characteristic: description

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Sandhoff disease

text: GM10718 male unaffected Sandhoff disease sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 40 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND21088 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 43 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;heterozygote level of hexosaminidase activity & slightly elevated % of hex A in leukocytes & plasma

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Sandhoff disease

text: GM10719 female unaffected Sandhoff disease sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 41 YR

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: ND21097 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: Sandhoff disease

text: 11 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Juvenile variant;at age 4 noted to be clumsy;behind in gross motor skills;and spastic;at age 7.5 showed loss of intellectual skills;weight loss;and cerebellar degeneration;8% of normal hexosaminidase activity in leukocytes and no detectable activity in plasma

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Sandhoff disease

text: GM10720 female affected Sandhoff disease sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 37 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND21099 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 32 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;spouse & 2 children are affected;wife of GM10691A

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Apparently healthy non-fetal tissue

text: MFS

text: Marfan syndrome

text: GM10729 female unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

text: Generic

text: Epilepsy

text: 9 MO

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy

text: ND21102 male affected Epilepsy sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Complex i, subunit nd4

text: 30 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Optic atrophy;bilateral central scotoma;sudden onset of blindness at age 24;mitochondrial DNA has a guanine to adenine transition at position 11778 (11778G>A) in the NADH dehydrogenase subunit 4 gene (MTND4);positive family history

characteristic: description

text: CANADIAN

characteristic: ethnicity

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Leber optic atrophy

text: Complex i, subunit nd4

text: GM10742 male affected Complex i, subunit nd4 sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: 60 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: unaffected spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Control

text: Population/convenience control

text: ND21111 male unaffected Control sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Complex i, subunit nd4

text: 53 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Optic atrophy;bilateral central scotoma;sudden onset of blindness at age 45;mitochondrial DNA has a guanine to adenine transition at position 11778 (11778G>A) in the NADH dehydrogenase subunit 4 gene (MTND4);positive family history

text: proband

text: Homo sapiens

text: Black

text: Male

characteristic: tag

text: Leber optic atrophy

text: Complex i, subunit nd4

text: GM10744 male affected Complex i, subunit nd4 sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: Progressive supranuclear palsy

text: 65 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Progressive supranuclear palsy

text: ND21118 female affected Progressive supranuclear palsy sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: Marfan syndrome

text: 26 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: 5'10 tall;slender;slight myopia;enlarged aortic root;upper to lower body segment ratio in the Marfan range;long fingers;possible bilateral lens dislocations superiorly;mitral valve prolapse

characteristic: description

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: MFS

text: Marfan syndrome

text: GM10748 female affected Marfan syndrome sample


text: Coriell

text: live

text: Generic

text: 64 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: husband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Population/convenience control

text: ND21119 male unaffected Population/convenience control sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: TD

text: 3 DA

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Severe limb shortening;rib shortening;platyspondylia;small scapulae & iliac bones;marked redundancy of skin & soft tissue;micromelia with trident hands;splaying of upper & lower extremities;macrocephaly;megalencephaly;donor subject has a C>T transition at nucleotide 742 in exon 6 of the FGFR3 gene (742C>T) resulting in a substitution of cysteine for arginine at codon 248 Arg248Cys (R248C)

text: NORTHERN EUROPEAN

characteristic: ethnicity

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: TD

text: Thanatophoric dysplasia

text: Fibroblast growth factor receptor 3

text: GM10749 male affected TD sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Tourette syndrome

text: 23 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

characteristic: tag

text: ND21122 male affected Tourette syndrome sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: 3 DA

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Skin fibroblast culture;hypoplastic nails;greatly enlarged fontanels

text: proband

text: 47;XX;t(4;9)(4pter>4q31.3::9q13> 9qter;9pter>9q13::4q31.3>4qter)mat;+der(9)(9pter>9q13::4q31.3>4qter)mat

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Translocated chromosome

text: GM10793 female unaffected Translocated chromosome sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: 38 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: ND21124 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 3 DA

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Lung fibroblast culture;hypoplastic nails;greatly enlarged fontanels

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Translocated chromosome

text: GM10794 female unaffected Translocated chromosome sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Tourette syndrome

text: 11 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND21125 male affected Tourette syndrome sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Hemoglobin--alpha locus 1

text: 22 FW

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Filipino;skin biopsy;hydrops fetalis;ambiguous genitalia;46;XY in cultured amniotic fluid cells;alpha-1 thalassemia;mother;GM10798;has total Filipino del;father;GM10799;has Southeast Asian double alpha del;child is ----Tot/--SEA

text: FILIPINO

characteristic: ethnicity

text: proband

characteristic: gene

text: SEA Type Deletion

characteristic: mutation

text: Fil Type Deletion

text: Homo sapiens

text: Asian

text: Hemoglobin--alpha locus 1

characteristic: tag

text: GM10796 unknown affected Hemoglobin--alpha locus 1 sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 42 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND21126 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: Hemoglobin--alpha locus 1

text: 22 FW

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Filipino;muscle biopsy;hydrops fetalis;ambiguous genitalia;46;XY in cultured amniotic fluid cells;alpha-1 thalassemia;mother;GM10798;has total Filipino del;father;GM10799 has Southeast Asian double alpha del;child is ----Tot/--SEA

text: FILIPINO

characteristic: family id

text: proband

text: SEA Type Deletion

text: Fil Type Deletion

text: Homo sapiens

characteristic: organism

text: Asian

characteristic: race

text: Hemoglobin--alpha locus 1

text: GM10797 unknown affected Hemoglobin--alpha locus 1 sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 41 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: ND21127 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 26 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Filipino;fetus (GM10796 and 10797 Fibroblast) with hydrops fetalis;microcytic anemia;alpha-1 thalassemia heterozygote;has the total Filipino deletion (----Tot/alpha alpha)

characteristic: description

text: FILIPINO

characteristic: ethnicity

text: mother

characteristic: gene

text: Fil Type Deletion

text: Homo sapiens

text: Asian

text: Female

text: Hemoglobin--alpha locus 1

text: GM10798 female unaffected Hemoglobin--alpha locus 1 sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Tourette syndrome

text: 8 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

characteristic: tag

text: ND21128 male affected Tourette syndrome sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: 26 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Filipino;fetus (GM10796 and 10797 Fibroblast) with hydrops fetalis;asymptomatic;alpha-1 thalassemia heterozygote (----SEA/alpha alpha)

text: FILIPINO

text: father

text: SEA Type Deletion

characteristic: mutation

text: Homo sapiens

text: Asian

text: Male

text: Hemoglobin--alpha locus 1

text: GM10799 male unaffected Hemoglobin--alpha locus 1 sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Tourette syndrome

text: 51 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Tourette syndrome

text: ND21132 female affected Tourette syndrome sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 2 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Hypotonia;large ant fontanel;hypertelorism;sml palpebral fissures & upslanting eyes;micrognath;flat nasal bridge;short;malformed philtrum;slght incrsd palatal arch;ear asym;hypoplastic nipples;broad thumbs;sm hyperconvex nails

characteristic: description

text: 46;XY;del(4)(pter->q13.2::q22->qter).arr 4q13.2q22.2(70096438-95297116)x1;46;XY;del(4)(pter>q21.3::q25>qter)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Copy number variation (cnv) reference panel

text: Chromosome deletion

text: GM10800 male unaffected Chromosome deletion sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Tourette syndrome

text: 16 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

characteristic: tag

text: ND21133 male affected Tourette syndrome sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: 20 FW

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Muscle fibroblast culture;mother with balanced translocation is GM10916 Lymphoid;46;XX;der(3)t(2;3)(3qter>3p25:: 2q35>2qter)mat

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Translocated chromosome

text: GM10804 female unaffected Translocated chromosome sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 68 YR

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND21143 female unaffected Population/convenience control sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 20 FW

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Thymus fibroblast culture;mother with balanced translocation is GM109016 Lymphoid;46;XX;der(3)t(2;3)(3qter>3p25:: 2q35>2qter)mat

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Translocated chromosome

text: GM10806 female unaffected Translocated chromosome sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Epilepsy

text: 9 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: More than one race

characteristic: race

text: Female

text: Epilepsy

text: ND21148 female affected Epilepsy sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: Adenine phosphoribosyltransferase

text: 19 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Japanese;type II APRT deficiency;2;8dihydroxyadenine urolithiasis with homozygosity for a mutant form of APRT;approximately 66% of normal APRT activity in lymphoid culture

characteristic: description

text: JAPANESE

characteristic: ethnicity

text: Homo sapiens

text: Asian

text: Male

characteristic: sex

text: Aprt 2,8-dihydroxyadenine urolithiasis included

text: Adenine phosphoribosyltransferase

text: GM10807 male affected Adenine phosphoribosyltransferase sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Progressive supranuclear palsy

text: 76 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Progressive supranuclear palsy

characteristic: tag

text: ND21158 male affected Progressive supranuclear palsy sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: Adenine phosphoribosyltransferase

text: 16 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Japanese;type II APRT deficiency;2;8dihydroxyadenine urolithiasis with 1 Japanese type and 1 null allele at the APRT locus;approximately 26% of APRT activity in lymphoid culture

text: JAPANESE

text: Homo sapiens

text: Asian

text: Male

text: Adenine phosphoribosyltransferase

text: GM10808 male affected Adenine phosphoribosyltransferase sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 78 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND21159 female unaffected Population/convenience control sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Adenine phosphoribosyltransferase

text: 16 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Japanese;type II APRT deficiency;2;8dihydroxyadenine urolithiasis with homozygosity for a mutant form of APRT;approximately 75% of normal APRT activity in lymphoid culture

text: JAPANESE

text: Homo sapiens

characteristic: organism

text: Asian

characteristic: race

text: Female

text: Adenine phosphoribosyltransferase

text: GM10809 female affected Adenine phosphoribosyltransferase sample


text: Coriell

text: live

text: Generic

text: 45 YR

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: ND21160 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Adenine phosphoribosyltransferase

text: 50 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Japanese;type II APRT deficiency;2;8dihydroxyadenine urolithiasis with homozygosity for a mutant form of APRT;approximately 25% of normal APRT activity in lymphoid culture

characteristic: description

text: JAPANESE

characteristic: ethnicity

text: Homo sapiens

text: Asian

text: Male

text: Adenine phosphoribosyltransferase

text: GM10810 male affected Adenine phosphoribosyltransferase sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 44 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND21161 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: Adenine phosphoribosyltransferase

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Japanese;type II APRT deficiency;2;8dihydroxyadenine urolithiasis with homozygosity for a mutant form of APRT;approximately 51% of normal APRT activity in lymphoid culture

text: JAPANESE

text: Homo sapiens

text: Asian

text: Male

text: Adenine phosphoribosyltransferase

text: GM10811 male affected Adenine phosphoribosyltransferase sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Tourette syndrome

text: 16 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Tourette syndrome

text: ND21162 female affected Tourette syndrome sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Adenine phosphoribosyltransferase

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: JAPANESE

text: Homo sapiens

characteristic: organism

text: Asian

text: Female

text: Adenine phosphoribosyltransferase

text: GM10812 female affected Adenine phosphoribosyltransferase sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 85 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: ND21164 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Adenine phosphoribosyltransferase

text: 50 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Type I APRT deficiency;2;8-dihydroxyadenine urolithiasis;treated with allopurinol;no detectable APRT activity in RBC

characteristic: description

text: Homo sapiens

text: Caucasian

text: Female

text: Aprt 2,8-dihydroxyadenine urolithiasis included

text: Adenine phosphoribosyltransferase

text: GM10816 female affected Adenine phosphoribosyltransferase sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 56 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Parkinson disease

characteristic: tag

text: ND21172 female affected Parkinson disease sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: Adenine phosphoribosyltransferase

text: 4 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Type I APRT deficiency;2;8-dihydroxyadenine urolithiasis;onset at age 9 mo;hyperlaxity of joints & muscular hypotonia;treated with allopurinol;< 1% of normal APRT activity in lymphoid culture & RBC;slow growing culture

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Adenine phosphoribosyltransferase

text: GM10818 male affected Adenine phosphoribosyltransferase sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 53 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: ND21173 male unaffected Population/convenience control sample


characteristic: DNA id

text: Coriell

characteristic: INSDC secondary accession

text: live

text: Generic

characteristic: SRA accession

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Father

text: UTAH/MORMON

characteristic: ethnicity

characteristic: family id

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Human variation panel - european caucasian panel of 8

text: Cytochrome p450, subfamily iic, polypeptide 19

text: International hapmap project - ceph utah residents with ancestry from northern and western europe

text: Human variation panel - european caucasian panel of 24

text: Ceph/utah pedigree 1408

text: International hapmap project - ceph (plate i) utah residents with ancestry from northern and western europe

text: GM10830 male unaffected Human variation panel - european caucasian panel of 16 sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Mother

text: UTAH/MORMON

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Snp500 panel

text: Human variation panel - european caucasian panel of 16

text: Ceph/utah pedigree 1408

text: GM10831 female unaffected Cytochrome p450, subfamily iic, polypeptide 9 sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Parkinson disease

text: 63 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: PD

characteristic: tag

text: Parkinson disease

text: ND21178 female affected Parkinson disease sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Father

characteristic: description

text: UTAH/MORMON

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Snp500 panel

text: Ceph/utah pedigree 1413

text: GM10832 male unaffected Ceph/utah pedigree 1413 sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Mother

text: UTAH/MORMON

characteristic: ethnicity

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Snp500 panel

text: Ceph/utah pedigree 1413

text: GM10833 female unaffected Ceph/utah pedigree 1413 sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: Epilepsy

text: 19 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Other

text: Male

text: Epilepsy

text: ND21188 male affected Epilepsy sample


text: Coriell

text: live

text: Generic

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Mother

text: UTAH/MORMON

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Ceph/utah pedigree 1416

text: GM10834 female unaffected Ceph/utah pedigree 1416 sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 45 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: parent

text: Homo sapiens

text: Hispanic/Latino

text: Male

characteristic: sex

text: ND21189 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

characteristic: INSDC secondary accession

text: live

text: Generic

characteristic: NCBI submission package

characteristic: SRA accession

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Father. This cell line may be monoclonal as indicated by the very high proportion of IgL lambda (98%) compared to total lgL expression determined by cDNA microarray (see PMID: 14583597)

text: UTAH/MORMON

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 1416

characteristic: tag

text: GM10835 male unaffected International hapmap project - ceph (plate i) utah residents with ancestry from northern and western europe sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: 42 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: parent

text: Homo sapiens

text: Hispanic/Latino

text: Female

text: ND21190 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Mother

characteristic: description

text: UTAH/MORMON

characteristic: ethnicity

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: International hapmap project - ceph (plate ii) utah residents with ancestry from northern and western europe

text: Ceph/utah pedigree 1418

text: GM10836 female unaffected Ceph/utah pedigree 1418 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Tourette syndrome

text: 22 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Tourette syndrome

text: ND21191 male affected Tourette syndrome sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

characteristic: INSDC secondary accession

text: live

text: Generic

characteristic: NCBI submission package

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Father

text: UTAH/MORMON

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: International hapmap project - ceph utah residents with ancestry from northern and western europe

text: Ceph/utah pedigree 1418

text: GM10837 male unaffected Ceph/utah pedigree 1418 sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: 56 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND21192 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: SRA accession

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Father

characteristic: description

text: UTAH/MORMON

characteristic: ethnicity

characteristic: family id

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Cytochrome p450, subfamily iic, polypeptide 19

text: Ceph/utah pedigree 1420

text: GM10838 male unaffected International hapmap project - ceph (plate i) utah residents with ancestry from northern and western europe sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Tourette syndrome

text: 26 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Tourette syndrome

text: ND21194 female affected Tourette syndrome sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Mother. This cell line may be monoclonal as indicated by the very high proportion of IgL lambda (96%) compared to total lgL expression determined by cDNA microarray (see PMID: 14583597);donor subject is heterozygous for an A>C change at nucleotide 1061 (1061A>C) in exon 7 of the CYP2C9 gene (CYP2C9*3) which results in a substitution of leucine for isoleucine at codon 359 Ile359Leu (I359L)

text: UTAH/MORMON

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Cytochrome p450

text: Polypeptide 9

text: Ceph/utah pedigree 1420

text: Subfamily iic

text: International hapmap project - ceph (plate i) utah residents with ancestry from northern and western europe

text: GM10839 female unaffected Cytochrome p450 sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: 30 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: ND21203 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC secondary accession

text: live

text: Generic

characteristic: SRA accession

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Mother

characteristic: description

text: UTAH/MORMON

characteristic: ethnicity

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/utah pedigree 1421

text: GM10840 female unaffected Ceph/utah pedigree 1421 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 29 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: ND21204 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Father

text: UTAH/MORMON

text: father

characteristic: gene

characteristic: mutation

text: ARG296CYS AND SER486THR

text: G>A

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Ceph/utah pedigree 1421

text: GM10841 male unaffected Ceph/utah pedigree 1421 sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: Tourette syndrome

text: 13 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Tourette syndrome

characteristic: tag

text: ND21205 female affected Tourette syndrome sample


characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC secondary accession

text: live

text: Generic

characteristic: NCBI submission model

characteristic: SRA accession

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Father;the number of TA repeats in the UGT1A1 gene are 7 and 7

characteristic: description

text: UTAH/MORMON

characteristic: ethnicity

text: father

text: 7 TA Repeats

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 1423

text: Human variation panel - european caucasian panel of 24

text: International hapmap project - ceph (plate ii) utah residents with ancestry from northern and western europe

text: Human variation panel - european caucasian panel of 16

text: Udp-glycosyltransferase 1 family, polypeptide a1

text: GM10842 male unaffected Human variation panel - european caucasian panel of 8 sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: 42 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: family id

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: ND21206 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Mother;the number of TA repeats in the UGT1A1 gene are 6 and 7

text: UTAH/MORMON

text: mother

characteristic: gene

text: 6 TA Repeats

characteristic: mutation

text: 7 TA Repeats

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: International hapmap project - ceph utah residents with ancestry from northern and western europe

text: Ceph/utah pedigree 1423

text: GM10843 female unaffected International hapmap project - ceph (plate ii) utah residents with ancestry from northern and western europe sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 65 YR

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

characteristic: tag

text: ND21207 female unaffected Population/convenience control sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Mother. This cell line may be monoclonal as indicated by the very high proportion of IgL kappa (96%) compared to total lgL expression determined by cDNA microarray (see PMID: 14583597);the number of TA repeats in the UGT1A1 gene are 6 and 6

characteristic: description

text: UTAH/MORMON

characteristic: ethnicity

text: mother

text: 6 TA Repeats

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/utah pedigree 1424

text: GM10844 female unaffected Udp-glycosyltransferase 1 family, polypeptide a1 sample


text: Coriell

text: live

text: Generic

text: Epilepsy

text: 31 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Epilepsy

text: ND21212 male affected Epilepsy sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC secondary accession

text: live

characteristic: INSDC status

text: Generic

characteristic: SRA accession

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Father

text: UTAH/MORMON

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 1424

text: GM10845 male unaffected Human variation panel - european caucasian panel of 8 sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

text: Parkinson disease

text: 54 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Parkinson disease

characteristic: tag

text: ND21213 female affected Parkinson disease sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Father

characteristic: description

text: UTAH/MORMON

characteristic: ethnicity

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Cytochrome p450, subfamily iic, polypeptide 19

text: Ceph/utah pedigree 1334

text: GM10846 male unaffected International hapmap project - ceph (plate i) utah residents with ancestry from northern and western europe sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 70 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: Control

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: ND21216 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: Coriell plate

characteristic: DNA id

characteristic: HapMap sample ID

text: Coriell

characteristic: INSDC secondary accession

text: live

characteristic: INSDC status

text: Generic

text: Utah Residents (CEPH) with Northern and Western European ancestry

characteristic: Population Description

characteristic: SRA accession

text: EUR

characteristic: Super Population Code

text: European

characteristic: Super Population Description

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

characteristic: culture collection

text: Mother

text: UTAH/MORMON

text: mother

text: Homo sapiens

text: CEU

characteristic: population

text: Caucasian

text: female

text: International hapmap project - ceph (plate i) utah residents with ancestry from northern and western europe

text: Coriell GM10847


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 27 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: child

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

characteristic: tag

text: ND21219 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: DNA id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Father

characteristic: description

text: UTAH/MORMON

characteristic: ethnicity

characteristic: family id

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Human variation panel - european caucasian panel of 24

text: Human variation panel - european caucasian panel of 16

text: Ceph/utah pedigree 1332

text: GM10848 male unaffected Ceph/utah pedigree 1332 sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 27 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: child

text: Homo sapiens

text: Caucasian

text: Female

text: ND21220 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Mother

text: UTAH/MORMON

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Snp500 panel

text: Ceph/utah pedigree 1332

text: GM10849 female unaffected Ceph/utah pedigree 1332 sample


text: Coriell

text: live

text: Generic

text: 58 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Population/convenience control

characteristic: tag

text: Unrelated condition upon exam

text: ND21221 female unaffected Population/convenience control sample


characteristic: DNA id

text: Coriell

characteristic: INSDC secondary accession

text: live

characteristic: INSDC status

text: Generic

characteristic: SRA accession

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Mother

characteristic: description

text: UTAH/MORMON

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: International hapmap project - ceph utah residents with ancestry from northern and western europe

text: Ceph/utah pedigree 1344

text: GM10850 female unaffected International hapmap project - ceph (plate ii) utah residents with ancestry from northern and western europe sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 56 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: parent

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: ND21223 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: Coriell plate

characteristic: HapMap sample ID

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

characteristic: Population Description

text: EUR

characteristic: Super Population Code

text: European

characteristic: Super Population Description

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

characteristic: culture collection

text: Father

text: UTAH/MORMON

characteristic: ethnicity

text: father

text: Homo sapiens

text: CEU

characteristic: population

text: Caucasian

text: male

text: Coriell GM10851


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: Epilepsy

text: 36 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: More than one race

text: Male

characteristic: sex

text: Epilepsy

characteristic: tag

text: ND21224 male affected Epilepsy sample

characteristic: title


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

characteristic: INSDC secondary accession

text: live

text: Generic

characteristic: NCBI submission model

characteristic: SRA accession

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Mother

characteristic: description

text: UTAH/MORMON

characteristic: family id

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Ceph/utah pedigree 1346

text: GM10852 female unaffected International hapmap project - ceph (plate ii) utah residents with ancestry from northern and western europe sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: Parkinson disease

text: 73 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: ND21232 male affected Parkinson disease sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Father

text: UTAH/MORMON

characteristic: ethnicity

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Ceph/utah pedigree 1349

characteristic: tag

text: GM10853 male unaffected International hapmap project - ceph (plate ii) utah residents with ancestry from northern and western europe sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 70 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: unaffected spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Control

text: Population/convenience control

text: ND21233 female unaffected Control sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Mother

characteristic: description

text: UTAH/MORMON

characteristic: family id

text: mother

text: 45;X 34 /46;XX 16

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/utah pedigree 1349

text: Cytochrome p450, subfamily iic, polypeptide 19

text: GM10854 female unaffected Human variation panel - european caucasian panel of 24 sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 62 YR

text: B-Lymphocyte

text: NINDS Repository

text: german;english

text: husband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Control

text: Population/convenience control

text: ND21236 male unaffected Control sample


characteristic: DNA id

text: Coriell

characteristic: INSDC secondary accession

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

characteristic: SRA accession

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Mother;donor subject is heterozygous for an A>C change at nucleotide 1061 (1061A>C) in exon 7 of the CYP2C9 gene (CYP2C9*3) which results in a substitution of leucine for isoleucine at codon 359 Ile359Leu (I359L)

text: UTAH/MORMON

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/utah pedigree 1350

text: International hapmap project - ceph (plate i) utah residents with ancestry from northern and western europe

text: GM10855 female unaffected Cytochrome p450, subfamily iic, polypeptide 9 sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 77 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: German;Czech

characteristic: ethnicity

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Control

characteristic: tag

text: Population/convenience control

text: ND21239 male unaffected Control sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Father;donor subject has a single bp (G-to-A) transition at nucleotide 681 in exon 5 of the CYP2C19 gene (CYP2C19*2) which creates an aberrant splice site. The change altered the reading frame of the mRNA starting with amino acid 215 and produced a premature stop codon 20 amino acids downstream;resulting in a truncated;nonfunctional protein. Because of the aberrant splice site;a 40-bp deletion occurred at the beginning of exon 5 (from bp 643 to bp 682);resulting in deletion of amino acids 215 to 227. The truncated protein had 234 amino acids and would be catalytically inactive because it lacked the heme-binding region.

characteristic: description

text: UTAH/MORMON

characteristic: family id

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 1350

text: GM10856 male unaffected International hapmap project - ceph (plate i) utah residents with ancestry from northern and western europe sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: 57 YR

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: ND21242 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC secondary accession

text: live

text: Generic

characteristic: SRA accession

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Father

text: UTAH/MORMON

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 1346

text: Human variation panel - european caucasian panel of 24

text: GM10857 male unaffected Human variation panel - european caucasian panel of 16 sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Epilepsy

text: 18 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: PANAMA

characteristic: ethnicity

text: brother

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Epilepsy

characteristic: tag

text: ND21243 male affected Epilepsy sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Father;donor subject is heterozygous for a C>T change at nucleotide 416 (416C>T) in exon 3 of the CYP2C9 gene (CYP2C9*2) which results in a substitution of cysteine for arginine at codon 144 Arg144Cys (R144C)

characteristic: description

text: UTAH/MORMON

characteristic: family id

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Cytochrome p450, subfamily iic, polypeptide 9

text: Snp500 panel

text: Ceph/utah pedigree 1347

text: GM10858 male unaffected Human variation panel - european caucasian panel of 24 sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: 45 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: ND21244 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Mother

text: UTAH/MORMON

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: International hapmap project - ceph utah residents with ancestry from northern and western europe

text: Snp500 panel

text: Ceph/utah pedigree 1347

text: GM10859 female unaffected International hapmap project - ceph (plate i) utah residents with ancestry from northern and western europe sample


text: Coriell

text: live

text: Generic

text: 74 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND21245 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC secondary accession

text: live

text: Generic

characteristic: SRA accession

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Father

text: UTAH/MORMON

characteristic: ethnicity

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Cytochrome p450, subfamily iic, polypeptide 19

characteristic: tag

text: Snp500 panel

text: Ceph/utah pedigree 1362

text: GM10860 male unaffected Human variation panel - european caucasian panel of 24 sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: 71 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND21246 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Mother

characteristic: description

text: UTAH/MORMON

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Snp500 panel

text: Ceph/utah pedigree 1362

text: International hapmap project - ceph (plate i) utah residents with ancestry from northern and western europe

text: GM10861 female unaffected Human variation panel - european caucasian panel of 24 sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Tourette syndrome

text: 41 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND21247 male affected Tourette syndrome sample