text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 46 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically and karyotypically normal parent of monozygotic twins;one with a partial trisomy 22 (GM16362 ) and one normal (GM16363)

characteristic: description

text: mother

text: 46;XX. ish 22p11.1(D22Z1x2);22q11.1(TUPLEx2);22qter(D22S1726x2;ARSAx2);46;XX.arr(1-22;X)x2

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: sex

text: Apparently healthy non-fetal tissue

text: GM16268 female unaffected Apparently healthy non-fetal tissue sample


status: PUBLIC

characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: Epilepsy

tag: attribute

text: 34 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

characteristic: family id

text: sibling

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Epilepsy

characteristic: tag

text: ND27201 female affected Epilepsy sample

characteristic: title


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 39 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: description

text: father

text: 46;XY.ish 22(TUPLE1x2;ARSAx2)

text: Homo sapiens

text: Caucasian

text: Male

text: Apparently healthy non-fetal tissue

text: GM16269 male unaffected Apparently healthy non-fetal tissue sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Epilepsy

text: 20 YR

text: B-Lymphocyte

text: NINDS Repository

text: sibling

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: sex

text: Epilepsy

text: ND27219 female affected Epilepsy sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: RTT

text: 6 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;symptoms began at 6 months of age;head circumference deceleration;developmental delay;nonambulatory;nonverbal;no hand use;repetitive hand motions;rigidity/spasticity with low muscle tone;tremor;seizures;EEG showed minor abnormalities;eating difficulties with reflux;some teeth grinding;some constipation;breathing problems;slight spinal curve;small feet;circulation problems;history of leucomoid reaction;some sleep problems;the donor subject carries a C-to-T change at nucleotide 763 (CGA>TGA) in the gene encoding methyl-CpG binding protein 2 (MECP2) which results in an arginine-to-stop codon at position 255 ARG255TER (R255X) .

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: RTT

text: Methyl-cpg-binding protein 2

text: Rett syndrome

text: GM16270 female affected RTT sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: 33 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: parent

text: Homo sapiens

text: Caucasian

text: Female

text: ND27232 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: RTT

text: 3 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Growth and developmental delay;can walk only with assistance;nonverbal;no hand use;constant repetitive hand motions;no seizures;but significantly abnormal EEG;teeth grinding;some sleep difficulties;eating problems with minor reflux;breath holding and hyperventilation;small feet;some tremor;the donor subjects carries a C>T transition at nucleotide 473 (ACG>ATG) in exon 3 of the gene encoding methyl-CpG binding protein 2 (MECP2) resulting in the substitution of threonine 158 by methionine THR158MET (T158M) in the methyl-binding domain.

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: tag

text: RTT

text: Methyl-cpg-binding protein 2

text: Rett syndrome

text: GM16271 female affected RTT sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 38 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: parent

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND27233 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 1 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;oro-motor incoordination;aspiration events;developmental delay;hypotonia;alacrima;lack of fungiform papillae;decreased deep tendon reflexes;dysautonomic crisis episodes;seizures;affected brother is GM16184.

characteristic: description

text: ASHKENAZI

characteristic: ethnicity

text: sister

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: GM16272 female affected Neuropathy, hereditary sensory and autonomic type iii sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: 40 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: parent

text: Homo sapiens

text: More than one race

text: Male

text: ND27234 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 4 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Partial trisomy 22;anal abnormality at birth treated with regular dilatation;anal stenosis;possible absence seizures;developmental delay and growth retardation;not walking;sitting;or speaking at age 2 years;normal monozygotic twin brother is GM16363

characteristic: family id

text: proband

characteristic: karyotype

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Aneuploid chromosome number - trisomy

text: Copy number variation (cnv) reference panel

text: Monozygotic twin pairs

text: GM16362 male unaffected Aneuploid chromosome number - trisomy sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 40 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: parent

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: ND27235 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 4 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;monozygotic twin brother (GM16362) has partial trisomy 22

characteristic: description

text: twin brother

text: 46;XY.ish 22(TUPLE1x2;ARSAx2)

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Apparently healthy non-fetal tissue

text: Monozygotic twin pairs

text: GM16363 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: Tourette syndrome

text: 15 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Tourette syndrome

text: ND27239 male affected Tourette syndrome sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: RTT

text: 4 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;some seizures;loss of purposeful hand use;repetitive hand motions;nonverbal;acquired microcephaly;small feet;some problems with circulation;constipation;some teeth grinding;EEG showed significant abnormalities;eating problems with some reflux;nonambulatory with jerky truncal ataxia;breath holding;balanced t(8;12) inherited from mother;in addition;the donor subject carries a C>T transition at nucleotide 473 (ACG>ATG) in exon 3 of the gene encoding methyl-CpG binding protein 2 (MECP2) resulting in the substitution of threonine 158 by methionine THR158MET (T158M) in the methyl-binding domain.

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: RTT

text: Methyl-cpg-binding protein 2

text: Rett syndrome

text: GM16368 female affected RTT sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 42 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: ND27240 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 47 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: XP86BE;clinically affected cousin of GM17418;sun sensitivity;freckling;hyper- & hypo-pigmentation;skin atrophy;neurological abnormalities;several skin cancers since age 7 years including basal cell carcinoma;squamous cell carcinoma;and melanoma;low levels of unscheduled DNA synthesis;see GM17422 Lymphoid

text: paternal cousin

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: XPC

text: GM16370 female affected Xeroderma pigmentosum, complementation group c sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: 10 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: ND27241 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 4 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;microcephaly;mental and growth retardation;unusual facies;hypoparathyroidism;sister is also affected;product of consanguineous marriage

characteristic: description

text: GAMBIAN

characteristic: ethnicity

text: Homo sapiens

text: Black

text: Male

characteristic: sex

text: Sanjad-sakati syndrome

text: HRD

text: GM16372 male affected Hypoparathyroidism-retardation-dysmorphism syndrome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 42 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND27242 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 7 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;B.S. Registry #81;born at term;birth weight = 1;800 grams;at age 13 months: weight = 5.6 kg;height = 64 cm;at age 7 years height and weight below 3rd percentile;butterfly rash on cheeks;syndactyly of right fourth and fifth toes;long;narrow face with long philtrum;low normal immunoglobulins;increased chromosome breakage;increased sister chromatid exchange;donor subject is homozygous for a C>A transversion at nucleotide 1784 of the RECQL3 gene 1784C>A resulting in a substitution of a termination signal for serine at codon 595 Ser595Ter (S595X);parents are second cousins once removed;this line was developed as clone of GM03509 by limited dilution.

text: FRENCH CANADIAN

characteristic: gene

text: 46;XY;dup(12)(pter>q15::q15>q12::q15>qter);dup(18)(pter>q23::q23>q21.1::q23>qter) 25 /46;XY;t(1;14)(1qter>1p36::14q13>14qter;14pter>14q13::1p36>1pter) 20 /46;XY;dup(18)(pter>q23::q23>q21.1::q23>qter) 5

characteristic: karyotype

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: BLM

text: Bloom syndrome

text: Recq protein-like 3

text: GM16375 male affected RECQL3 sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Epilepsy

text: 2 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

characteristic: tag

text: ND27253 female affected Epilepsy sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 21 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;B.S. Registry #27;born at term;birth weight = 1;960 grams;at age 2 years: weight = 6.8 kg;height = 74 cm;short stature;learning disabilities;sun sensitive facial telangiectasias;cafe-au-lait spots;high rate of sister chromatid exchange;chromosome breakage;donor subject is homozygous for a 6-bp deletion/7-bp insertion 6-bp del/7-bp ins at nucleotide 2;281 of the open reading frame of the RECQL3 gene;which results in a frameshift and a stop codon;same donor as GM09960.

characteristic: description

text: ASHKENAZI

text: proband

text: 6-BP DEL/7-BP INS

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: BLM

text: Bloom syndrome

text: Recq protein-like 3

text: GM16377 female affected RECQL3 sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: Epilepsy

text: 21 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Epilepsy

text: ND27262 male affected Epilepsy sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Leprechaunism

text: 2 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;classic clinical phenotype with acanthosis nigricans;large ears;large hands;large feet;and typical facies;insulin levels > 7;000

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Rabson-mendenhall syndrome

text: Pineal hyperplasia, insulin-resistant diabetes mellitus and somatic abnormalities

text: Leprechaunism

text: GM16378 male affected Leprechaunism sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Epilepsy

text: 19 YR

text: B-Lymphocyte

text: NINDS Repository

text: sibling

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

text: ND27263 female affected Epilepsy sample


text: Coriell

text: live

text: Generic

text: 39 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: XPH89BE;Sephardic Jewish;mother of an affected child (GM16381);see GM16383 Lymphoid;the donor subject is heterozygous for a 4 bp deletion in exon 4 of the XPC gene (525_528delTGAG) resulting in a frameshift and premature termination (S140fsX146)

text: SEPHARDIC

characteristic: ethnicity

characteristic: family id

text: mother

text: XPC

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: XPC

text: GM16379 female unaffected Xeroderma pigmentosum, complementation group c sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 34 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: parent

text: Homo sapiens

text: More than one race

text: Female

text: ND27268 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: 45 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: XPH88BE;Ashkenazi Jewish;father of an affected child (GM16381);see GM16384 Lymphoid;donor subject has an A>T transversion at nucleotide 1669 in exon 8 (1669A>T) resulting in a substitution of a termination signal for lysine at codon 522 Lys522Ter (K522X)

characteristic: description

text: ASHKENAZI

text: father

text: XPC

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: XPC

text: GM16380 male unaffected Xeroderma pigmentosum, complementation group c sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 42 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: parent

text: Homo sapiens

text: Asian

characteristic: race

text: Male

characteristic: sex

text: ND27269 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 14 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: XP87BE;clinically affected;Ashkenazi/Sephardic Jewish;sun sensitivity;freckles;hyper- and hypo-pigmentation;multiple skin cancers including basal cell carcinoma;squamous cell carcinoma;and melanoma;see GM16385 Lymphoid;donor subject is a compound heterozygote: the maternal allele has a 4 bp deletion in exon 4 of the XPC gene (525_528delTGAG) resulting in a frameshift and premature termination (S140fsX146);the paternal allele has an A>T transversion at nucleotide 1669 in exon 8 (1669A>T) resulting in a substitution of a termination signal for lysine at codon 522 Lys522Ter (K522X)

text: ASHKENAZI/SEPHARDIC

characteristic: ethnicity

characteristic: family id

text: proband

text: XPC

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: XPC

text: GM16381 male affected Xeroderma pigmentosum, complementation group c sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Tourette syndrome

text: 14 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Tourette syndrome

characteristic: tag

text: ND27270 female affected Tourette syndrome sample


characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: RTT

text: 6 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;syptoms began at 6 months of age;mild autism;nonverbal;limited purposeful hand use;repetitive hand motions;jerky truncal ataxia;but can walk with assistance;slight spinal curve;some circulation and breathing problems;minor eating difficulties;subclinical seizures;occasional tremors;mild acquired microcephaly;EEG significantly abnormal;donor subject carries a 26 base pair deletion beginning at nucleotide 1160 1160(26del) of the gene encoding methyl-CpG binding protein 2 (MECP2)

characteristic: description

text: IRISH/ITALIAN

text: Homo sapiens

text: Caucasian

text: Female

text: RTT

text: Methyl-cpg-binding protein 2

text: Rett syndrome

text: GM16382 female affected RTT sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 31 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: parent

text: Homo sapiens

characteristic: organism

text: Hispanic/Latino

characteristic: race

text: Male

characteristic: sex

text: ND27280 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: 45 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: XPH88BE;Ashkenazi Jewish;father of an affected child (GM16385);see GM16380 Fibroblast;donor subject has an A>T transversion at nucleotide 1669 in exon 8 (1669A>T) resulting in a substitution of a termination signal for lysine at codon 522 Lys522Ter (K522X)

text: ASHKENAZI

characteristic: ethnicity

characteristic: family id

text: father

text: XPC

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: XPC

text: GM16384 male unaffected Xeroderma pigmentosum, complementation group c sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 34 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: parent

text: Homo sapiens

text: More than one race

text: Female

characteristic: tag

text: ND27281 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

text: 14 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: XP87BE;clinically affected;Ashkenazi/Sephardic Jewish;sun sensitivity;freckles;hyper- and hypo-pigmentation;multiple skin cancers including basal cell carcinoma;squamous cell carcinoma;and melanoma;see GM16381 Fibroblast;donor subject is a compound heterozygote: the maternal allele has a 4 bp deletion in exon 4 of the XPC gene (525_528delTGAG) resulting in a frameshift and premature termination (S140fsX146);the paternal allele has an A>T transversion at nucleotide 1669 in exon 8 (1669A>T) resulting in a substitution of a termination signal for lysine at codon 522 Lys522Ter (K522X)

characteristic: description

text: ASHKENAZI/SEPHARDIC

text: proband

text: XPC

text: Homo sapiens

text: Caucasian

text: Male

text: XPC

text: GM16385 male affected Xeroderma pigmentosum, complementation group c sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Tourette syndrome

text: 10 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: African American

characteristic: race

text: Male

characteristic: sex

text: Tourette syndrome

text: ND27299 male affected Tourette syndrome sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: 9 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: XPH90BE;clinically normal;Ashkenazi/Sephardic Jewish;brother of an affected sib (GM16385)

text: ASHKENAZI/SEPHARDIC

characteristic: ethnicity

characteristic: family id

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: XPC

text: GM16386 male unaffected Xeroderma pigmentosum, complementation group c sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 30 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: mother

text: Homo sapiens

text: African American

text: Female

text: ND27300 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 29 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically unaffected sister or two siblings affected with cystinuria (GM16481 and GM16500);hypothyroidism diagnosed at age 25;one allele carries a ATG-ACG transversion resulting in a substitution of threonine for methionine at codon 467 MET467THR (M467T) in the SLC3A1 gene.

text: sister

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: CSNU

characteristic: tag

text: Cystinuria

text: Solute carrier family 3 member 1

text: GM16387 female unaffected SLC3A1 sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

text: 40 YR

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND27303 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 20 DA

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;cleft lip/palate;bilateral popliteal pterygium;ankyloblepharon;syndactyly;cryptorchidism;product of consanguineous first cousin mating

characteristic: description

text: proband

text: Homo sapiens

characteristic: organism

text: African American

characteristic: race

text: Male

characteristic: sex

text: BPS

text: Bartsocas-papas syndrome

text: GM16389 male affected Popliteal pterygium syndrome, lethal type sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: Tourette syndrome

text: 13 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND27304 male affected Tourette syndrome sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 8 MO

characteristic: age

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;swelling;erythema on minimal sun exposure;defective unscheduled DNA synthesis

text: SCOTTISH

characteristic: ethnicity

text: Homo sapiens

text: Caucasian

text: Male

text: XPD

text: GM16390 male affected Xeroderma pigmentosum, complementation group d sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 54 YR

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Subarachnoid hemorrhage

characteristic: tag

text: ND27308 male affected Subarachnoid hemorrhage sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Trichothiodystrophy

text: 10 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;low birth weight;short stature;impaired development;skin of trunk ichthyotic;scalp hair short and coarse;elfinlike facies with a beaked nose;receding chin;and large protruding ears;big toenails show lateral ridging;ataxic gait;microscopic exam of hair revealed striking transverse bandlike defects under polarized light and trichorrhexis nodosalike transverse fractures of the hair shafts;electron microscopy demonstrated ridging and fluting along the hair shaft with loss of normal pattern of cuticular scales;amino acid analysis of hair samples showed reduced cystine content (4.6% compared to 8.4% in normal control);abnormally low unscheduled DNA synthesis induced by UVC irradiation and bulk of recovery of RNA synthesis after UVC irradiation

text: WELSH

text: Homo sapiens

text: Caucasian

text: Female

text: Trichothiodystrophy

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

text: GM16391 female affected Trichothiodystrophy sample

characteristic: title


text: Coriell

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 53 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Intracranial aneurysm - unruptured

text: ND27310 female affected Intracranial aneurysm - unruptured sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: XPG

text: 13 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: XP65BE;clinically affected;sun sensitivity;several blistering sunburns on minimal exposure;no skin cancers;mild freckling on face;mild XP with no neurological abnormalities;unscheduled DNA synthesis is 10.8% of normal;GM16024 is a lymphoblastoid cell line from the same individual;donor subject is a compound heterozygote: the paternal allele carries a C>T transition at nucleotide 603 (603C>T) in exon 4 of the ERCC5 gene resulting in a nonsense mutation at codon 136 Gln136TER (Q136X);the maternal allele carries a G>A transition at nucleotide 2817 (2817G>A) in exon 12 resulting in a missense mutation at codon 874 Ala874Thr (A874T).

characteristic: description

text: proband

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Xeroderma pigmentosum, complementation group g

text: Excision-repair: complementing defective in chinese hamster 5

text: XPG

text: GM16398 female affected XPG sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: Epilepsy

text: 19 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: African American

text: Female

text: Epilepsy

text: ND27320 female affected Epilepsy sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 44 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Phenotypically normal mother of two affected children (GM16401 & GM16402)

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: AVSD

text: Atrioventricular septal defect

text: GM16400 female unaffected Atrioventricular septal defect sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 42 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: African American

text: Female

characteristic: tag

text: ND27321 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Atrioventricular septal defect

text: 18 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Non-syndromic isolated atrioventricular canal defect;no additional birth defects;healthy since surgical correction;affected brother is GM16402

characteristic: description

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: AVSD

text: Atrioventricular septal defect

text: GM16401 female affected Atrioventricular septal defect sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 41 YR

text: B-Lymphocyte

text: NINDS Repository

text: Homo sapiens

text: Asian

text: Female

characteristic: sex

text: Population/convenience control

text: ND27334 female unaffected Population/convenience control sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: Atrioventricular septal defect

text: 14 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Non-syndromic isolated atrioventricular canal defect;no additional birth defects;healthy since surgical correction;affected sister is GM16401

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: AVSD

text: Atrioventricular septal defect

text: GM16402 male affected Atrioventricular septal defect sample


text: Coriell

text: live

text: Generic

text: 71 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Homo sapiens

text: Asian

text: Female

text: Population/convenience control

text: ND27335 female unaffected Population/convenience control sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: RTT

text: 6 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;symptoms began at 6 months of age;loss of purposeful hand use;repetitive hand motions;acquired microcephaly;developmental delay;nonverbal;eating difficulties with reflux;teeth grinding;no seizures;some tremor;wide-based apractic gait;hyperventilation;diffuse hypotonia;circulation problems;cranial MRI showed deep left frontal sulci;deep tendon reflexes are 1-2+ with bilateral plantar flexion;slight spinal curve;the donor subject carries a G>A transition at nucleotide 481 in the gene encoding methyl-CpG binding protein 2 (MECP2) resulting in the substitution of the conserved amino acid glycine 161 by valine GLY161VAL (G161V) in the methyl-binding domain.

text: JEWISH

characteristic: ethnicity

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: RTT

text: Methyl-cpg-binding protein 2

text: Rett syndrome

text: GM16405 female affected RTT sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

text: 35 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

characteristic: family id

text: parent

text: Homo sapiens

text: Caucasian

text: Male

text: ND27339 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 46 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Phenotypically normal father of two affected children (GM16401 & GM16402)

characteristic: description

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: AVSD

characteristic: tag

text: Atrioventricular septal defect

text: GM16406 male unaffected Atrioventricular septal defect sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: 32 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: parent

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: ND27340 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 20 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Phenotypically normal sister of two affected siblings (GM16401 & GM16402)

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: AVSD

text: Atrioventricular septal defect

text: GM16407 female unaffected Atrioventricular septal defect sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Epilepsy

text: 22 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: sibling

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

text: ND27342 female affected Epilepsy sample


text: Coriell

text: live

text: Generic

text: 20 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: XP105BE;clinically affected;severe solar elastosis;freckling;solar keratoses since age two years;donor subject is homozygous for a 2 bp deletion in exon 5 of the XPC gene (669_670delAT) resulting in premature termination 10 codons downstream (C223fsX233)

text: proband

text: XPC

characteristic: gene

text: 2-BP DEL

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: XPC

text: GM16467 female affected Xeroderma pigmentosum, complementation group c sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Epilepsy

text: 23 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Epilepsy

text: ND27343 male affected Epilepsy sample


text: Coriell

text: live

text: Generic

text: 52 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: XPH106BE;mother of an affected child (GM16467);donor subject is heterozygous for a 2 bp deletion in exon 5 of the XPC gene (669_670delAT) resulting in premature termination 10 codons downstream (C223fsX233)

characteristic: description

text: mother

text: XPC

text: 2-BP DEL

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: tag

text: XPC

text: GM16468 female unaffected Xeroderma pigmentosum, complementation group c sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: 47 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: parent

text: Homo sapiens

text: Caucasian

text: Female

text: ND27344 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

text: 52 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: XPH107BE;father of an affected child (GM16467);donor subject is heterozygous for a 2 bp deletion in exon 5 of the XPC gene (669_670delAT) resulting in premature termination 10 codons downstream (C223fsX233)

text: father

text: XPC

text: 2-BP DEL

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: XPC

text: GM16469 male unaffected Xeroderma pigmentosum, complementation group c sample


text: Coriell

text: live

text: Generic

text: 47 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: parent

text: Homo sapiens

text: Hispanic/Latino

text: Male

text: ND27346 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: 38 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Obligate heterozygote;asymptomatic;affected son is GM14978

text: ITALIAN

characteristic: ethnicity

characteristic: family id

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Familial mediterranean fever

text: MEFV

text: GM16479 male unaffected Familial mediterranean fever sample


text: Coriell

text: live

text: Generic

text: 48 YR

text: B-Lymphocyte

text: NINDS Repository

text: parent

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

characteristic: tag

text: ND27347 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: RTT

text: 14 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;onset at 18 months of age;diagnosed at age 3;EEG showed minor abnormalities;breath holding;swallowing difficulties;growth retardation;limited purposeful hand use;muscle rigidity;some repetitive hand motions;speaks using single words;some circulation problems;occasional tremors;no scoliosis;seizures;small feet;teeth grinding;donor subject has a 916C-T (916C>T) transition in exon 3 of the MECP2 gene resulting in an arg306-to-cys ARG306CYS (R306C) amino acid change.

characteristic: description

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: RTT

text: Methyl-cpg-binding protein 2

text: Rett syndrome

text: GM16480 female affected RTT sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 38 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Ashkenazi Jewish

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: ND27350 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 45 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;affected sister is GM16500;one allele carries a ATG-ACG transversion resulting in a substitution of threonine for methionine at codon 467 Met467Thr (M467T) in the SLC3A1 gene.

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: CSNU

text: Cystinuria

text: Solute carrier family 3 member 1

text: GM16481 male affected SLC3A1 sample


text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 15 YR

text: B-Lymphocyte

text: NINDS Repository

text: Ashkenazi Jewish

characteristic: ethnicity

characteristic: family id

text: brother

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Tourette syndrome

characteristic: tag

text: ND27351 male affected Tourette syndrome sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: 71 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected mother of an affected son (GM14861) and an affected daughter (GM16500);donor subject has no mutations in either the SLC7A9 or the SLC3A1 genes.

characteristic: description

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: CSNU

text: Cystinuria

text: Solute carrier family 3 member 1

text: GM16482 female unaffected SLC3A1 sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 58 YR

text: B-Lymphocyte

text: NINDS Repository

text: Homo sapiens

text: Asian

text: Female

text: Population/convenience control

text: ND27352 female unaffected Population/convenience control sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 72 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected father of an affected son (GM14861) and an affected daughter (GM16500);one allele carries a ATG-ACG transversion resulting in a substitution of threonine for methionine at codon 467 MET467THR (M467T) in the SLC3A1 gene.

text: father

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: CSNU

text: Cystinuria

text: Solute carrier family 3 member 1

text: GM16483 male unaffected SLC3A1 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 69 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Homo sapiens

text: Asian

text: Male

characteristic: sex

text: Population/convenience control

text: ND27353 male unaffected Population/convenience control sample


text: Coriell

text: live

text: Generic

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: CABM011;clinically affected;seizures at 3 years of age;vision deterioration and cognitive dysfunction at 4 years of age;motor coordination dysfunction;CLN2 protease deficient;donor subject is a compound heterozygote: one allele carries a C-to-T transition at nucleotide g.3084 (c.379C>T) which converts the arg-127 codon (CGA) to a stop codon (TGA);resulting in a nonsense mutation in exon 4 of the CLN2 (TPP1) gene ARG127TER (R127X) and a second allele carries a C-to-T transition at nucleotide g.3670 (c.622C>T) which converts the arg-208 codon (CGA) to a stop codon (TGA);resulting in a nonsense mutation in exon 6 of the CLN2 (TPP1) gene ARG208TER (R208X) .

text: Homo sapiens

characteristic: organism

text: Hispanic/Latino

characteristic: race

text: Female

characteristic: tag

text: Cln2 gene

text: Ceroid lipofuscinosis, neuronal 2, late infantile type

text: GM16485 female affected CLN2 sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: 45 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND27361 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Refsum disease

text: 29 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;retinitis pigmentosa diagnosed at age 15;skeletal abnormalities with shortening of III-V metatarsal and IV-V metacarpal bones;no ichthyosis;slight ataxic gait;mild pallhypasthesia on hands and legs up to hips;deficient phytanic acid oxidase

characteristic: description

text: Homo sapiens

text: Caucasian

text: Female

text: Refsum disease

text: Retinitis pigmentosa 1

text: GM16491 female affected Refsum disease sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Epilepsy

text: 2 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: PATERNAL GRANDPARENTS: PUERTO RICO

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Other

text: Female

text: Epilepsy

text: ND27371 female affected Epilepsy sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Refsum disease

text: 63 YR

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;at age 35 developed recurrent dry skin legions and progressive hearing problems;intracochlear implant in right ear;at age 44 blurred vision;cataract in left eye removed;night blindness;bilateral glaucoma;retinitis pigmentosa diagnosed;hyposmia;anacusis;skeletal malformations with shortening of the fingers and toes;tendon reflexes diminished;mild distal weakness of arms and legs;sensation to light touch diminished in right hand and legs;deficient phytanic acid oxidase

text: Homo sapiens

text: Caucasian

text: Female

text: Refsum disease

text: Retinitis pigmentosa 1

text: GM16492 female affected Refsum disease sample


text: Coriell

text: live

text: Generic

text: Epilepsy

text: 13 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Caucasian;American Indian/Alaska Native;Asian

text: sibling

text: Homo sapiens

characteristic: organism

text: More than one race

text: Female

characteristic: sex

text: Epilepsy

text: ND27373 female affected Epilepsy sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Refsum disease

text: 28 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;deficient phytanic acid oxidation and peroxisomal plasmalogen synthesis enzymes;very long chain fatty acids are higher than normal;amount of C26:0 and the ratios of C24/22 and C26/22 are higher than normal;delayed development;pigmentary degeneration of the retina and virtual loss of vision and hearing developed by early twenties;MRI of brain showed atrophy and leukodystrophy;midface hypoplasia;epicanthal folds;beaked nose;sister is also affected

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Infantile form

characteristic: tag

text: Refsum disease

text: GM16493 male affected Refsum disease sample


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: 44 YR

text: B-Lymphocyte

text: NINDS Repository

text: ash j

characteristic: family id

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND27376 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Refsum disease

text: 40 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;pigmentary degeneration of the retina and severe hearing impairment;mute;incontinent;MRI showed progressive leukodystrophy;deficient phytanic acid oxidase;amounts of C26:0 and C26:1 and the C26/22 ratio are higher than normal

characteristic: description

text: Homo sapiens

text: Caucasian

text: Female

text: Infantile form

text: Refsum disease

text: GM16494 female affected Refsum disease sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 44 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: ash j

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND27377 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Zellweger syndrome

text: 4 MO

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;severe failure to thrive;hypotonia;wide open cranial sutures;liver disease and retinal blindness;amounts of C26:0 and C26:1 and the ratio of C26/22 are higher than normal;deficient plasmalogen synthesis enzymes

text: Homo sapiens

text: Hispanic/Latino

text: Male

text: Zellweger syndrome

text: ZS

text: GM16495 male affected Zellweger syndrome sample


text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 12 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: ash j

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND27378 male affected Tourette syndrome sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: RTT

text: 13 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;abnormal EEG and sleep patterns;ambulatory with assistance;breath holding and teeth grinding;loss of purposeful hand use;nonverbal;repetitive hand motions;scoliosis;seizures;muscle rigidity;spasticity;joint contractures;growth retardation;donor subject has a 763C>T nonsense mutation in exon 4 of the gene encoding methyl-CpG binding protein 2 (MECP2);resulting in a substitution of a stop codon for a conserved arginine at codon 255 ARG255TER (R255X) in the transcriptional-repression (TRD) functional domain.

text: proband

characteristic: gene

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: sex

text: RTT

text: Methyl-cpg-binding protein 2

text: Rett syndrome

text: GM16497 female affected RTT sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 54 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: father

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: tag

text: ND27379 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Cleft hand and absent tibia

text: 6 DA

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;diagnosed prenatally;tibial hypoplasia with short bent femurs and possible humeral pseudoarthrosis;in addition to ectrodactyly of right hand: proximal metacarpal fusion of 4th and 5th finger;absence of 3rd finger with central cleft;and macrosomic 2nd digit;absence of 2nd toe bilaterally

characteristic: description

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Cleft hand and absent tibia

text: GM16499 male affected Cleft hand and absent tibia sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 52 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND27380 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 49 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;renal calculi;amino acid analysis of urine revealed the presence of a large excess of cystine;as well as ornithine;lysine;and arginine;affected brother is GM16481;one allele carries a ATG-ACG transversion resulting in a substitution of threonine for methionine at codon 467 MET467THR (M467T) in the SLC3A1 gene.

text: proband

characteristic: gene

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: sex

text: CSNU

text: Cystinuria

text: Solute carrier family 3 member 1

text: GM16500 female affected SLC3A1 sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 10 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: brother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: tag

text: ND27381 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 7 MO

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;dolichocephaly;prominent high forehead;epicanthal folds;broad nasal bridge;anteverted nostrils;mental retardation;seizures;the plasma concentration of C26:0 (ug/ml) is 4.6 times the mean of the normal control range;C16 and C18 plasmalogen levels are lower than normal;amounts of C26:0 and C26:1 and the ratio of C26/22 are higher than normal;deficient peroxisomal plasmalogen synthesis enzymes

characteristic: description

text: Homo sapiens

text: Caucasian

text: Female

text: GM16510 female affected Adrenoleukodystrophy autosomal neonatal form sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Progressive supranuclear palsy

text: 63 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Filipino

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Asian

text: Female

text: Progressive supranuclear palsy

text: ND27402 female affected Progressive supranuclear palsy sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 3 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;dolichocephaly;prominent high forehead;epicanthal folds;broad nasal bridge;anteverted nostrils;mental retardation;adrenal insufficiency;C26:0 and C26:1 and the ratios of C24/22 and C26/22 are higher than normal;deficient plasmalogen synthesis enzymes;significantly increased levels of plasma and urine pipecolate

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: GM16512 female affected Adrenoleukodystrophy autosomal neonatal form sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 62 YR

text: B-Lymphocyte

text: NINDS Repository

text: Filipino

text: spouse

text: Homo sapiens

text: Asian

text: Male

characteristic: sex

text: Population/convenience control

text: ND27403 male unaffected Population/convenience control sample


text: Coriell

text: live

text: Generic

text: ZS

text: 5 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;dolichocephaly;prominent high forehead;epicanthal folds;broad nasal bridge;anteverted nostrils;leukodystrophy;adrenal insufficiency;mildly deficient peroxisomal plasmalogen synthesis enzymes;catalase is mainly in the cytosol;deficient phytanic acid oxidation;significantly increased pipecolic acid in plasma;C26:0 and C26:1 are higher than normal;higher than normal ratio of C26/22;donor subject has one allele with a 1 bp insertion in exon 13 of the PEX1 gene (2097insT) between codons F699 and I700 that results in a frameshift and a premature termination codon 41 amino acids downstream of the insertion;the mutation on the second allele is as yet unknown

characteristic: gene

text: 1-BP INS

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Peroxisome biogenesis factor 1

characteristic: tag

text: Zellweger syndrome

text: ZS

text: GM16513 male affected ZS sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Tourette syndrome

text: 10 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: More than one race

text: Male

text: Tourette syndrome

text: ND27404 male affected Tourette syndrome sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Zellweger syndrome

text: 8 MO

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;dolichocephaly;high prominent forehead;epicanthal folds;broad nasal bridge;anteverted nostrils;peculiar facies;mental retardation;adrenal insufficiency;deficient peroxisomal plasmalogen synthesis enzymes;C26:0 and C26:1 and the ratio of C26/22 are higher than normal;increased plasma pipecolate level;C18:0 plasmalogen level is lower than normal

characteristic: description

text: Homo sapiens

text: Caucasian

text: Male

text: Zellweger syndrome

text: ZS

text: GM16514 male affected Zellweger syndrome sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 29 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: mother

text: Homo sapiens

characteristic: organism

text: More than one race

text: Female

text: ND27405 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 11 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;biopsy taken from the inner forearm;dolichocephaly;prominent high forehead;visual impairment;epicanthal folds;broad nasal bridge;anteverted nostrils;hearing loss;mental retardation;higher than normal very long chain fatty acids;increased plasma pipecolate;decreased C18 plasmalogen levels;deficient peroxisomal plasmalogen synthesis enzymes;amounts of C26:0 and C26:1 and the ratio of C26/22 are higher than normal

text: Homo sapiens

text: Hispanic/Latino

text: Male

characteristic: sex

text: GM16521 male affected Adrenoleukodystrophy autosomal neonatal form sample


text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 32 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Tourette syndrome

characteristic: tag

text: ND27410 female affected Tourette syndrome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 3 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;biopsy was taken from the inner forearm;failure to thrive;large fontanelles;macrocephaly;flat facies;micrognathia;high forehead;posteriorly rotated ears;sensorineural deafness;hypertelorism;epicanthal folds;corneal clouding;redundant skin folds of neck;absent liver peroxisomes;hepatomegaly;renal cortical microcysts;stippled epiphyses;severe mental retardation;hypotonia;polymicrogyria;C24/22 and C26/22 ratios and level of C26:0 are increased;significantly increased plasma pipecolate levels;C16 and C18 plasmalogen levels are much lower than normal;deficient peroxisomal plasmalogen synthesis enzymes

text: Homo sapiens

text: Caucasian

text: Male

text: GM16523 male affected Adrenoleukodystrophy autosomal neonatal form sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 57 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND27411 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 2 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;biopsy taken from the inner forearm;deceased at age 2 1/2 years;dolichocephaly;prominent high forehead;epicanthal folds;broad nasal bridge;anteverted nostrils;leukodystrophy;increased very long chain fatty acids and phytanic acid;elevated plasma pipecolate levels;amounts of C26:0 and C26:1 and the ratio of C26/22 are higher than normal;deficient peroxisomal plasmalogen synthesis enzymes

text: Homo sapiens

text: Caucasian

text: Male

text: GM16524 male affected Adrenoleukodystrophy autosomal neonatal form sample


text: Coriell

text: live

text: Generic

text: 45 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND27412 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: Hemoglobin--beta locus

text: 11 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;hemoglobin 10.6g/dl;MCV 57fl;electrophoresis: A-87%;F-13%;reticulocyte 83 x 10 9/L;Hb A 2- 5.2%;no Heinz bodies observed

characteristic: description

text: MIDDLE EASTERN

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Hemoglobin--beta locus

text: HBB

text: GM16527 female affected Hemoglobin--beta locus sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 41 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND27413 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Hemoglobin--beta locus

text: 5 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;hemoglobin 10.2g/dl;MCV 58fl;electrophoresis: A-91%;F-9%;reticulocytes 54 x 10 9/L;Hb A 2-5.9%;no Heinz bodies observed

text: MIDDLE EASTERN

text: brother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Hemoglobin--beta locus

text: HBB

text: GM16528 male affected Hemoglobin--beta locus sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Tourette syndrome

text: 10 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

characteristic: tag

text: ND27414 male affected Tourette syndrome sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Hemoglobin--beta locus

text: 22 MO

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;hemoglobin 10.5g/dl;MCV 60fl;electrophoresis: A-96%;F-4%;reticulocytes 46 x 10 9/L;Hb A 2-6.2%;no Heinz bodies observed

text: MIDDLE EASTERN

characteristic: family id

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Hemoglobin--beta locus

text: HBB

text: GM16529 female affected Hemoglobin--beta locus sample


text: Coriell

text: live

text: Generic

text: 37 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: ash j

characteristic: ethnicity

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND27416 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 41 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Melanoma diagnosed at age 37;multiple melanomas removed;also has dysplastic nevi;donor subject has a missense mutation in codon 49 (ATC to ACC) of the CDKN2A (p16) gene which results in the insertion of a threonine instead of an isoleucine ILE49THR (I49T) .

characteristic: description

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Melanoma, cutaneous malignant, 2

text: Cyclin-dependent kinase inhibitor 2a

text: GM16532 female affected CMM2 sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 35 YR

text: B-Lymphocyte

text: NINDS Repository

text: ash j

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: ND27417 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 42 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Three primary melanomas removed;also has dysplastic nevi;donor subject has a 19-bp deletion in exon 2 of the CDKN2A (p16) gene;referred to as the p16 Leiden mutation.

text: 19-BP DEL

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

characteristic: tag

text: Melanoma, cutaneous malignant, 2

text: Cyclin-dependent kinase inhibitor 2a

text: GM16533 female affected CMM2 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Tourette syndrome

text: 9 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: ash j

characteristic: ethnicity

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND27418 male affected Tourette syndrome sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 49 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Melanoma diagnosed at 33;two primary melanomas removed;also has dysplastic nevi;donor subject has a 19-bp deletion in exon 2 of the CDKN2A (p16) gene;referred to as the p16 Leiden mutation.

characteristic: description

characteristic: gene

text: 19-BP DEL

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Melanoma, cutaneous malignant, 2

text: Cyclin-dependent kinase inhibitor 2a

text: GM16534 male affected CMM2 sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 44 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: ND27419 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

characteristic: NCBI submission package

text: 29 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal but with dysplastic nevi;at risk for developing melanoma;donor subject has a 24 bp duplication 5 to the start codon which introduces a new start codon.

text: 24-BP DUP

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

characteristic: tag

text: Melanoma, cutaneous malignant, 2

text: Cyclin-dependent kinase inhibitor 2a

text: GM16535 female unaffected CMM2 sample


text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 18 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND27420 male affected Tourette syndrome sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: RTT

text: 15 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;symptoms began at age 6 months;significantly abnormal EEG;breath holding;constipation;growth and mental retardation;limited purposeful hand use;nonverbal;repetitive hand motions;agitation;scoliosis;seizures;some tremors and teeth grinding;small hands and feet;severely microcephalic;gait apraxia and ataxia;donor subject is heterozygous for an 880C>T transition in the MECP2 gene resulting in an arg294-to-ter ARG294TER (R294X) nonsense mutation.

characteristic: description

text: Homo sapiens

text: Caucasian

text: Female

text: RTT

text: Methyl-cpg-binding protein 2

text: Rett syndrome

text: GM16546 female affected RTT sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Epilepsy

text: 16 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Epilepsy

text: ND27423 male affected Epilepsy sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: RTT

text: 5 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;abnormal sleep patterns;ambulatory;breath holding;constipation;decelerating head circumference;loss of purposeful hand use;nonverbal;poor hand and feet circulation;repetitive hand motions;self injurious behavior;small feet;teeth grinding;tremors;GM16548 fibroblast from the same donor;donor subject is heterozygous for a 730C>T transition in the MECP2 gene resulting in the substitution of a stop codon for a conserved glutamine GLU244TER (Q244X) .

text: proband

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: RTT

text: Methyl-cpg-binding protein 2

text: Rett syndrome

text: GM16547 female affected RTT sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Epilepsy

text: 21 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: sibling

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Epilepsy

characteristic: tag

text: ND27424 female affected Epilepsy sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: RTT

text: 5 YR

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;abnormal sleep patterns;ambulatory with some rigidity/spasticity;spine has slight curve;breath holding;constipation;decelerating head circumference;limited purposeful hand use;nonverbal;poor hand and feet circulation;repetitive hand motions;seldom exhibits self injurious behavior;small feet;teeth grinding;minor eating difficulties and reflux;tremors;EEG showed minor abnormalities;GM16547 lymphoblast from the same donor;donor subject is heterozygous for a 730C>T transition in the MECP2 gene resulting in the substitution of a stop codon for a conserved glutamine GLU244TER (Q244X) .

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: RTT

text: Methyl-cpg-binding protein 2

text: Rett syndrome

text: GM16548 female affected RTT sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Tourette syndrome

text: 10 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND27428 male affected Tourette syndrome sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: Abdominal muscles

text: 2 DA

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;ear tags on left ear;pulmonary hypoplasia;protuberant abdomen with lax musculature;cryptorchid;patulous anus;Potter phenotype;two-vessel cord;oligohydramnios;lipoma on back;unusual pad posterior to the underdeveloped scrotum

characteristic: description

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Abdominal muscles

text: Absence of with urinary tract abnormality and cryptorchidism

text: GM16555 male affected Abdominal muscles sample


text: Coriell

text: live

text: Generic

text: 42 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: ND27429 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Rett syndrome

text: 30 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;abnormal EEG;gastroesophageal reflux;hyperventilation;loss of purposeful hand use;nonverbal;muscle rigidity;poor circulation in legs and feet;seizures;tremors;teeth grinding;father has narcolepsy;see GM16563 (keratinocytes)

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: RTT

text: Rett syndrome

text: GM16560 female affected Rett syndrome sample


text: Coriell

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

characteristic: tag

text: ND27436 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Rett syndrome

text: 30 YR

characteristic: cell line

text: Keratinocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;abnormal EEG;gastrointestinal reflux;hyperventilation;loss of purposeful hand use;nonverbal;muscle rigidity;poor circulation in legs and feet;seizures;tremors;teeth grinding;father has narcolepsy;see GM16560 Lymphoid

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: RTT

text: Rett syndrome

text: GM16563 female affected Rett syndrome sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Tourette syndrome

text: 11 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND27437 male affected Tourette syndrome sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: Chromosome deletion

text: 11 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Line JL163;very mild phenotype;barely microcephalic;hypertelorism with down-slanting anti-mongoloid palpebral fissures;nose has flattened;widened bridge;no micrognathia;but large teeth;small chin;short 5th metacarpals;in-toes and has somewhat awkward gait;delayed milestones;wears glasses for strabismus;ears with malformed pinnae with superior fold;thich lips;voice not typical of Cri-du-Chat patients;parental line for hybrid GM 16596

text: CUBAN

characteristic: ethnicity

text: 46;XX;del(5)(pter>p15.2::p14.2>qter).ish del(5)(C84C11T7+;D5S721-;D5S23-;EGR1+);46;XX;del(5)(pter>p15.2::p14.2>qter).ish del(5)(C84C11T7+;D5S721-;D5S23-;EGR1+).arr 5p15.2p14.2(8686804-24072399)x1

characteristic: karyotype

text: Homo sapiens

text: Hispanic/Latino

text: Female

text: Cri-du-chat syndrome

text: Copy number variation (cnv) reference panel

text: Chromosome deletion

text: GM16595 female affected Chromosome deletion sample


text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 9 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Tourette syndrome

text: ND27438 female affected Tourette syndrome sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Nephrosis 1, congenital, finnish type

text: 3 MO

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;deceased;thoracic wall biopsy taken at autopsy;at 19 weeks gestation amniocentesis showed an alpha-fetoprotein level of 411 ug/ul;46;XX;no family knowledge of Mennonite or Finnish ancestry;severe nephrosis and discrete isthmic coarctation;increasing peak and mean Doppler gradients;high ventricular end-diastolic pressure;valvar pulmonary stenosis

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Nephrosis 1, congenital, finnish type

text: GM16627 female affected Nephrosis 1, congenital, finnish type sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Tourette syndrome

text: 60 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Jewish but DK if ash or nonash

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Tourette syndrome

characteristic: tag

text: ND27468 male affected Tourette syndrome sample


characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Factor v deficiency

text: 34 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Elevated red cell mass;active erythropoiesis;high affinity hemoglobin;the donor subject carries the hemoglobin Potomac mutation GLU101ASP (E101D) in the HBB gene;the donor subject is heterozygous for a guanine-to-adenine substitution at nucleotide 1691 (1691G>A) of the Factor V (F5) gene resulting in a replacement of arg506 (CGA) by gln (CAA) ARG506GLN (R506Q) .

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Factor v deficiency

text: Hemoglobin--beta locus

text: HBB

text: GM16643 female affected Factor v deficiency sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: 59 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: ashkenazi jewish

characteristic: ethnicity

characteristic: family id

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND27469 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 51 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Chinese;descendant of individuals from the city of Chengdu in mainland China

characteristic: description

text: CHINESE

text: Homo sapiens

text: Chinese

characteristic: race

text: Male

text: Human variation panel - chinese (version 2)

text: Chinese population

text: GM16654 male unaffected Chinese population sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Epilepsy

text: 3 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Epilepsy

characteristic: tag

text: ND27474 female affected Epilepsy sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: RET

text: 64 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;the donor subject is a member of a large kindred with multiple affected individuals BRA family (Xue et al. Hum. Molec. Genet. 3: 635-638;1994);this family is unusual because of the late onset of medullary thyroid cancer;the benign course of the tumor;and the low incidence of pheochromocytoma;no parathyroid disease has been observed;affected granddaughter is GM16659;one allele carries a TGC-to-TTC transversion resulting in a substitution of phenylalanine for cysteine at codon 620 CYS620PHE (C620F) in the RET gene.

text: proband

text: RET

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: RET

text: Ret protooncogene

text: Multiple endocrine neoplasia type ii

text: GM16658 female affected RET sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 39 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: ND27479 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: RET

text: 15 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;the donor subject is a member of a large kindred with multiple affected individuals BRA family (Xue et al. Hum. Molec. Genet. 3: 635-638;1994);this family is unusual because of the late onset of medullary thyroid cancer;the benign course of the tumor;and the low incidence of pheochromocytoma;no parathyroid disease has been observed;affected grandmother is GM16658;one allele carries a TGC-to-TTC transversion resulting in a substitution of phenylalanine for cysteine at codon 620 CYS620PHE (C620F) in the RET gene.

characteristic: description

text: granddaughter

text: RET

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: RET

text: Ret protooncogene

text: Multiple endocrine neoplasia type ii

text: GM16659 female affected RET sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 37 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

characteristic: tag

text: ND27480 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: RET

text: 57 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;the donor subject is a member of a very large kindred with 14 known individuals with familial medullary thyroid carcinoma NL family (Xue et al. Hum. Molec. Genet. 3: 635-638;1994);medullary thyroid cancer is low to moderate in its aggressiveness;there is a low incidence of pheochromocytoma;no parathyroid disease has been observed;one allele carries a TGC-to-TCC transversion resulting in a substitution of serine for cysteine at codon 618 CYS618SER (C618S) in the RET gene.

text: proband

text: RET

characteristic: gene

text: Homo sapiens

text: Caucasian

text: Male

text: RET

text: Ret protooncogene

text: Multiple endocrine neoplasia type ii

text: GM16660 male affected RET sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Tourette syndrome

text: 6 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND27481 male affected Tourette syndrome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Ataxia-telangiectasia

text: 5 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Donor had cerebellar ataxia;telangiectases;high alpha-fetoprotein levels;chromosomal instability;and immunodeficiency;derivative of an SV40-transformed fibroblast line obtained by transfecting the cell line with the episomal vector pEBSt;line grown in the presence of 100ug/ml hygromycin

characteristic: description

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: AT

text: Ataxia-telangiectasia

text: GM16666 female affected Ataxia-telangiectasia sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

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: Male

text: Progressive supranuclear palsy

text: ND27482 male affected Progressive supranuclear palsy sample

characteristic: title


text: Coriell

text: live

text: Generic

text: Ataxia-telangiectasia

text: 5 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Donor had cerebellar ataxia;telangiectases;high alpha-fetoprotein levels;chromosomal instability;and immunodeficiency;derivative of an SV40-transformed fibroblast line obtained by transfecting the cell line with the ATM expression contruct YZ5;line grown in the presence of 100ug/ml hygromycin;corrected cell line

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: AT

characteristic: tag

text: Ataxia-telangiectasia

text: GM16667 female affected Ataxia-telangiectasia sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: 57 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: ND27483 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 4 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;diagnosed at age 4 months;abnormal plasmalogen synthesis enzymes;cataracts;rhizomelic shortening of the limbs and stippled epiphyses;19.2% of control DHAPAT synthase activity;parents are first cousins

text: LEBANESE

characteristic: ethnicity

text: Homo sapiens

text: Caucasian

text: Female

text: GM16678 female affected Rhizomelic chondrodysplasia punctata type 3 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Epilepsy

text: 35 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

text: ND27485 female affected Epilepsy sample


text: Coriell

text: live

text: Generic

text: 5 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: XP12TA;Ashkenazi Jewish;clinically affected;developed skin cancer (basal cell carcinoma) at 2 years of age and died at 10 years of age;skin fibroblasts showed reductions in post-ultraviolet survival (11% of normal);unscheduled DNA synthesis (10% of normal);global genome DNA repair (15% of normal);and plasmid host cell reactivation (5% of normal);affected sister is GM16685;donor subject is homozygous for a 2 bp deletion in exon 5 of the XPC gene (669_670delAT) resulting in premature termination 10 codons downstream (C223fsX233)

characteristic: description

text: POLISH/JEWISH

text: proband

text: XPC

characteristic: gene

text: 2-BP DEL

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: XPC

text: GM16684 male affected Xeroderma pigmentosum, complementation group c sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Epilepsy

text: 12 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Epilepsy

text: ND27497 male affected Epilepsy sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: 3 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: XP25TA;Ashkenazi Jewish;clinically affected;sun protected;developed skin cancer at 10 years of age;by age 24;donor subject had developed 10 skin neoplasms (five basal cell carcinomas;two squamous cell carcinomas;and three melanomas);skin fibroblasts showed reductions in post-ultraviolet survival (11% of normal);unscheduled DNA synthesis (10% of normal);global genome DNA repair (15% of normal);and plasmid host cell reactivation (5% of normal);affected brother is GM16684;donor subject is homozygous for a 2 base pair deletion in exon 5 (del AT669_670) of the XPC gene;which results in a new termination site 10 codons downstream;as well as a functional polymorphic transversion in exon 15 (2920A>C).

text: POLISH/JEWISH

text: sister

text: XPC

text: 2-BP DEL

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

characteristic: tag

text: XPC

text: GM16685 female affected Xeroderma pigmentosum, complementation group c sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 65 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: parent

text: Homo sapiens

text: Caucasian

text: Male

text: ND27499 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 30 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: XPH26TA;Ashkenazi Jewish;mother of two affected children (GM16684 and GM16685) and spouse of GM16687;one allele of the XPC gene carries a 2 bp deletion in exon 5 of the XPC gene (669_670delAT) resulting in premature termination 10 codons downstream (C223fsX233)

characteristic: description

text: POLISH

characteristic: ethnicity

characteristic: family id

text: mother

text: XPC

characteristic: gene

text: 2-BP DEL

text: Homo sapiens

text: Caucasian

text: Female

text: XPC

text: GM16686 female unaffected Xeroderma pigmentosum, complementation group c sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 46 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: parent

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: ND27500 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: 32 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: XPH27TA;Ashkenazi Jewish;father of two affected children (GM16684 and GM16685) and spouse of GM16686;one allele of the XPC gene carries a 2 bp deletion in exon 5 of the XPC gene (669_670delAT) resulting in premature termination 10 codons downstream (C223fsX233)

text: JEWISH

text: father

text: XPC

text: 2-BP DEL

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: XPC

text: GM16687 male unaffected Xeroderma pigmentosum, complementation group c sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 53 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: parent

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

characteristic: tag

text: ND27501 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 75 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Chinese;descendant of individuals from the city of Shanghai in mainland China

characteristic: description

text: CHINESE

characteristic: ethnicity

text: Homo sapiens

text: Chinese

text: Female

text: Human variation panel - chinese (version 2)

text: Chinese population

text: GM16688 female unaffected Chinese population sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 45 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: parent

text: Homo sapiens

characteristic: organism

text: Asian

text: Female

text: ND27520 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: 74 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: CHINESE

text: Homo sapiens

text: Chinese

characteristic: race

text: Male

text: Chinese population

text: GM16689 male unaffected Chinese population sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Epilepsy

text: 14 YR

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

text: ND27521 male affected Epilepsy sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 32 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: XPH133BE;mother of an affected son (GM16692);donor subject has a 2 bp deletion at nucleotide 1744 in exon 8 of the XPC gene (1744_1745delTG) resulting in a frameshift at codon 547 and a stop 25 codons downstream

text: HONDURAN

text: mother

text: XPC

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Hispanic/Latino

text: Female

characteristic: tag

text: XPC

text: GM16690 female unaffected Xeroderma pigmentosum, complementation group c sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Tourette syndrome

text: 12 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND27529 male affected Tourette syndrome sample


text: Coriell

text: live

text: Generic

text: 32 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: XPH133BE;mother of an affected son (GM16693);donor subject has a 2 bp deletion at nucleotide 1744 in exon 8 of the XPC gene (1744_1745delTG) resulting in a frameshift at codon 547 and a stop 25 codons downstream

characteristic: description

text: HONDURAN

characteristic: ethnicity

characteristic: family id

text: mother

text: XPC

text: Homo sapiens

characteristic: organism

text: Hispanic/Latino

text: Female

text: XPC

text: GM16691 female unaffected Xeroderma pigmentosum, complementation group c sample