characteristic: External Id

text: Coriell

text: live

text: Generic

text: LIPASE

text: 5 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Chronic diarrhea;failure to thrive;height at 10th %ile & weight at 50th %ile;somewhat tympanitic abdomen;secretin stimulated pancreatic function test showed deficiency of lipase activity

characteristic: description

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Congenital absence of pancreatic

text: LIPASE

text: GM13343 male affected LIPASE sample


status: PUBLIC

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 59 YR

tag: attribute

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

characteristic: family id

text: parent

text: Homo sapiens

text: More than one race

characteristic: race

text: Male

characteristic: sex

characteristic: tag

text: ND24186 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: LIPASE

text: 2 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Failure to thrive;developmental delay;poor weight gain;gastroesophageal reflux;secretin stimulated pancreatic function test showed deficiency of lipase activity

characteristic: description

text: Homo sapiens

text: Caucasian

text: Male

text: Congenital absence of pancreatic

text: LIPASE

text: GM13344 male affected LIPASE sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 31 YR

text: B-Lymphocyte

text: NINDS Repository

text: French Canadian

characteristic: ethnicity

text: parent

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND24187 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

characteristic: INSDC status

text: Generic

text: Rubinstein-taybi syndrome

text: 7 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Microcephaly;mild facial dysmorphism;upslanting palpebral fissures;broad thumbs and great toes;several fingers have broad distal phalanges;mental retardation;mother;GM13164;is also affected;in situ hybridization showed no deletion

text: daughter

text: Homo sapiens

text: Black

text: Female

text: RSTS

text: Rubinstein-taybi syndrome

text: GM13347 female affected Rubinstein-taybi syndrome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Epilepsy

text: 1 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

text: ND24188 female affected Epilepsy sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: Adrenal hyperplasia ii

text: 5 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Saudi Arabian;hepatomegaly;jaundice;on oral bile acid therapy;in addition to the typical large amounts of sulfated dihydroxy-cholenoic (unsaturated) acid;lrg amounts of unsatur bile alcohol were detected in pts urine;see GM13365 Fibro

text: SAUDI ARABIAN

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Adrenal hyperplasia ii

text: GM13350 male affected Adrenal hyperplasia ii sample


text: Coriell

text: live

text: Generic

text: Epilepsy

text: 22 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Epilepsy

characteristic: tag

text: ND24189 male affected Epilepsy sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Glucosidase acid alpha

text: 7 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Hepatomegaly;cardiomegaly;hypotonia;muscle biopsy showed no detectable acid alpha-1;4 glucosidase;GAA;activity;donor subject is homozygous for a missense mutation caused by a G>A transition at nucleotide 1561 in exon 11 of the GAA gene (1561G>A) which results in the substitution of lysine for glutaminc acid at codon 521 Glu521Lys (E521K);three amino acids downstream from the catalytic site of the enzyme at Asp518.

characteristic: description

text: GAA

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Asiatic Indian

text: Female

text: Glucosidase acid alpha

text: GAA

text: Glycogen storage disease ii

text: GM13352 female affected Glucosidase acid alpha sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 32 YR

text: B-Lymphocyte

text: NINDS Repository

text: parent

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: ND24190 male 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

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Son

text: UTAH/MORMON

characteristic: ethnicity

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 1356

text: GM13355 male unaffected Ceph/utah pedigree 1356 sample


text: Coriell

text: live

text: Generic

text: Epilepsy

text: 20 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Epilepsy

characteristic: tag

text: ND24191 male affected Epilepsy sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Myotubular myopathy 1

text: 54 DA

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Polyhydramnios prenatally;severe respiratory distress and poor muscular activity postnatally;no reflexes;myopathic facies;typical light microscope muscle biospy findings include single central nucleii;myofiber atrophy;and myotube-like central canals;4 affected pedigree generations

characteristic: description

text: Homo sapiens

text: Caucasian

text: Male

text: Myotubular myopathy 1

text: GM13360 male affected Myotubular myopathy 1 sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 54 YR

text: B-Lymphocyte

text: NINDS Repository

text: parent

text: Homo sapiens

text: Caucasian

text: Female

text: ND24192 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: MPZ

text: 32 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Type 1b;marked peripheral neuropathy with slow nerve conduction velocities;pedigree shows 8 affecteds in 4 generations;heterozygous for a C to A mutation at position 270 (270C>A) Asp90Glu (D90E) in myelin glucoprotein P-zero P(0) gene

text: IRISH

text: MPZ

characteristic: gene

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Myelin protein zero

text: Charcot-marie-tooth disease 1b

text: MPZ

text: GM13363 female affected MPZ sample


text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 43 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

characteristic: family id

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND24193 male affected Tourette syndrome sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: Adrenal hyperplasia ii

text: 5 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Saudi Arabian;hepatomegaly;jaundice;on oral bile acid therapy;in addition to the typical large amounts of sulfated dihydroxy-cholenoic (unsaturated) acid;large amounts of unsaturated bile alcohol were detected in patient's urine

text: SAUDI ARABIAN

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Adrenal hyperplasia ii

characteristic: tag

text: GM13365 male affected Adrenal hyperplasia ii sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 45 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND24194 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: XPG

text: 2 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: XPCS2LV;clinical characteristics of Cockayne syndrome with biochemical defect typical of XP;severe psychomotor retardation and microcephaly;dysplastic ears;large extremities;absent visual and auditory-evoked potentials;salt-and-pepper retinal pigmentation;donor subject is a compound heterozygote: one allele has a 1 bp deletion in an AAA triplet at nucleotides 2170_2172 of the ERCC5 gene resulting in a TGA stop codon after amino acid 659 (fs660Ter)and a second allele has a C>T transition at nucleotide 984 (984C>T) resulting in the substitution of a termination signal for arginine at codon 263 Arg263Ter (R263X)

characteristic: description

text: FLEMISH

text: proband

characteristic: gene

characteristic: mutation

text: 1-BP DEL

text: Homo sapiens

text: Caucasian

text: Male

text: Xeroderma pigmentosum, complementation group g

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

text: XPG

text: GM13370 male affected XPG sample


text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 14 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: unsure when he was first dx and dont know who by

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Tourette syndrome

text: ND24195 male affected Tourette syndrome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: XPG

text: 5 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: XPCS1LV;clinical characteristics of Cockayne syndrome with biochemical defect typical of XP;severe psychomotor retardation;microcephaly;skin very sensitive to sunlight;salt-and-pepper retinal pigmentation;retinal artery narrowing;donor subject is homozygous for a 1 bp deletion in an AAA triplet at nucleotides 2170_2172 of the ERCC5 gene resulting in a TGA stop codon after amino acid 659 (fs660Ter)

text: FLEMISH

characteristic: ethnicity

text: proband

text: 1-BP DEL

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

characteristic: tag

text: XPG

text: GM13371 female affected XPG sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Tourette syndrome

text: 17 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND24205 male affected Tourette syndrome sample

characteristic: title


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Homocystinuria due to deficiency of n(5

text: 20 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Dementia;seizures;stroke;vascular thrombosis;obesity;well below normal levels of methylenetetrahydrofolate reductase

characteristic: description

text: SAUDI ARABIAN

text: Homo sapiens

text: Caucasian

text: Female

text: Homocystinuria due to deficiency of n(5

text: 10)-methylenetetrahydrofolate reductase activity

text: GM13395 female affected Homocystinuria due to deficiency of n(5 sample


text: Coriell

text: live

text: Generic

text: 47 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND24206 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Glycogen storage disease ii

text: 24 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;absent acid-alpha-1;4 glucosidase activity;donor subject is a compound heterozygote: one allele has a C>A transversion at position -3 of the acceptor site of intron 1 of the GAA gene (c.-32-3C>A);the second allele has a 1 bp deletion at nucleotide 525 in exon 2 (c.525delT) resulting in a frameshift and premature termination of the protein Glu176fsX45)

text: GAA

characteristic: gene

characteristic: mutation

text: 1-BP DEL

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Glycogen storage disease ii

text: GM13408 female affected Glycogen storage disease ii sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Tourette syndrome

text: 54 YR

text: B-Lymphocyte

text: NINDS Repository

text: Ashkenazi Jewish and Non-Ashkenazi Jewish

characteristic: ethnicity

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Tourette syndrome

characteristic: tag

text: ND24210 male affected Tourette syndrome sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Glycogen storage disease ii

text: 28 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: GAA

text: 1-BP DEL

text: Homo sapiens

text: Caucasian

text: Female

text: Glycogen storage disease ii

text: GM13409 female affected Glycogen storage disease ii sample

characteristic: title


text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 49 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Tourette syndrome

text: ND24211 female affected Tourette syndrome sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: 25 DA

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Abnormal male external genitalia;congenital heart disease including ASD;VSD;& AP window;46;XY;der(20)t(14;20) (20pter>20q13.3::14q32.1>14qter)pat

characteristic: description

text: HISPANIC

text: 46;XY;der(20)(20pter>20q13.3:: 14q32.1>14qter)pat;46;XY;der(20)t(14;20) (20pter>20q13.3::14q32.1>14qter)pat

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Translocated chromosome

text: GM13410 unknown unaffected Copy number variation (cnv) refernece panel 02 sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Tourette syndrome

text: 17 YR

text: B-Lymphocyte

text: NINDS Repository

text: Ashkenazi and Sephardic Jewish

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Tourette syndrome

text: ND24212 male affected Tourette syndrome sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Atp synthase 6

text: 8 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Chinese;Leigh syndrome and hypertrophic cardiomyopathy;developmental delay;hypotonia;recurrent lactic acidosis;skeletal muscle and fibroblasts show 8993T>G mtDNA point mutation in ATPase 6 gene;MTATP6 Leu156Arg (L156R)

text: CHINESE

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Asian

text: Male

characteristic: sex

text: Leigh syndrome

characteristic: tag

text: Atp synthase 6

text: GM13411 male affected Atp synthase 6 sample


text: Coriell

text: live

text: Generic

text: Epilepsy

text: 34 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

text: ND24213 female affected Epilepsy sample

characteristic: title


characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Beckwith-wiedemann syndrome

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: 46;XX in lymphoblasts;hemihypertrophy and organomegaly (left>right) of leg;kidney;face and tongue;macroglossia;multiple ear pits and creases posteriorly;capillary hemangioma on forehead;birth weight 8 lbs 15 oz

characteristic: description

text: proband

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Beckwith-wiedemann syndrome

text: BWS

text: GM13415 female affected Beckwith-wiedemann syndrome sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 32 YR

text: B-Lymphocyte

text: NINDS Repository

text: parent

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: ND24214 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected mother of affected child (GM13415);spouse also affected

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Beckwith-wiedemann syndrome

characteristic: tag

text: BWS

text: GM13416 female unaffected Beckwith-wiedemann syndrome sample


text: Coriell

text: live

text: Generic

text: 31 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

characteristic: family id

text: parent

text: Homo sapiens

text: Asian

text: Male

text: ND24216 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected spouse of GM13419;affected grandchild is GM13415

text: paternal grandmother

text: Homo sapiens

text: Caucasian

text: Female

text: Beckwith-wiedemann syndrome

text: BWS

text: GM13418 female unaffected Beckwith-wiedemann syndrome sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Epilepsy

text: 1 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy

text: ND24217 male affected Epilepsy sample


text: Coriell

text: live

text: Generic

text: Beckwith-wiedemann syndrome

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Large hands and feet;tall;macroglossia;affected grandchild is GM13415

characteristic: description

text: paternal grandfather

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Beckwith-wiedemann syndrome

text: BWS

text: GM13419 male affected Beckwith-wiedemann syndrome sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Epilepsy

text: 5 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Female

text: Epilepsy

text: ND24218 female affected Epilepsy sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: CF

text: 22 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Normal sweat chloride;mild lung disease;diagnosed at a late age with abdominal pain;malabsorption;bronchitis;and nasal polyps;CFTR genotype is GLY85GLU (G85E)/ASP1152HIS (D1152H)

text: HISPANIC

characteristic: ethnicity

text: CFTR

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: CF

text: Cystic fibrosis

text: Cystic fibrosis transmembrane conductance regulator

text: CFTR

text: GM13423 female affected CF sample


text: Coriell

text: live

text: Generic

text: 54 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: father

text: Homo sapiens

text: Asian

characteristic: race

text: Male

characteristic: sex

characteristic: tag

text: ND24225 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Ehlers-danlos syndrome type vi

text: 7 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Mexican-American;hemifacial asymmetry & disloc of wrist & hip at birth;myopia;hyperextensible;soft & velvety skin;& hypotrophic wound healing at age 6;lysyl hydroxylase/prolyl hydroxylase is 24% of norm;donor subject is a compound heterozygote: one allele has a 3 bp deletion of the lysyl hydroxylase (PLOD1) gene that resulted in loss of residue glu532 Glu532Del and the second allele has a G>A change that produced a gly678-to-arg codon change in a highly conserved region of the enzyme

characteristic: family id

text: proband

text: 3-BP DEL

text: Homo sapiens

text: Caucasian

text: Male

text: Procollagen-lysine, 2-oxoglutarate 5-dioxygenase

text: Ehlers-danlos syndrome type vi

text: GM13425 male affected Ehlers-danlos syndrome type vi sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 51 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

characteristic: organism

text: Asian

text: Female

text: ND24226 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 32 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;fibroblast lysyl hydroxylase/prolyl hydroxylase is 86% of normal;mother of GM13425;one allele has a 3 bp deletion of the lysyl hydroxylase (PLOD1) gene that resulted in loss of residue glu532 Glu532Del

characteristic: description

text: mother

characteristic: gene

text: 3-BP DEL

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Ehlers-danlos syndrome type vi

text: GM13426 female unaffected Ehlers-danlos syndrome type vi sample


text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 26 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Tourette syndrome

text: ND24227 male affected Tourette syndrome sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 40 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;fibroblast lysyl hydroxylase/prolyl hydroxylase is 52% of normal;passage 4 at CCR;father of GM13425;one allele has a G>A change in the lysyl hydroxylase (PLOD1) gene that produced a gly678-to-arg codon change in a highly conserved region of the enzyme

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

characteristic: tag

text: Ehlers-danlos syndrome type vi

text: GM13427 male unaffected Ehlers-danlos syndrome type vi sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 50 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND24228 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Masa syndrome

text: 35 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Developmental delay;mental retardation;adducted thumbs;20 affected males in kindred

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Masa syndrome

text: GM13428 male affected Masa syndrome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 45 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND24229 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 39 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: proband

text: 46;XY;t(6;11)(6pter>6q16.2::11q14.1> 11qter;11pter>11q14.1::6q16.2>6qter)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Translocated chromosome

text: GM13430 male unaffected Translocated chromosome sample


text: Coriell

text: live

text: Generic

text: Epilepsy

text: 55 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy

text: ND24230 male affected Epilepsy sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: 12 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;typical connatal Pelizaeus-Merzbacher disease;donor subject is hemizygous for a C>T transition at nucleotide 40 in exon 2 of the PLP1 gene 40C>T resulting in a substitution of leucine for proline at codon 14 Pro14Leu (P14L) .

characteristic: description

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: PMD

text: Proteolipid protein 1

text: Pelizaeus-merzbacher disease

text: GM13433 male affected PLP1 sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 77 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: parent

text: Homo sapiens

text: African American

text: Male

characteristic: sex

characteristic: tag

text: ND24232 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 17 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;jerky eye movements about age 3 months;head bobbing;rotary nystagmus;developmental delay;moderate hypotonia;truncal titubation;dysmetria and tremor;donor subject is hemizygous for a C>G transversion at nucleotide 381 in exon 3 of the PLP1 gene 381C>G resulting in the retention of glycine at codon 127 Gly127Gly (G127G) .

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: PMD

text: Proteolipid protein 1

text: Pelizaeus-merzbacher disease

text: GM13435 male affected PLP1 sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 76 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: parent

text: Homo sapiens

text: More than one race

text: Female

text: ND24233 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 7 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;nystagmus from birth;respiratory difficulty noted at one month of age;BSAER showed extremely slow conduction velocity with only waves 1 and 2 present bilaterally;MRI scan at age 13 months was extremely abnormal with poor myelination of white matter;EMG showed no involvement of peripheral nervous system;at age 4 years;subject unable to sit;speak;or feed himself;donor subject is hemizygous for a C>T transition at nucleotide 125 in exon 2 of the PLP1 gene 125C>T resulting in a substitution of isoleucine for threonine at codon 42 Thr42Ile (T42I) .

characteristic: description

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: PMD

text: Proteolipid protein 1

text: Pelizaeus-merzbacher disease

text: GM13436 male affected PLP1 sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 27 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: ND24235 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Hyperglycinemia

text: 10 DA

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Profound hypotonia;elevated CSF glycine;see GM13440 Fibroblast

text: JORDANIAN

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Hyperglycinemia

characteristic: tag

text: Isolated nonketotic type i

text: GM13439 female affected Hyperglycinemia sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Ischemic stroke

text: 51 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Ischemic stroke

text: ND24236 male affected Ischemic stroke sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Hyperglycinemia

text: 10 DA

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Profound hypotonia;elevated CSF glycine;see GM13439 Lymphoid

characteristic: description

text: JORDANIAN

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Hyperglycinemia

text: Isolated nonketotic type i

text: GM13440 female affected Hyperglycinemia sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 52 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: spouse

text: Homo sapiens

text: Other

text: Female

text: ND24237 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 14 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Craniosynostosis;mental retardation;camptodactyly;micrognathia

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: GM13441 male affected Shprintzen-goldberg craniosynostosis syndrome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Parkinson disease

text: 46 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinson disease

text: ND24241 male affected Parkinson disease sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: Glycogen storage disease ii

text: 8 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Late childhood onset;progressive generalized muscle weakness;receiving high protein & exercise therapy;gastrointestinal problems;muscle biopsy showed about 7% of normal acid maltase activity

text: Homo sapiens

text: Caucasian

text: Male

text: Glycogen storage disease ii

characteristic: tag

text: GM13450 male affected Glycogen storage disease ii sample


text: Coriell

text: live

text: Generic

text: 39 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND24242 female unaffected Population/convenience control sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Williams-beuren syndrome

text: 11 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Feeding difficulty;hyperverbal speech;good long-term memory;characteristic facial features;VSD;frequent urination;strong attraction to music/perfect pitch;petit mal seizures;hypereflexia;hoarse voice;long trunk

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

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Williams-beuren syndrome

text: WBS

text: GM13460 female affected Williams-beuren syndrome sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Parkinson disease

text: 72 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Parkinson disease

text: ND24243 female affected Parkinson disease sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Williams-beuren syndrome

text: 12 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Failure to thrive;prolonged colic;hyperverbal speech;good long-term memory;characteristic facial features;supravalvular stenosis;joint limitation;abnormal gait;frequent urination;strong attraction to music/perfect pitch

characteristic: description

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

text: Homo sapiens

text: Caucasian

text: Male

text: Williams-beuren syndrome

text: WBS

text: GM13461 male affected Williams-beuren syndrome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 79 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Population/convenience control

text: ND24244 male unaffected Population/convenience control sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: Williams-beuren syndrome

text: 11 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Gastrointestinal problems;good longterm memory;characteristic facial features;vascular stenoses;long trunk;hallux valgus;soft;velvety skin;frequent urination;early puberty;neither chromo 7 shows elastin gene deletion

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

text: Homo sapiens

text: Caucasian

text: Female

text: Williams-beuren syndrome

characteristic: tag

text: WBS

text: GM13463 female affected Williams-beuren syndrome sample


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

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND24246 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 4 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Feeding difficulty;prolonged colic;good long-term memory;characteristic facial features;abnorm gait;soft;velvety skin;frequent urination;strong attraction to music/perfect pitch;preoccupation with spinning/rhythmic movemnts

text: 46;XY.ish del(7)(pter>q11.23::q11.23>qter)(ELN-);46;XY.ish del(7)(q11.23q11.23)(ELN-).arr 7q11.23(72363697-73780028)x1

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Williams-beuren syndrome

text: WBS

text: GM13464 male affected Copy number variation (cnv) reference panel sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 47 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: mother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: ND24247 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: Williams-beuren syndrome

text: 8 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Atypical;nonverbal;charac facial features;no cardiovascular defects;no hypercalcemia;joint limitation;strong attraction to music/perfect pitch;preoccupation with spinning/rhythmic movements;neg for elastin gene deletion

characteristic: description

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

text: Homo sapiens

text: Caucasian

text: Female

text: Williams-beuren syndrome

text: WBS

text: GM13465 female affected Williams-beuren syndrome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 13 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Tourette syndrome

text: ND24248 male affected Tourette syndrome sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Williams-beuren syndrome

text: 15 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Gastrointestinal problems;hyperverbal speech;good long-term memory;characteristic facial features;peripheral pulmonary stenosis;prominent veins/muscles;strong attraction to music/perfect pitch;preoccupation with spinning/rhythmic movements

text: Homo sapiens

text: Caucasian

text: Male

text: Williams-beuren syndrome

characteristic: tag

text: WBS

text: GM13466 male affected Williams-beuren syndrome sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 73 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: MOTHER WITH STROKE;SAMPLE NOT IN REPOSITORY

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: ND24251 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: Williams-beuren syndrome

text: 32 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Gastrointestinal problems;hyperverbal speech;good long-term memory;characteristic facial features;joint limitation;abnormal gait;hypospadias;frequent urination;strong attraction to music/perfect pitch

text: proband

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

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Williams-beuren syndrome

text: WBS

text: GM13467 male affected Williams-beuren syndrome sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Epilepsy

text: 14 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy

text: ND24252 male affected Epilepsy sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Williams-beuren syndrome

text: 32 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Gastrointestinal problems;hyperverbal speech;good long-term memory;characteristic facial features;cardiac defect;joint limitation;abnormal gait;hypospadias;frequent urination;strong attraction to music/perfect pitch

text: twin brother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Williams-beuren syndrome

text: WBS

text: GM13468 male affected Williams-beuren syndrome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 48 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND24253 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Williams-beuren syndrome

text: 9 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Gastrointestinal problems;hyperverbal speech;good long-term memory;characteristic facial features;frequent urination;strong attraction to music/perfect pitch;early puberty;hoarse voice;long trunk

characteristic: description

text: 46;XX.arr 7q11.23(72363696-73779430)x1;46;XX.ish del(7)(pter>q11.23::q11.23>qter)(ELN-)

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Williams-beuren syndrome

text: WBS

text: GM13470 female affected Williams-beuren syndrome sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 50 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: ND24254 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: Williams-beuren syndrome

text: 6 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Gastrointestinal problems;hyperverbal speech;good long-term memory;characteristic facial features;hoarse voice;long trunk;hypereflexia;long neck/ sloped shoulders

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

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Williams-beuren syndrome

text: WBS

text: GM13471 female affected Williams-beuren syndrome sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Epilepsy

text: 18 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

text: ND24256 female affected Epilepsy sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Williams-beuren syndrome

text: 3 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Gastrointestinal problems;good longterm memory;characteristic facial features;joint limitation;hypercalcemia;soft/velvety skin;strong attraction to music/perfect pitch;language and motor delay

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Williams-beuren syndrome

text: WBS

text: GM13472 female affected Williams-beuren syndrome sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 47 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND24257 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Williams-beuren syndrome

text: 25 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Gastrointestinal problems;hyperverbal speech;good long-term memory;characteristic facial features;supravalvular aortic stenosis;joint limitation;abnormal gait;frequent urination;strong attraction to music/perfect pitch

characteristic: description

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Williams-beuren syndrome

text: WBS

text: GM13473 female affected Williams-beuren syndrome sample


text: Coriell

text: live

text: Generic

text: 47 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND24258 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: Williams-beuren syndrome

text: 7 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Feeding difficulty;hyperverbal speech;good long-term memory;characteristic facial features;vascular stenoses;sacral crease;soft;velvety skin;frequent urination;strong attraction to music/perfect pitch

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

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Williams-beuren syndrome

text: WBS

text: GM13474 male affected Williams-beuren syndrome sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 48 YR

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND24268 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Williams-beuren syndrome

text: 29 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Gastrointestinal problems;hyperverbal speech;good long-term memory;characteristic facial features;supravalvular aortic stenosis;frequent urination;strong attraction to music/perfect pitch;premature graying

text: Homo sapiens

text: Caucasian

text: Male

text: Williams-beuren syndrome

text: WBS

text: GM13475 male affected Williams-beuren syndrome sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 28 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: parent

text: Homo sapiens

text: Asian

characteristic: race

text: Male

text: ND24283 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 13 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Originally diagnosed as Williams syndrome;clinical description unavailable;del(17) confirmed by FISH

characteristic: description

text: 46;XX.ish del(17)(p11.2)(D17S29-).arr 17p11.2(16704280-20336467)x1;46;XX.ish del(17)(pter>p11.2::p11.2>qter) (D17S29-)

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Smith-magenis syndrome

text: SMS

text: GM13476 female affected Copy number variation (cnv) reference panel sample


text: Coriell

text: live

text: Generic

text: 40 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: parent

text: Homo sapiens

text: More than one race

text: Female

characteristic: tag

text: ND24285 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Williams-beuren syndrome

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

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

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Williams-beuren syndrome

text: WBS

text: GM13477 male affected Williams-beuren syndrome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Epilepsy

text: 3 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Other

text: Male

text: Epilepsy

text: ND24290 male affected Epilepsy sample

characteristic: title


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: Williams-beuren syndrome

text: 29 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Gastrointestinal problems;hyperverbal speech;good long-term memory;characteristic facial features;strong attraction to music/perfect pitch;premature graying;hallux valgus;soft/velvety skin

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

text: Homo sapiens

text: Caucasian

text: Female

text: Williams-beuren syndrome

text: WBS

text: GM13478 female affected Williams-beuren syndrome sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Epilepsy

text: 13 MO

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Epilepsy

text: ND24291 female affected Epilepsy sample


text: Coriell

text: live

text: Generic

text: Williams-beuren syndrome

text: 38 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Gastrointestinal problems;good longterm memory;characteristic facial features;hypertension;abnormal gait;frequent urination;strong attraction to music/perfect pitch;premature graying;soft/velvety skin

characteristic: description

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Williams-beuren syndrome

text: WBS

text: GM13479 female affected Williams-beuren syndrome sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 31 YR

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: ND24292 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

text: Williams-beuren syndrome

text: 23 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Gastrointestinal problems;hyperverbal speech;good long-term memory;characteristic facial features;hoarse voice;long neck/sloped shoulders

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Williams-beuren syndrome

text: WBS

text: GM13480 female affected Williams-beuren syndrome sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 23 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND24293 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Williams-beuren syndrome

text: 10 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Gastrointestinal problems;hyperverbal speech;good long-term memory;characteristic facial features;supravalvular stenosis;joint limitation;abnormal gait;frequent urination;early puberty;prominent veins/muscles

text: Homo sapiens

text: Caucasian

text: Female

text: Williams-beuren syndrome

text: WBS

text: GM13481 female affected Williams-beuren syndrome sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 68 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: brother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Parkinson disease

text: ND24295 male affected Parkinson disease sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: Williams-beuren syndrome

text: 24 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Gastrointestinal problems;hyperverbal speech;good long-term memory;characteristic facial features;supravalvular aortic stenosis;hypercalcemia;frequent urination;strong attraction to music/ perfect pitch

characteristic: description

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Williams-beuren syndrome

text: WBS

text: GM13482 female affected Williams-beuren syndrome sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Tourette syndrome

text: 46 YR

text: B-Lymphocyte

text: NINDS Repository

text: Jewish

characteristic: ethnicity

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

characteristic: tag

text: ND24297 male affected Tourette syndrome sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Williams-beuren syndrome

text: 16 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Gastrointestinal problems;hyperverbal speech;good long-term memory;characteristic facial features;supravalvular stenosis;Ebstein anomaly cardiac defect;abnormal gait;frequent urination

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

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Williams-beuren syndrome

text: WBS

text: GM13483 male affected Williams-beuren syndrome sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 42 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Jewish

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND24298 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

text: live

text: Generic

text: Williams-beuren syndrome

text: 21 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Gastrointestinal problems;hyperverbal speech;good long-term memory;characteristic facial features;mitral valve prolapse;joint limitation;frequent urination;strong attraction to music/ perfect pitch;soft/velvety skin

characteristic: description

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

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Williams-beuren syndrome

text: WBS

text: GM13484 female affected Williams-beuren syndrome sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Tourette syndrome

text: 12 YR

text: B-Lymphocyte

text: NINDS Repository

text: Jewish

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Tourette syndrome

text: ND24299 female affected Tourette syndrome sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: Williams-beuren syndrome

text: 4 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Gastrointestinal problems;hyperverbal speech;characteristic facial features;hyperacusis;motor delay;hoarse voice;long neck/sloped shoulders;frequent urination;strong attraction to music/perfect pitch;preoccupation with spinning

text: Homo sapiens

text: Caucasian

text: Male

text: Williams-beuren syndrome

characteristic: tag

text: WBS

text: GM13485 male affected Williams-beuren syndrome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Parkinsonism, other

text: 72 YR

text: B-Lymphocyte

text: NINDS Repository

text: German;Dutch

characteristic: ethnicity

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Progressive supranuclear palsy

text: Parkinsonism, other

text: ND24300 male affected Parkinsonism, other sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Williams-beuren syndrome

text: 15 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

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

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Williams-beuren syndrome

text: WBS

text: GM13486 female affected Williams-beuren syndrome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 69 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: German;Irish

text: wife

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Population/convenience control

text: ND24301 female unaffected Population/convenience control sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Williams-beuren syndrome

text: 41 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Gastrointestinal problems;hyperacusis;motor and language delay;characteristic facial features;cardiac defect;joint limitation;abnormal gait;soft/velvety skin;strong attraction to music/perfect pitch

characteristic: description

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Williams-beuren syndrome

text: WBS

text: GM13487 female affected Williams-beuren syndrome sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: Epilepsy

text: 12 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: More than one race

text: Female

text: Epilepsy

characteristic: tag

text: ND24318 female affected Epilepsy sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Williams-beuren syndrome

text: 14 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Chronic constipation;hyperverbal speech;good long-term memory;characteristic facial features;supravalvular stenosis;joint limitation;abnormal gait;frequent urination;early puberty;soft/velvety skin

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Williams-beuren syndrome

text: WBS

text: GM13488 female affected Williams-beuren syndrome sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Epilepsy

text: 9 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: sibling

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

text: ND24319 female affected Epilepsy sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Williams-beuren syndrome

text: 24 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Gastrointestinal problems;hyperverbal speech;good long-term memory;characteristic facial features;supravalvular stenosis;hypertension;joint limitation;abnormal gait;frequent urination;early puberty;soft/velvety skin

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Williams-beuren syndrome

text: WBS

text: GM13489 female affected Williams-beuren syndrome sample


text: Coriell

text: live

text: Generic

text: Epilepsy

text: 13 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Epilepsy

text: ND24320 male affected Epilepsy sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Denys-drash syndrome

text: 1 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Bilateral gonadal neoplasia;glomerulosclerosis;acute renal failure at age 5 mo;46;XY in testicular tumor tissue;culture was established from turnica albuginea tissue

characteristic: description

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: DDS

text: Denys-drash syndrome

text: GM13495 male affected Denys-drash syndrome sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: Epilepsy

text: 9 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: sibling

text: Homo sapiens

text: More than one race

text: Male

text: Epilepsy

text: ND24321 male affected Epilepsy sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Adrenoleukodystrophy

text: 9 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Diagnosed at age 7 with hx of vomiting;diarrhea;anorexia;lethargy;& weight loss;hyperactive;shows perseveration;appears to be cortically blind;exhibits echolalia;early signs of dementia;elevated very-long chain fatty acids;C26:0 is 2.3 times the mean of control values

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Adrenoleukodystrophy

characteristic: tag

text: ALD

text: GM13496 male affected Adrenoleukodystrophy sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Epilepsy

text: 29 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: sibling

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Epilepsy

text: ND24322 female affected Epilepsy sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 35 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically unaffected;1 affected son;a sister;at age 33;exhibited behavioral changes & was placed in nursing home

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Adrenoleukodystrophy

text: ALD

text: GM13497 female unaffected Adrenoleukodystrophy sample


text: Coriell

text: live

text: Generic

text: Progressive supranuclear palsy

text: 64 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Progressive supranuclear palsy

text: ND24325 male affected Progressive supranuclear palsy sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Glycogen storage disease ii

text: 4 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;classic infantile type;marked cardiomegaly;cardiomyopathy;cardiac failure;muscle weakness;respiratory insufficiency;muscle biopsy showed acid maltase deficiency;expired at age 6 mo;donor subject is a compound heterozygote: one allele has a G>A transition at nucleotide 1979 of the GAA gene (c.1979G>A) resulting in the substitution of histidine for arginine at codon 660 Arg660His (R660H);the second allele has a C>T transition at nucleotide 2560 in exon 18 (c.2560C>T) resulting in a stop at codon 854 Arg854Ter (R854X)

text: GAA

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Black

text: Male

text: Glycogen storage disease ii

text: GM13522 male affected Glycogen storage disease ii sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: 59 YR

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Population/convenience control

text: ND24326 female unaffected Population/convenience control sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Glycogen storage disease ii

text: 50 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Deficient acid-alpha-1;4 glucosidase activity (1%)

characteristic: description

text: Homo sapiens

text: Caucasian

text: Female

text: Glycogen storage disease ii

text: GM13527 female affected Glycogen storage disease ii sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Epilepsy

text: 22 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: sibling

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Epilepsy

characteristic: tag

text: ND24328 male affected Epilepsy sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 69 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Onset at age 66;thin;frail;generalized weakness & wasting;tendon reflexes are overactive with positive Babinski signs;similarly affected sister expired at age 65;SSCP analysis and sequencing of SOD-1 was normal for this line

text: IRISH

characteristic: ethnicity

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Amyotrophic lateral sclerosis 1

text: GM13531 female affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 34 YR

text: B-Lymphocyte

text: NINDS Repository

text: parent

text: Homo sapiens

text: Caucasian

text: Male

text: ND24329 male 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: 64 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: NIDDM;renal failure;CHD;heterozygous for Glu279Gln (E279Q) glucokinase (GCK) gene mutation

text: GCK

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Black

text: Female

characteristic: sex

text: Glucokinase

text: Maturity onset diabetes of the young type ii

text: GCK

text: GM13532 female affected MODY2 sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 30 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: parent

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: tag

text: ND24330 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 60 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Ataxia;6 affected generations in pedigree;analysis of ATXN1 (ATX1) alleles showed normal allele with 31 CAG repeats and expanded allele with 43 repeats

characteristic: description

text: proband

text: (CAG)n EXPANSION

text: Homo sapiens

text: Black

text: Female

text: Ataxin 1

text: Spinocerebellar ataxia 1

text: GM13536 female affected SCA1 sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 43 YR

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: ND24331 male 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: 37 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Ataxia;dysarthria;amyotrophy;dysphagia;analysis of ATXN1 (ATX1) alleles showed normal allele with 32 CAG repeats and expanded allele with 60 repeats

text: cousin

characteristic: gene

text: (CAG)n EXPANSION

characteristic: mutation

text: Homo sapiens

text: Black

text: Male

text: Ataxin 1

text: Spinocerebellar ataxia 1

text: GM13537 male affected SCA1 sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Tourette syndrome

text: 16 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

characteristic: sex

text: Tourette syndrome

text: ND24332 male affected Tourette syndrome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Vertebral anomalies

text: 5 MO

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Spondylothoracic dysostosis;malsegmentation of the spine;numerous hemivertebrae;crab thorax;lordosis

text: HISPANIC

characteristic: ethnicity

text: Homo sapiens

text: Caucasian

text: Female

text: Vertebral anomalies

characteristic: tag

text: GM13539 female affected Vertebral anomalies sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 36 YR

text: B-Lymphocyte

text: NINDS Repository

text: parent

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: ND24344 male 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: 27 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Developmental delay;large head;antimongoloid slant;upturned nose;large mouth;broad neck;low hairline;hypotonia;short terminal phalanges

characteristic: description

text: 46;XX;der(8)(:p12>p23.1::p23.1>qter).ish der(8)(D8S2333-;RP4-580L5-;RP11-666I19-;RP11-90O17++;RP11-89M8++;RP11-138J2++)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Derivative chromosome

text: GM13540 female unaffected Derivative chromosome sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 27 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: parent

text: Homo sapiens

characteristic: organism

text: More than one race

text: Female

characteristic: sex

text: ND24345 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Glycogen storage disease ii

text: 33 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;deficient acid-alpha-1;4 glucosidase activity (4%);donor subject is a compound heterozygote: one allele has a G>A transition at nucleotide 1548 in exon 10 of the GAA gene (c.1548G>A) resulting in a stop at codon 516 Trp516Ter (W516X);the second allele has an A>G transition at nucleotide 1559 in exon 11 (c.1559A>G) resulting in the substitution of serine for asparagine at codon 520 Asn520Ser (N520S)

text: GAA

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Glycogen storage disease ii

text: GM13544 male affected Glycogen storage disease ii sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Epilepsy

text: 1 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Epilepsy

characteristic: tag

text: ND24346 male affected Epilepsy sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 10 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Amish;similarly affected brother;infantile icterus;intrahepatic cholestasis;chronic FTT;consanguineous parents;2 siblings with nemaline myopathy

characteristic: description

text: AMISH

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Cholestasis, progressive familial intrahepatic 1

text: Nemaline myopathy 2 autosomal recessive

text: GM13550 male affected NEM2 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 61 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: brother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

characteristic: sex

text: Parkinson disease

text: ND24350 male affected Parkinson disease sample


text: Coriell

text: live

text: Generic

text: 33 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

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

text: AMISH

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Nemaline myopathy 2 autosomal recessive

text: GM13551 female unaffected NEM2 sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Intracerebral hemorrhage

text: 53 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: African American

text: Male

text: Intracranial aneurysm - unruptured

text: Intracerebral hemorrhage

text: ND24354 male affected Intracerebral hemorrhage sample


text: Coriell

text: live

text: Generic

text: 34 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: AMISH

text: father

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: tag

text: Nemaline myopathy 2 autosomal recessive

text: GM13552 male unaffected NEM2 sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 71 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: African American

text: Female

text: ND24355 female 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: SNRPN

text: 17 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Typical features of PWS;negative family history;has paternal deletion of exon alpha of SNRPN which occurs within a differentially methylated CpG island and causes altered methylation and loss of paternal expression over hundreds of kb;same subject as GM12134 (sampled at age 15 years)

characteristic: description

text: proband

text: SNRPN

characteristic: gene

text: DEL PATERNAL EXON ALPHA

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: SNRPN

text: Small nuclear ribonucleoprotein polypeptide n

text: PWS

text: Prader-willi syndrome

text: GM13553 male affected SNRPN sample


text: Coriell

text: live

text: Generic

text: 50 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

characteristic: sex

text: ND24356 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

characteristic: INSDC status

text: Generic

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Asymptomatic;2 affected children;has maternal deletion of exon alpha of SNRPN which occurs within a differentially methylated CpG island

text: father

text: SNRPN

text: DEL MATERNAL EXON ALPHA

text: Homo sapiens

text: Caucasian

text: Male

text: SNRPN

text: PWS

text: Prader-willi syndrome

text: GM13554 male unaffected SNRPN sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

text: Epilepsy

text: 0 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Other

characteristic: race

text: Male

text: Epilepsy

characteristic: tag

text: ND24360 male affected Epilepsy sample

characteristic: title


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: SNRPN

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Typical features of PWS;similarly affected sib;has paternal deletion of exon alpha of SNRPN which occurs within a differentially methylated CpG island and causes altered methylation and loss of paternal expression over hundreds of kb

characteristic: description

text: proband

text: SNRPN

characteristic: gene

text: DEL PATERNAL EXON ALPHA

text: Homo sapiens

text: Caucasian

text: Male

text: SNRPN

text: PWS

text: Prader-willi syndrome

text: GM13555 male affected SNRPN sample


text: Coriell

text: live

text: Generic

text: 49 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND24381 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

characteristic: INSDC status

text: Generic

text: SNRPN

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Typical features of PWS;has paternal deletion of exon alpha of SNRPN which occurs within a differentially methylated CpG island and causes altered methylation and loss of paternal expression over hundreds of kb

text: sister

text: SNRPN

text: DEL PATERNAL EXON ALPHA

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: SNRPN

text: PWS

text: Prader-willi syndrome

text: GM13556 female affected SNRPN sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

text: 73 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: father

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: ND24382 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 package

text: Glycogen storage disease ii

text: 39 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;adult onset;generalized muscle weakness and wasting;restrictive respiratory disease;ventilation dependent at night;acid maltase deficiency confirmed in muscle biopsy;donor subject is a compound heterozygote: one allele has a T>G transversion at position -13 of the acceptor site of intron 1 of the GAA gene (c.-32-13T>G) resulting in alternatively spliced transcripts with deletion of the first coding exon;exon 2;the second allele has a C>G transversion at nucleotide 1445 in exon 10 (c.1445C>G) resulting in the substitution of arginine for proline at codon 482 Pro482Arg (P482R)

text: GAA

text: T>G

text: Homo sapiens

text: Caucasian

text: Male

text: Glycogen storage disease ii

characteristic: tag

text: GM13561 male affected Glycogen storage disease ii sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 72 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND24383 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: Hemochromatosis

text: 3 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Liver failure manifest at birth;affected sib expired in utero;liver biopsy showed postnecrotic cirrhosis;abundant stainable iron in regions of scarring;MRI showed evidence of siderosis of pancreas;parents are GM13588 & 13589 Lymph

characteristic: description

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Neonatal

text: Hemochromatosis

text: GM13567 female affected Hemochromatosis sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Tourette syndrome

text: 48 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Tourette syndrome

text: ND24384 female affected Tourette syndrome sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 2 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Amish;intrahepatic cholestasis;bile duct paucity;consanguineous parents

text: AMISH

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: GM13568 male affected Cholestasis, progressive familial intrahepatic 1 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 30 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: one-half Hispanic or Latino

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND24385 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 28 DA

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Amish;at-risk newborn;1 affected brother (GM13568);consanguineous parents

text: AMISH

text: sister

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: GM13569 female unaffected Cholestasis, progressive familial intrahepatic 1 sample


text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 10 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: one-quarter Hispanic or Latino

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

characteristic: tag

text: ND24386 male affected Tourette syndrome sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 4 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Amish;intrahepatic cholestasis;bile duct paucity;direct hyperbilirubinemia;similarly affected sister;consanguineous parents

characteristic: description

text: AMISH

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: GM13570 female affected Cholestasis, progressive familial intrahepatic 1 sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: Epilepsy

text: 6 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: African American

text: Female

text: Epilepsy

text: ND24389 female affected Epilepsy sample


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: 9 MO

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Amish;intrahepatic cholestasis;decreased interlobular bile ducts;diffuse hepatocyte unrest;direct hyperbilirubinemia;consanguineous parents

text: AMISH

characteristic: ethnicity

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: GM13571 female affected Cholestasis, progressive familial intrahepatic 1 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 64 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Population/convenience control

text: ND24424 female unaffected Population/convenience control sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 26 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Amish;clinically unaffected;1 affected son (GM13568)

text: AMISH

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: GM13574 male unaffected Cholestasis, progressive familial intrahepatic 1 sample


text: Coriell

text: live

text: Generic

text: Epilepsy

text: 56 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: More than one race

characteristic: race

text: Male

text: Epilepsy

characteristic: tag

text: ND24428 male affected Epilepsy sample


text: Coriell

text: live

text: Generic

text: 24 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: description

text: AMISH

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: GM13578 female unaffected Cholestasis, progressive familial intrahepatic 1 sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: 34 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: parent

text: Homo sapiens

text: Hispanic/Latino

text: Female

text: ND24429 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: 35 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;2 affected children;spouse of GM13589;proband is GM13567 Fibroblast

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Neonatal

text: Hemochromatosis

text: GM13588 male unaffected Hemochromatosis sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 64 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: husband

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: ND24431 male unaffected Population/convenience control sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 35 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;2 affected children;spouse of GM13588;proband is GM13567 Fibroblast

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Neonatal

text: Hemochromatosis

text: GM13589 female unaffected Hemochromatosis sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 44 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: parent

text: Homo sapiens

text: Hispanic/Latino

text: Male

text: ND24443 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: CFTR

text: 32 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Mild symptoms;donor subject is a compound heterozygote for mutations in the CFTR gene: allele one carries a deletion of codon 508 (CTT) in exon 10 which leads to deletion of phenylalanine-508 PHE508DEL and allele two carries a G-to-A transition at nucleotide 482 (482G>A) in exon 4;resulting in a change of arginine to histidine ARG117HIS (R117H);analysis of a DNA variant in a noncoding region of the CFTR gene (polypyrimidine tract in intron 8) showed this donor has alleles 5T/9T;donor subject is homozygous for a C>G transversion at nucleotide 187 in exon 2 of the HFE (HLA-H) gene 187C>G resulting in a substitution of aspartic acid for histidine at codon 63 His63Asp (H63D);donor subject is heterozygous for a C>T mutation at nucleotide 677 in exon 4 of the methylenetetrahydrofolate reductase (MTHFR) gene 677C>T that results in a substitution of a valine for an alanine at codon 222 Ala222Val (A222V)

text: CFTR;HFE;MTHFR

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Human gene mutation panel - cystic fibrosis (version 2)

text: CF

text: Hemochromatosis

text: HFE

text: Cystic fibrosis

text: MTHFR

text: Human gene mutation panel - hemochromatosis

text: Cystic fibrosis transmembrane conductance regulator

text: 5,10-methylenetetrahydrofolate reductase

text: CFTR

text: GM13591 female affected CFTR sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Epilepsy

text: 0 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Other

text: Male

text: Epilepsy

characteristic: tag

text: ND24444 male affected Epilepsy sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Colorectal cancer

text: 65 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Tubular adenomas;onset at age 61;sister with tubular adenomas;brother with lymphoma;mother with breast cancer

characteristic: description

text: Homo sapiens

text: Caucasian

text: Female

text: Familial

text: Colorectal cancer

text: GM13628 female affected Colorectal cancer sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 50 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: family id

text: parent

text: Homo sapiens

characteristic: organism

text: Asian

text: Male

text: ND24445 male 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: 42 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: At risk;hyperplastic polyps at age 41;mother and father with hyperplastic polyps;maternal aunt and maternal grandmother with colon cancer

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Familial

text: Colorectal cancer

text: GM13629 male unaffected Colorectal cancer sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 46 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: parent

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: ND24446 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Glomus tumors

text: 14 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Glomangioma of hands and feet;brother is also affected

text: Homo sapiens

text: Caucasian

text: Female

text: Glomus tumors

characteristic: tag

text: Multiple

text: GM13635 female affected Glomus tumors sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Epilepsy

text: 18 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

text: ND24447 female affected Epilepsy sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Ehlers-danlos syndrome: type iv

text: 24 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Type A aortic dissection;pneumonia/ left lower lobe atelectasis;right internal carotid artery occlusion;dilated superior mesenteric artery;pectus excavatum;history of inguinal & subumbilical hernias;father died at age 24

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Arterial, ecchymotic type

text: Ehlers-danlos syndrome: type iv

text: GM13636 male affected Ehlers-danlos syndrome: type iv sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 74 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: family id

text: cousin

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Parkinson disease

text: ND24449 female affected Parkinson disease sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Cancer of the breast, familial

text: 46 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Infiltrating ductal carcinoma;metastasis to bone;a paternal aunt & a maternal aunt also had breast cancer

text: Homo sapiens

text: Caucasian

text: Female

text: BCS

text: Cancer of the breast, familial

text: GM13639 female affected Cancer of the breast, familial sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Epilepsy

text: 38 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Epilepsy

text: ND24452 female affected Epilepsy sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Cancer of the breast, familial

text: 42 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Medullary carcinoma;maternal uncle had prostate cancer;a paternal uncle had breast cancer;paternal grandmother had lung cancer;paternal female cousin also had breast cancer

text: Homo sapiens

text: Black

characteristic: race

text: Female

text: BCS

text: Cancer of the breast, familial

text: GM13643 female affected Cancer of the breast, familial sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Epilepsy

text: 0 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

characteristic: tag

text: ND24453 female affected Epilepsy sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 40 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: At risk;mother had colon cancer;father had leukemia;and an uncle had lung cancer

text: AFRICAN-AMERICAN

characteristic: ethnicity

text: Homo sapiens

text: Black

text: Female

text: Familial

text: Colorectal cancer

text: GM13649 female unaffected Colorectal cancer sample