text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Epilepsy

text: 17 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected mother is ND08709.

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Epilepsy generalized: caucasian

text: Epilepsy

text: ND08708 male affected Epilepsy sample


status: PUBLIC

characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 22 YR

tag: attribute

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: In blood: Hpa I x beta: 7.6/7.6 Kb;Bam HI x beta: 8.3/8.3 Kb;Hind III x gamma (G;A): 7.1;2.7/7.8;3.4 Kb;Hinc II x pseudo B1: 7.6/6.0 Kb

characteristic: description

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Apparently healthy non-fetal tissue

characteristic: tag

text: Beta globin region restriction polymorphisms

text: GM05048 male unaffected Apparently healthy non-fetal tissue sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 47 YR

text: B-Lymphocyte

text: NINDS Repository

text: Affected son is ND08708.

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND08709 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 22 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: In blood: Hpa I x beta: 7.6/7.6 Kb;Bam HI x beta: 8.3/22.0 Kb;Hind III x gamma (G;A): 7.1;2.7/7.8;3.4 Kb;Hinc II x pseudo B1: 7.6/6.0 Kb

text: Homo sapiens

text: Caucasian

text: Male

text: Apparently healthy non-fetal tissue

text: GM05049 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 66 YR

text: B-Lymphocyte

text: NINDS Repository

text: maternal aunt

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Intracranial aneurysm - unruptured

text: ND08715 female affected Intracranial aneurysm - unruptured sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 35 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: In blood: Hpa I x beta: 7.6/7.6 Kb;Bam HI x beta: 22/22 Kb;Hind III x gamma (G;A): 7.1;3.4/7.1;3.4 Kb;Hinc II x pseudo B1: 3.0/3.0 Kb

text: Homo sapiens

text: Caucasian

text: Female

text: Apparently healthy non-fetal tissue

text: GM05050 female unaffected Apparently healthy non-fetal tissue sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 68 YR

text: B-Lymphocyte

text: NINDS Repository

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: ND08721 male unaffected Neurologically normal caucasian control panel sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 25 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: In blood;Hpa I x beta: 7.6/7.6 Kb;Bam HI x beta: 8.3/22 Kb;Hind III x gamma (G;A): 7.8;3.4/7.1;3.4 Kb

text: Homo sapiens

text: Caucasian

text: Male

text: Apparently healthy non-fetal tissue

text: GM05051 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

text: Generic

text: 53 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND08724 female unaffected Neurologically normal caucasian control panel sample


text: Coriell

text: live

text: Generic

text: 28 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: In blood: Hpa I x beta: 7.6/7.0 Kb;Bam HI x beta: 8.3/8.3 Kb

characteristic: description

text: AFRICAN-AMERICAN

characteristic: ethnicity

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Black

text: Female

text: GM05052 female unaffected Beta globin region restriction polymorphisms sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Epilepsy

text: 25 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother is ND08735;unaffected father is ND08736.

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy

characteristic: tag

text: ND08734 male affected Epilepsy sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Retinitis pigmentosa 1

text: 21 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;night vision difficulty;myopia;abnormal visual fields;affected mother is GM05059;maternal grandmother also affected;ERG exam: Photopic showed subnormal amplitudes;delayed implicit times;and borderline phase relations to 30 hertz flicker. Scotopic showed normal amplitudes with probably delayed implicit times;see GM05058 Lymphoid

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Retinitis pigmentosa 1

text: GM05057 female affected Retinitis pigmentosa 1 sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 59 YR

text: B-Lymphocyte

text: NINDS Repository

text: Affected son is ND08734;unaffected spouse is ND08736.

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND08735 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Retinitis pigmentosa 1

text: 21 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;night vision difficulty;myopia;abnormal visual fields;affected mother is GM05059;maternal grandmother also affected;ERG exam: Photopic showed subnormal amplitudes;delayed implicit times;and borderline phase relations to 30 hertz flicker. Scotopic showed normal amplitudes with probably delayed implicit times;see GM05057 Fibroblast

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Retinitis pigmentosa 1

text: GM05058 female affected Retinitis pigmentosa 1 sample


text: Coriell

text: live

text: Generic

text: 62 YR

text: B-Lymphocyte

text: NINDS Repository

text: Affected son is ND08734;unaffected spouse is ND08735.

characteristic: description

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: ND08736 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Retinitis pigmentosa 1

text: 44 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;diagnosed about age 4-5;nystagmus;affected daughter is GM05057;mother also affected;see GM05060 Lymphoid

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Retinitis pigmentosa 1

text: GM05059 female affected Retinitis pigmentosa 1 sample


text: Coriell

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 70 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

characteristic: tag

text: ND08747 female affected Intracranial aneurysm - unruptured sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Retinitis pigmentosa 1

text: 44 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;diagnosed about age 4-5;nystagmus;affected daughter is GM05058;mother also affected;see GM05059 fibroblast

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Retinitis pigmentosa 1

text: GM05060 female affected Retinitis pigmentosa 1 sample


text: Coriell

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 72 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Intracranial aneurysm - unruptured

text: ND08748 female affected Intracranial aneurysm - unruptured sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 34 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Short stature;mentally slow;42%/58%;see GM03225 Fibroblast

text: mother

text: 47;XX;+del(9)(9pter>9q11:) 29 /46;XX 21;47;XX;+del(9)(pter->q11:).ish del(9)(pter->q11:)(wcp9+;CEP9+) 48 /46;X;+del(9)(pter->q11:).ish del(9)(pter->q11:)(wcp9+;CEP9+) 2

characteristic: karyotype

text: Homo sapiens

text: Black

text: Female

text: Aneuploid chromosome number - trisomy

text: Aneuploid chromosome number - trisomy 9

text: GM05066 female unaffected Aneuploid chromosome number - trisomy sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Intracranial aneurysm - unruptured

text: 42 YR

text: B-Lymphocyte

text: NINDS Repository

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm unruptured: caucasian

text: Intracranial aneurysm - unruptured

text: ND08762 female affected Intracranial aneurysm - unruptured sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 3 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Multiple malformations and mental retardation;see GM03226 Fibroblast

text: proband

text: 47;XY;+del(9)(9pter->9q11:)mat.arr 9p24.3p11.2(36587-44806024)x3;47;XY;+del(9)(9pter>9q11:)mat

text: Homo sapiens

text: Black

text: Male

text: Aneuploid chromosome number - trisomy

text: Copy number variation (cnv) reference panel

text: Aneuploid chromosome number - trisomy 9

text: GM05067 male unaffected Aneuploid chromosome number - trisomy sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Epilepsy

text: 46 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Epilepsy

text: ND08768 male affected Epilepsy sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 21 DA

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Similarly affected sib;typical urine odor;severe muscle hypotonia;absent neonatal reflexes;high levels of valine;isoleucine;& leucine in plasma;expired at age 1 mo

characteristic: description

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: GM05074 male affected Maple syrup urine disease (msud) type ia sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 74 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Affected son is ND08768;unaffected son is ND08770.

text: mother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: ND08769 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 7 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Coarse facies;hepatosplenomegaly;lumbar kyphosis;and no signs of neurological or ocular abnormalities;10% of normal B-galactosidase and 6% of normal sialidase activity in fibroblasts

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: GM05076 male affected Neuraminidase deficiency with beta-galactosidase deficiency sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 45 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Affected brother is ND08768;unaffected mother is ND08769.

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: ND08770 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: Muscular dystrophy: becker type

text: 10 YR

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically affected with Becker's muscular dystrophy;diagnosed at age 9;progressive weakness;calf hypertrophy;began walking at 13 months but did not start crawling until after walking began;calf and thigh cramping when running at age 7;difficulty climbing stairs and frequent falls at age 8;by age 9 there was a positive Gower's maneuver;gluteal gait;hypotonia of the four extremities;depressed deep tendon reflexes;marked weakness in hip flexors;weakness to ankle dorsiflexion;hip adduction;hip abduction and flexion;weakness to neck flexion;shoulder adduction and abduction;atrophy of anterior hip groups;moderate lumbar lordosis;mild contractures of the ankles;upper nystagmus;muscle testing at age 9: neck flexors 4/5;neck extensors 5/5;deltoids 4/5;pectorals 4/5;biceps 5-/5;triceps 5/5;wrist extensors 5/5;psoas 4+/5;quadriceps 5-/5;hamstrings 5/5;tibialis anterior 5-/5;gastrocnemius 5/5;by age 11 there was marked weakness in the lower extremity proximal muscles and mild weakness in the upper extremity proximal muscles;son of GM05087/88;elevated CPK;muscle biopsy confirmed myopathy of the DMD type with very mild involvement suggestive of the Becker variant;donor subject does not have a deletion in the dystrophin gene as determined by multiplex PCR;same donor as GM05082 (lymphocyte).

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: BMD

text: Muscular dystrophy: becker type

text: GM05081 male affected Muscular dystrophy: becker type sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Epilepsy

text: 23 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother is ND08872;unaffected father is ND08873.

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy generalized: caucasian

text: Epilepsy

text: ND08771 female affected Epilepsy sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Muscular dystrophy: becker type

text: 10 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected with Becker's muscular dystrophy;diagnosed at age 9;progressive weakness;calf hypertrophy;began walking at 13 months but did not start crawling until after walking began;calf and thigh cramping when running at age 7;difficulty climbing stairs and frequent falls at age 8;by age 9 there was a positive Gower's maneuver;gluteal gait;hypotonia of the four extremities;depressed deep tendon reflexes;marked weakness in hip flexors;weakness to ankle dorsiflexion;hip adduction;hip abduction and flexion;weakness to neck flexion;shoulder adduction and abduction;atrophy of anterior hip groups;moderate lumbar lordosis;mild contractures of the ankles;upper nystagmus;muscle testing at age 9: neck flexors 4/5;neck extensors 5/5;deltoids 4/5;pectorals 4/5;biceps 5-/5;triceps 5/5;wrist extensors 5/5;psoas 4+/5;quadriceps 5-/5;hamstrings 5/5;tibialis anterior 5-/5;gastrocnemius 5/5;by age 11 there was marked weakness in the lower extremity proximal muscles and mild weakness in the upper extremity proximal muscles;son of GM05087/88;elevated CPK;muscle biopsy confirmed myopathy of the DMD type with very mild involvement suggestive of the Becker variant;same donor as GM05081 Fibroblast;dystrophin gene shows no detectable deletion or duplication by multiplex ligation probe amplification (MLPA) analysis;DNA sequencing showed no detectable mutations

text: proband

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: BMD

text: Muscular dystrophy: becker type

text: GM05082 male affected Muscular dystrophy: becker type sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 46 YR

text: B-Lymphocyte

text: NINDS Repository

text: Affected son is ND08871;unaffected spouse is ND08873.

characteristic: description

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND08772 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 34 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically unaffected;donor subject does not have a deletion in the dystrophin gene as determined by multiplex PCR;mother of an affected child (GM05081);same donor as GM05088 Lymphoid

text: mother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: BMD

text: Muscular dystrophy: becker type

text: GM05087 female unaffected Muscular dystrophy: becker type sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 45 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

text: Male

text: ND08777 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 34 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;donor subject does not have a deletion in the dystrophin gene as determined by multiplex PCR;mother of an affected child (GM05082);same donor as GM05087 Fibroblast

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: BMD

text: Muscular dystrophy: becker type

text: GM05088 female unaffected Muscular dystrophy: becker type sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Parkinson disease

text: 57 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Parkinson disease

text: ND08783 male affected Parkinson disease sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: BMD

text: 28 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;Becker type;diagnosed at age 8;progressive muscle weakness;calf hypertrophy;by age 27 there was proximal muscle weakness;increasing difficulty in coming to standing position;inability to extend ankles to 90 degrees;markedly weak quadricep muscle with inability to extend legs against gravity at the knees;seizure disorder;elevated CPK;muscle biopsy showed inflammatory and fibronic changes (processed by formal and fixed parafin section analysis);donor subject has a deletion of exons 3-5 in the dystrophin gene as determined by multiplex PCR;same donor as GM05090 Lymphoid

characteristic: description

text: proband

text: DMD

characteristic: gene

text: arr Xp21.1(32748557-32808436)x0

characteristic: karyotype

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: BMD

text: DMD

text: Dystrophin

text: Muscular dystrophy: becker type

text: GM05089 male affected BMD sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 69 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

characteristic: tag

text: Amyotrophic lateral sclerosis 1

text: ND08789 male affected Amyotrophic lateral sclerosis 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: BMD

text: 28 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;Becker type;diagnosed at age 8;progressive muscle weakness;calf hypertrophy;by age 27 there was proximal muscle weakness;increasing difficulty in coming to standing position;inability to extend ankles to 90 degrees;markedly weak quadricep muscle with inability to extend legs against gravity at the knees;seizure disorder;elevated CPK;muscle biopsy showed inflammatory and fibronic changes (processed by formal and fixed parafin section analysis);donor subject has a deletion of exons 3-5 in the dystrophin gene as determined by multiplex PCR;same donor as GM05089 Fibroblast

text: proband

text: DMD

text: 46;XY;46;XY.arr Xp21.1(32753075-32807169)x0

text: Homo sapiens

text: Caucasian

text: Male

text: BMD

text: DMD

text: Dystrophin

text: Muscular dystrophy: becker type

text: GM05090 male affected BMD sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Subarachnoid hemorrhage

text: 51 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Subarachnoid hemorrhage

text: ND08794 female affected Subarachnoid hemorrhage sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Ichthyosis type unknown

text: 3 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Sardinian;normal sterol sulfatase;same patient as GM16785 Lymphoid

characteristic: description

text: SARDINIAN

characteristic: ethnicity

text: maternal cousin

text: Homo sapiens

text: Caucasian

text: Male

text: Ichthyosis type unknown

text: GM05091 male affected Ichthyosis type unknown sample


text: Coriell

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 47 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: brother

text: Homo sapiens

text: American Indian

characteristic: race

text: Male

characteristic: sex

text: Intracranial aneurysm - unruptured

text: ND08797 male affected Intracranial aneurysm - unruptured sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Mucopolysaccharidosis type iiid

text: 7 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Mentally retarded & characteristic behavioral disturbances;excessive secretion of heparan sulfate & inability to release inorganic sulfate from N-acetylglucosamine-6-sulfate residues of heparan sulfate-derived oligosaccharides;donor subject is homozygous for a C>T transition at nucleotide 1063 in exon 9 of the GNS gene (1063C>T) resulting in the substitution of a termination signal for arginine at codon 355 Arg355Ter (R355X)

text: GNS

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Asiatic Indian

text: Male

text: GNS

characteristic: tag

text: Mucopolysaccharidosis type iiid

text: GM05093 male affected Mucopolysaccharidosis type iiid sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Parkinson disease

text: 48 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: ITALIAN;ENGLISH;SCOTISH

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinson disease

text: ND08824 male affected Parkinson disease sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;Sardinian;double heterozygote for DMD & G6PD deficiency of the Mediterranean type;PCR analysis of dystrophin gene shows no deletion/duplication;1 affected son (G6PD normal);1 unaffected son (G6PD deficient);& 2 affected brothers (G6PD normal);one of which is GM04327.

text: SARDINIAN

characteristic: family id

text: sister

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Muscular dystrophy: duchenne type

text: DMD

text: GM05104 female unaffected Muscular dystrophy: duchenne type sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 45 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: sister

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Intracranial aneurysm - unruptured

text: ND08825 female affected Intracranial aneurysm - unruptured sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 10 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;absent axon flare;scoliosis;no cyclic vomiting;alacrima;absent fungiform papillae;absent deep tendon reflexes;25th percentile for weight;drools profusely due to lax lower jaw and decreased swallowing of saliva;moderate restrictive lung disease with poor coordination;sensory impairment greater in left leg and foot compared to the right;joint position abnormal in left foot;slightly impaired cerebellar function;nocturnal enuresis;poor speech and handwriting difficulties;no corneal problems;mild Horner's syndrome;weak jaw and temporalis muscles;weak neck and trapezius muscles;hypertensive when supine;only identified one of four odors;donor subject is homozygous for the 2507+6T>C mutation in the IKBKAP gene;this donor splice site mutation (IVS20+6T>C) leads to deletion of exon 20 from the mRNA;affected brother died at age 19;affected sister is GM05106;father is GM05107;mother is GM05108;unaffected siblings are GM05109;GM05110;GM05111;affected paternal cousin is GM09790.

characteristic: description

text: ASHKENAZI

characteristic: ethnicity

text: proband

text: IKBKAP

characteristic: gene

characteristic: karyotype

text: T>C

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Inhibitor of kappa light polypeptide gene enhancer in b cells

text: Kinase-complex associated protein

text: IKBKAP

text: GM05105 male affected Neuropathy, hereditary sensory and autonomic type iii sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Intracranial aneurysm - unruptured

text: 40 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Intracranial aneurysm - unruptured

characteristic: tag

text: ND08826 male affected Intracranial aneurysm - unruptured sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 12 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;absent axon flare;no cyclic vomiting;absent lingual fungiform papillae;absent deep tendon reflexes;alacrima;kyphosis;renal complications;below 5th percentile for for height;at 5th percentile for weight;nocturnal enuresis;no corneal problems;diminished corneal reflexes;strabismus;labile blood pressure;difficulty chewing;air swallowing;poor oral coordination;chronic rhinorrhea;azotemia;donor subject is homozygous for the 2507+6T>C mutation in the IKBKAP gene;this donor splice site mutation (IVS20+6T>C) leads to deletion of exon 20 from the mRNA;one affected brother died at age 19;affected brother is GM05105;father is GM05107;mother is GM05108;unaffected siblings are GM05109;GM05110;GM05111;affected paternal cousin is GM09790.

text: ASHKENAZI

characteristic: family id

text: sister

text: IKBKAP

characteristic: mutation

text: T>C

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Kinase-complex associated protein

text: IKBKAP

text: GM05106 female affected Neuropathy, hereditary sensory and autonomic type iii sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 43 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: sister

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Intracranial aneurysm - unruptured

text: ND08827 female affected Intracranial aneurysm - unruptured sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 41 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;donor subject has one allele which has the 2507+6T>C mutation in the IKBKAP gene;this donor splice site mutation (IVS20+6T>C) leads to deletion of exon 20 from the mRNA;the second allele tested negative for the IVS20+6T>C and R696P mutations;affected children are GM05105;GM05106;son of GM09662.

characteristic: description

text: ASHKENAZI

characteristic: ethnicity

text: father

text: IKBKAP

characteristic: gene

text: T>C

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Kinase-complex associated protein

text: IKBKAP

text: GM05107 male unaffected Neuropathy, hereditary sensory and autonomic type iii sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Subarachnoid hemorrhage

text: 65 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: half-sister

text: Homo sapiens

text: Caucasian

text: Female

text: Subarachnoid hemorrhage

characteristic: tag

text: ND08835 female affected Subarachnoid hemorrhage sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 35 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;donor subject has one allele which has the 2507+6T>C mutation in the IKBKAP gene;this donor splice site mutation (IVS20+6T>C) leads to deletion of exon 20 from the mRNA;the second allele tested negative for the IVS20+6T>C and R696P mutations;affected children are GM05105;GM05106.

text: ASHKENAZI

characteristic: family id

text: mother

text: IKBKAP

characteristic: mutation

text: T>C

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Kinase-complex associated protein

text: IKBKAP

text: GM05108 female unaffected Neuropathy, hereditary sensory and autonomic type iii sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Epilepsy

text: 4 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: African American

characteristic: race

text: Male

text: Epilepsy

text: ND08847 male affected Epilepsy sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 13 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;donor subject has one allele which has the 2507+6T>C mutation in the IKBKAP gene;this donor splice site mutation (IVS20+6T>C) leads to deletion of exon 20 from the mRNA;the second allele tested negative for the IVS20+6T>C and R696P mutations;affected siblings are GM05105;GM05106.

characteristic: description

text: JEWISH

characteristic: ethnicity

text: sister

text: IKBKAP

characteristic: gene

text: T>C

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Kinase-complex associated protein

text: IKBKAP

text: GM05109 female unaffected Neuropathy, hereditary sensory and autonomic type iii sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Intracranial aneurysm - unruptured

text: 59 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: first cousin

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm unruptured: caucasian

characteristic: tag

text: Intracranial aneurysm - unruptured

text: ND08848 female affected Intracranial aneurysm - unruptured sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 8 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;donor subject is negative for the common IVS20+6T>C mutation and the R696P mutation in the IKBKAP gene.

text: JEWISH

characteristic: family id

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: GM05110 male unaffected Neuropathy, hereditary sensory and autonomic type iii sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 63 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Intracranial aneurysm - unruptured

text: ND08849 male affected Intracranial aneurysm - unruptured sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 15 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

characteristic: description

text: JEWISH

text: sister

text: IKBKAP

characteristic: mutation

text: T>C

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Inhibitor of kappa light polypeptide gene enhancer in b cells

text: Kinase-complex associated protein

text: IKBKAP

text: GM05111 female unaffected Neuropathy, hereditary sensory and autonomic type iii sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 51 YR

text: B-Lymphocyte

text: NINDS Repository

text: ITALIAN

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Amyotrophic lateral sclerosis 1

text: ND08850 male affected Als panel caucasian from the united states sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: DMD

text: 13 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected with Duchenne muscular dystrophy;diagnosed with neuromuscular disease at age one;progressive proximal weakness;calf hypertrophy;normal IQ;at age six there was toe walking;tight heelcords;limited range of motion in ankles and hip extension;good trunk strength;hamstring tightness;lumbar lordosis;by age nine there was a modified Gower's maneuver;gluteal gait;absent deep tendon reflexes;intact antigravity muscles in upper extremities;weakness of lower extremities;quads 2/5;knee extensor 2/5;knee flexors 3/5;weakness to ankle extensor more so than flexion;diminishment of pulmonary function;became wheelchair bound between ages 9 and 11;at age 11 there was progressive weakness in lower extremities;contractures at knees;hips and ankles;bicep and tricep strength grade IV+ bilaterally;ability to raise arms above head without difficulty;affected brother is GM05114/15;son of GM05116/17 (mother) and GM05118/19 (father);elevated CPK at age 1;muscle biopsy at age 10 revealed characteristic picture of a myopathy of the Duchenne muscular dystrophy type;donor subject has a deletion of exon 45 in the dystrophin gene as determined by multiplex PCRsame donor as GM05113 (lymphocyte).

text: proband

text: DMD

characteristic: gene

text: arr Xp21.1(31869808-32028005)x0

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Muscular dystrophy: duchenne type

characteristic: tag

text: DMD

text: Dystrophin

text: GM05112 male affected DMD sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 49 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: NORWEGIAN/IRISH/SWEDISH

characteristic: family id

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: Neurologically normal caucasian control panel

text: ND08851 female unaffected Control panel for young onset parkinsons: unaffected individuals sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: DMD

text: 13 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected with Duchenne muscular dystrophy;diagnosed with neuromuscular disease at age one;progressive proximal weakness;calf hypertrophy;normal IQ;at age six there was toe walking;tight heelcords;limited range of motion in ankles and hip extension;good trunk strength;hamstring tightness;lumbar lordosis;by age nine there was a modified Gower's maneuver;gluteal gait;absent deep tendon reflexes;intact antigravity muscles in upper extremities;weakness of lower extremities;quads 2/5;knee extensor 2/5;knee flexors 3/5;weakness to ankle extensor more so than flexion;diminishment of pulmonary function;became wheelchair bound between ages 9 and 11;at age 11 there was progressive weakness in lower extremities;contractures at knees;hips and ankles;bicep and tricep strength grade IV+ bilaterally;ability to raise arms above head without difficulty;affected brother is GM05114/15;son of GM05116/17 (mother) and GM05118/19 (father);elevated CPK at age 1;muscle biopsy at age 10 revealed characteristic picture of a myopathy of the Duchenne muscular dystrophy type;donor subject has a deletion of exon 45 in the dystrophin gene as determined by multiplex PCR;same donor as GM05112 (fibroblast).

characteristic: description

text: proband

text: DMD

text: 46;XY;46;XY.arr Xp21.1(31869808-32028005)x0

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Muscular dystrophy: duchenne type

text: DMD

text: Dystrophin

text: GM05113 male affected DMD sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Epilepsy

text: 10 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Epilepsy generalized: caucasian

text: Epilepsy

text: ND08871 male affected Epilepsy sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: DMD

text: 22 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected with Duchenne muscular dystrophy;diagnosed at age 10;calf hypertrophy;progressive muscle weakness;toe walking;difficulty with stairs and frequent falls noted at age 4;wheelchair bound by age 10;by age 15 there was mild scoliosis;lumbar lordosis;contractures of the elbows;ankles;hips and knees;marked weakness in upper extremities;tight heelcords;by age 20 there was inability to flex hips against gravity;inability to raise hands above head;donor subject has a deletion of exon 45 in the dystrophin gene as determined by multiplex PCR;affected brother is GM05112/13;son of GM05116/17 (mother) and GM05118/19 (father);elevated CPK;same donor as GM05115 (lymphocyte).

text: brother

text: DMD

characteristic: gene

text: Homo sapiens

text: Caucasian

text: Male

text: Muscular dystrophy: duchenne type

characteristic: tag

text: DMD

text: Dystrophin

text: GM05114 male affected DMD sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 37 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND08872 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: DMD

text: 22 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected with Duchenne muscular dystrophy;diagnosed at age 10;calf hypertrophy;progressive muscle weakness;toe walking;difficulty with stairs and frequent falls noted at age 4;wheelchair bound by age 10;by age 15 there was mild scoliosis;lumbar lordosis;contractures of the elbows;ankles;hips and knees;marked weakness in upper extremities;tight heelcords;by age 20 there was inability to flex hips against gravity;inability to raise hands above head;donor subject has a deletion of exon 45 in the dystrophin gene as determined by multiplex PCR;affected brother is GM05112/13;son of GM05116/17 (mother) and GM05118/19 (father);elevated CPK;same donor as GM05114 (fibroblast).

characteristic: description

text: brother

text: DMD

text: arr Xp21.1(31869808-31995808)x0

characteristic: karyotype

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Muscular dystrophy: duchenne type

text: DMD

text: Dystrophin

text: GM05115 male affected DMD sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 37 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Affected son is ND08871;unaffected spouse is ND08872.

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: ND08873 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 44 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;mother of two affected children (GM05112 and GM05114);same donor as GM05117 Lymphoid

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Muscular dystrophy: duchenne type

characteristic: tag

text: DMD

text: GM05116 female unaffected Muscular dystrophy: duchenne type sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Parkinson disease

text: 72 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinson disease

text: ND08883 male affected Parkinson disease sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: 44 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically unaffected;mother of two affected children (GM05113 and GM05115);donor subject has a deletion of exon 45 in the dystrophin gene as determined by multiplex PCR;same donor as GM05116 Fibroblast

characteristic: description

text: mother

text: DMD

characteristic: gene

text: Homo sapiens

text: Caucasian

text: Female

text: Muscular dystrophy: duchenne type

text: DMD

text: GM05117 female unaffected Muscular dystrophy: duchenne type sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Parkinson disease

text: 46 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

text: Male

text: Parkinson disease

text: ND08884 male affected Parkinson disease sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 44 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;father of two affected children (GM05112 and GM05114;same donor as GM05119 Lymphoid

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Muscular dystrophy: duchenne type

text: DMD

text: GM05118 male unaffected Muscular dystrophy: duchenne type sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 55 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Subarachnoid hemorrhage

characteristic: tag

text: ND08891 female affected Subarachnoid hemorrhage sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 44 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;father of two affected children (GM05113 and GM05115);same donor as GM05118 Fibroblast

characteristic: family id

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Muscular dystrophy: duchenne type

text: DMD

text: GM05119 male unaffected Muscular dystrophy: duchenne type sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Epilepsy

text: 10 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected mother is ND08898.

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy generalized: caucasian

text: Epilepsy

text: ND08897 male affected Epilepsy sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: DMD

text: 16 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected with Duchenne muscular dystrophy;diagnosed at age 5;calf hypertrophy;progressive weakness;did not talk until age 4;by age 7 there was mild mental retardation;waddling gait;difficulty in climbing stairs;inability to run or jump;weakness in hip extensors and quads;normal upper extremity strength;wheelchair bound by age 10;by age 15 there was mild scoliosis;marked contractures of the lower extremities;weakness of the shoulder and upper extremity muscles;affected brother is GM05126;elevated CPK;same donor as GM05124 Lymphoid;donor subject shows a duplication of exons 45-62 of the dystrophin gene by multiplex ligation probe amplification (MLPA) analysis

text: proband

text: DMD

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Muscular dystrophy: duchenne type

text: DMD

text: Dystrophin

text: GM05123 male affected DMD sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: 36 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Affected son is ND08897.

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND08898 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Muscular dystrophy: duchenne type

text: 16 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected with Duchenne muscular dystrophy;diagnosed at age 5;calf hypertrophy;progressive weakness;did not talk until age 4;by age 7 there was mild mental retardation;waddling gait;difficulty in climbing stairs;inability to run or jump;weakness in hip extensors and quads;normal upper extremity strength;wheelchair bound by age 10;by age 15 there was mild scoliosis;marked contractures of the lower extremities;weakness of the shoulder and upper extremity muscles;affected brother is GM05125;elevated CPK;same donor as GM05123 Fibroblast;MLPA analysis of Dystrophin gene alterations and copy number variation (CNV) analysis using the Affymetrix 6.0 gene chip performed on DNA made from this culture showed the duplication of exons 45-62

text: proband

text: DMD

text: 46;XY;46;XY.arr Xp21.2p21.1(31224485-31977208)x2

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Muscular dystrophy: duchenne type

text: DMD

text: Copy number variation (cnv) refernece panel 02

text: Dystrophin

text: GM05124 male affected Muscular dystrophy: duchenne type sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 51 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: same subject as ND29370

text: ASHKENAZI JEWISH

characteristic: ethnicity

characteristic: family id

text: proband

text: EX5-6 DEL

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinson disease

characteristic: tag

text: ND08917 male affected Parkinson disease sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Muscular dystrophy: duchenne type

text: 22 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected with Duchenne muscular dystrophy;diagnosed at age 7;calf hypertrophy;progressive proximal weakness;wheelchair bound by 9 1/2 years;by age 12 there was marked muscle weakness of the ankles;hips and knees and diffuse muscle weakness involving shoulder girdle;triceps and biceps;inability to read;by age 22 there was scoliosis;marked contractures of the lower extremities;and no movement of the upper extremities with the exception of the hands;affected brother is GM05124;elevated CPK;same donor as GM05126 Lymphoid;MLPA analysis of Dystrophin gene alterations and copy number variation (CNV) analysis using the Affymetrix 6.0 gene chip performed on DNA made from this culture's matching lymphoid line (GM05126) showed the duplication of exons 45-62

characteristic: description

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Muscular dystrophy: duchenne type

text: DMD

text: GM05125 male affected Muscular dystrophy: duchenne type sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: Parkinson disease

text: 64 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: ITALIAN

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Parkinson disease

text: ND08919 female affected Parkinson disease sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: Muscular dystrophy: duchenne type

text: 22 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected with Duchenne muscular dystrophy;diagnosed at age 7;calf hypertrophy;progressive proximal weakness;wheelchair bound by 9 1/2 years;by age 12 there was marked muscle weakness of the ankles;hips and knees and diffuse muscle weakness involving shoulder girdle;triceps and biceps;inability to read;by age 22 there was scoliosis;marked contractures of the lower extremities;and no movement of the upper extremities with the exception of the hands;affected brother is GM05123;elevated CPK;same donor as GM05125 Fibroblast;MLPA analysis of Dystrophin gene alterations and copy number variation (CNV) analysis using the Affymetrix 6.0 gene chip performed on DNA made from this culture showed the duplication of exons 45-62

text: brother

text: DMD

characteristic: gene

text: arr Xp21.2p21.1(31224485-31977208)x2

characteristic: karyotype

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Muscular dystrophy: duchenne type

text: DMD

text: GM05126 male affected Muscular dystrophy: duchenne type sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 51 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

characteristic: tag

text: ND08953 female affected Intracranial aneurysm - unruptured sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Muscular dystrophy: duchenne type

text: 18 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected with Duchenne muscular dystrophy;diagnosed sometime before age 9;calf hypertrophy;progressive weakness;wheelchair bound sometime before age 12 but exact age at dependence is unknown;by age 12 there was mild scoliosis;lumbar lordosis;contractures of the knees;ankles;elbows and hips;marked weakness in the upper extremities;tight heelcords and hamstrings;muscle strength testing at age 12: quadriceps and biceps are antigravity bilaterally;hip flexors poor bilaterally;left shoulder flexor is antigravity and right is poor;shoulder abductors poor;neck flexors poor;neck extensors fair;by age 18 there was progressive deterioration of functioning;moderate scoliosis and only one arm could be raised to the chin;affected brother is GM05128;elevated CPK;dystrophin gene shows no detectable deletion or duplication by multiplex ligation probe amplification (MLPA) analysis;DNA sequencing showed this donor has a G>T transversion at nucleotide 5533 of the DMD gene (c.5533G>T) resulting in a stop at codon 1845 Glu1845Ter (E1845X)

characteristic: description

text: proband

text: DMD

text: Homo sapiens

text: Caucasian

text: Male

text: Muscular dystrophy: duchenne type

text: DMD

text: GM05127 male affected Muscular dystrophy: duchenne type sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: Intracranial aneurysm - unruptured

text: 56 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND08954 female affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

text: Generic

text: Muscular dystrophy: duchenne type

text: 15 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected with Duchenne muscular dystrophy;diagnosed at age 9;calf hypertrophy;progressive weakness;first walked at 18 months;wheelchair bound sometime between age 9 and 14;by age 9 there was difficulty rising to a standing position;proximal muscle weakness at shoulder and pelvic girdle;markedly depressed deep tendon reflexes in the knees and upper extremities but reflexes in the ankles were present;pseudohypertrophy of the tongue;by age 14 there was ability to lift arms above the head;moderate contractures of the lower extremities;feet markedly inverted;affected brother is GM05127;elevated CPK.

text: brother

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Muscular dystrophy: duchenne type

text: DMD

text: GM05128 male affected Muscular dystrophy: duchenne type sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 74 YR

text: B-Lymphocyte

text: NINDS Repository

text: BELGIUM;ENGLAND

characteristic: ethnicity

text: proband

characteristic: gene

text: (GGGGCC)n EXPANSION

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Als panel lower-limb onset

text: Als panel caucasian from the united states

text: Als panel caucasian from the us

text: Amyotrophic lateral sclerosis 1

text: ND08980 female affected Als panel lower-limb onset probable and possible als sample


text: Coriell

text: live

text: Generic

text: Fmr1 gene

text: 3 YR

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Similarly affected brother and uncle;46;fra(X)(q27);Y in PBL;8% of fibroblasts show fra(X) with FudR;mother is GM05855B Lymphoid;affected male by Southern analysis

characteristic: family id

text: proband

text: 46;fra(X)(q27);Y 8% of cells show fra(X) with FudR

characteristic: karyotype

text: (CGG)n EXPANSION

text: Homo sapiens

text: Caucasian

text: Male

text: Fmr1 gene

characteristic: tag

text: Fragile x mental retardation syndrome

text: GM05131 male affected Fmr1 gene sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Amniotic fluid-derived cell line

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Mother is an obligate carrier for Xlinked mental retardation;brother is GM05131 Fibroblast;2 brothers and a maternal uncle have X-linked mental retardation;fra(X) in 6% of PBL;carrier female by Southern analysis

characteristic: description

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Fragile x mental retardation syndrome

text: GM05132 female unaffected Fragile x mental retardation syndrome sample


characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Abortus

text: brother

text: 46;XY;der(14)(14qter> 14p11.2::20p11.1>20pter)mat

text: Homo sapiens

characteristic: organism

text: Black

characteristic: race

text: Male

text: Translocated chromosome

text: GM05133 male unaffected Translocated chromosome sample


text: Coriell

text: live

text: Generic

text: 78 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: IRISH

characteristic: ethnicity

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Population/convenience control

text: Neurologically normal caucasian control panel

text: ND08981 male unaffected Dna control panel for late onset parkinsons: unaffected individuals sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 24 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Type I bipolar illness;positive family history;onset at age 15;1 major depressive episode;2 manic episodes;on Lithium

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: GM05134 male affected Major affective disorder - 125480 or 309200 sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Amyotrophic lateral sclerosis 1

text: 51 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: RUSSIAN

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND09014 male affected Amyotrophic lateral sclerosis 1 sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 51 YR

text: B-Lymphocyte

text: NINDS Repository

text: ENGLISH

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND09015 female unaffected Control panel for young onset parkinsons: unaffected individuals sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Epilepsy

text: 2 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Epilepsy

text: ND09044 female affected Epilepsy sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 47 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Type I bipolar illness;positive family history;onset at age 21;4 major depressive episodes;1 manic episode;on Lithium

characteristic: description

text: mother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: GM05135 female affected Major affective disorder - 125480 or 309200 sample


text: Coriell

text: live

text: Generic

text: 44 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: ND09046 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Dystrophia myotonica 1

text: 70 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;cramping of distal muscles and myotonic grip noted in 30's;retinal pigment deterioration;macular degenerative changes;hearing loss with use of hearing aid in one ear;syncope episodes at age 68;chronic pulmonary disease including wheezing and shortness of breath;bilateral ptosis;weakness to full closure of lids;nominal weakness to the facial muscles;marked weakness to grip;distal weakness;myotonia evident with grip and to percussion of the thenar eminences;affected son is GM04573;affected grandson is GM04647;affected daughter is GM05281;diagnosis made from EMG evaluation;muscle biopsy confirmed diagnosis

characteristic: family id

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: Dystrophia myotonica 1

text: GM05142 male affected Dystrophia myotonica 1 sample


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: 47 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND09059 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Charcot-marie-tooth disease type 1a

text: 40 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;hypertrophic nerves over the neck and elbow;scoliosis;sensory and motor loss distally;affected family members include 6 siblings and 3 children;affected son is GM05148;see GM05147 lymphocyte

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Charcot-marie-tooth disease type 1a

text: GM05146 female affected Charcot-marie-tooth disease type 1a sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: 56 YR

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: ND09060 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: Charcot-marie-tooth disease type 1a

text: 40 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;hypertrophic nerves over the neck and elbow;scoliosis;sensory and motor loss distally;affected family members include 6 siblings and 3 children;affected son is GM05149;see GM05146 fibroblast.

characteristic: description

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Charcot-marie-tooth disease type 1a

text: GM05147 female affected Charcot-marie-tooth disease type 1a sample


text: Coriell

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 39 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Subarachnoid hemorrhage

text: ND09069 female affected Subarachnoid hemorrhage sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 17 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;hypertrophic neuropathy;palpable nerves in neck and elbow;high arch of feet;moderate loss of intrinsic foot muscles;hammer toe deformities;moderate weakness of all ankle related musculature;atrophy and weakness distally;decreased sensation;affected family members include 2 siblings;mother;6 maternal aunts and uncles;and maternal grandfather;affected mother is GM05146;muscle biopsy demonstrated neuropathy;see GM05149 lymphocyte;donor subject was found to have a duplication (17p) of the PMP22 gene by MLPA;no mutations were found in the MPZ gene;donor subject also has a homozygous polymorphism: IVS3+64T>C (rs6674383)

characteristic: family id

text: proband

characteristic: gene

text: DUP (17p)

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Charcot-marie-tooth disease type 1a

text: Peripheral myelin protein 22

text: GM05148 male affected PMP22 sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: Subarachnoid hemorrhage

text: 64 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: American Indian

text: Female

text: Subarachnoid hemorrhage

characteristic: tag

text: ND09082 female affected Subarachnoid hemorrhage sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 17 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;hypertrophic neuropathy;palpable nerves in neck and elbow;high arch of feet;moderate loss of intrinsic foot muscles;hammer toe deformities;moderate weakness of all ankle related musculature;atrophy and weakness distally;decreased sensation;affected family members inlcude 2 siblings;mother;6 maternal aunts and uncles;and maternal grandfather;affected mother is GM05147;muscle biopsy demonstrated neuropathy;see GM05148 fibroblast;donor subject was found to have a duplication (17p) of the PMP22 gene by MLPA;no mutations were found in the MPZ gene;donor subject also has a homozygous polymorphism: IVS3+64T>C (rs6674383)

text: proband

text: DUP (17p)

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Charcot-marie-tooth disease type 1a

text: Peripheral myelin protein 22

text: GM05149 male affected PMP22 sample


text: Coriell

text: live

text: Generic

text: Als panel caucasian from the us

text: 58 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Als panel caucasian from the us

text: Amyotrophic lateral sclerosis 1

text: ND09112 male affected Als panel caucasian from the us sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Dystrophia myotonica 1

text: 50 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;weakness in hands noted at age 43;pain in calf muscles after walking and fatigue in legs;problems with balance;palmar erythema on the hands;slight ataxia in lower extremities;slight lordosis;hypoactive reflexes;weakness in all extremity muscles;abnormal esophageal motility;long;thin face;thin extremities and thin chest;weakness of neck flexion;myotonia;myopathic facies;muscle biopsy showed type I fiber atrophy which is characteristic of myotonic dystrophy;EMG exam was consistent with a polyneuropathy and tardy ulnar palsy;donor subject has one normal CTG repeat allele and one allele with a CTG repeat size of approximately 1500 in the DMPK gene;see GM05152 lymphocyte

characteristic: description

characteristic: family id

text: proband

text: DMPK

text: (CTG)n EXPANSION

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Dystrophia myotonica 1

text: GM05151 male affected Dystrophia myotonica 1 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 50 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND09112

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Population/convenience control

text: Neurologically normal caucasian control panel

text: ND09113 female unaffected Control panel for young onset parkinsons: unaffected individuals sample


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: Dystrophia myotonica 1

text: 50 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;weakness in hands noted at age 43;pain in calf muscles after walking and fatigue in legs;problems with balance;palmar erythema on the hands;slight ataxia in lower extremities;slight lordosis;hypoactive reflexes;weakness in all extremity muscles;abnormal esophageal motility;long;thin face;thin extremities and thin chest;weakness of neck flexion;myotonia;myopathic facies;muscle biopsy showed type I fiber atrophy which is characteristic of myotonic dystrophy;EMG exam was consistent with a polyneuropathy and tardy ulnar palsy;donor subject has one normal CTG repeat allele and one allele with a CTG repeat size of approximately 1500 in the DMPK gene;see GM05151 fibroblast

text: proband

text: DMPK

characteristic: gene

text: (CTG)n EXPANSION

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Dystrophia myotonica 1

text: GM05152 male affected Dystrophia myotonica 1 sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

text: Epilepsy

text: 5 YR

text: B-Lymphocyte

text: NINDS Repository

text: maternal cousin

text: Homo sapiens

text: African American

text: Female

text: Epilepsy

characteristic: tag

text: ND09128 female affected Epilepsy sample

characteristic: title


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 47 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Type I bipolar illness;positive family history;onset at age 31;2 episodes of major depression;4 episodes of mania;on Lithium;2 similarly affected sons & 1 daughter;see GM08154 Fibroblast

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: GM05156 female affected Major affective disorder - 125480 or 309200 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 80 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Subarachnoid hemorrhage

text: ND09129 female affected Subarachnoid hemorrhage sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 47 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;PCR analysis of lymphoblast dystrophin gene shows deletion from exon 46 through exon 50;2 affected sons;one of which is GM03929/GM05162;and 2 affected great nephews;same donor as GM05159 lymphocyte.

characteristic: description

text: mother

text: DMD

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Muscular dystrophy: duchenne type

text: DMD

text: Dystrophin

text: GM05158 female unaffected DMD sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Intracranial aneurysm - unruptured

text: 43 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm unruptured: caucasian

text: Intracranial aneurysm - unruptured

text: ND09130 female affected Intracranial aneurysm - unruptured sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 47 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;PCR analysis of lymphoblast dystrophin gene shows deletion from exon 46 through exon 50;2 affected sons;one of which is GM03929/GM05162;and 2 affected great nephews;same donor as GM05158 fibroblast.

text: mother

text: DMD

characteristic: gene

text: arr Xp21.1(31724075-31862584)x1;8p23.1(7237777-7836249)x3

characteristic: karyotype

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Muscular dystrophy: duchenne type

characteristic: tag

text: DMD

text: Dystrophin

text: GM05159 female unaffected DMD sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: Intracranial aneurysm - unruptured

text: 61 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND09131 female affected Intracranial aneurysm - unruptured sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 57 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;PCR analysis of lymphoblast dystrophin gene shows no detectable deletion or duplication;2 affected sons;one of which is GM03929/GM05162;same donor as GM05161 lymphocyte.

characteristic: description

characteristic: family id

text: father

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Muscular dystrophy: duchenne type

text: DMD

text: GM05160 male unaffected Muscular dystrophy: duchenne type sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Intracranial aneurysm - unruptured

text: 32 YR

text: B-Lymphocyte

text: NINDS Repository

text: granddaughter

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Intracranial aneurysm - unruptured

text: ND09132 female affected Intracranial aneurysm - unruptured sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 57 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;PCR analysis of lymphoblast dystrophin gene shows no detectable deletion or duplication;2 affected sons;one of which is GM03929/GM05162;same donor as GM05160 fibroblast.

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Muscular dystrophy: duchenne type

characteristic: tag

text: Apparently healthy non-fetal tissue

text: DMD

text: GM05161 male unaffected Apparently healthy non-fetal tissue sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: Subarachnoid hemorrhage

text: 62 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: aunt

text: Homo sapiens

text: Caucasian

text: Female

text: Subarachnoid hemorrhage

text: ND09133 female affected Subarachnoid hemorrhage sample


text: Coriell

text: live

text: Generic

text: DMD

text: 13 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;diagnosed at age 2;wheelchair bound by age 8;progressive weakness;subacute inversion of ankles;muscle weakness proximally and distally in the lower extremities with inability to move against gravity;muscle strength at +3 for pectoralis group;supraspinatus and infraspinatus;moderate weakness of biceps and triceps;nominal grip bilaterally;absent reflexes;contractures of elbows and lower extremities;muscle biopsy consistent with DMD;PCR analysis of dystrophin gene shows deletion from exon 46 through exon 50;affected brother died at age 16 and 2 male maternal cousins also affected;same donor as GM03929 (lymphocyte).

text: proband

text: DMD

characteristic: gene

characteristic: karyotype

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Muscular dystrophy: duchenne type

text: DMD

text: Dystrophin

text: GM05162 male affected DMD sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 53 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: IRISH;GERMAN

characteristic: ethnicity

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Als panel caucasian from the us

text: Als panel upper-limb onset definite and probable als

text: Amyotrophic lateral sclerosis 1

text: ND09134 male affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Dystrophia myotonica 1

text: 36 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;hand cramping present since childhood;difficulty swallowing;myotonic facies;lack of facial expression;myotonia evident with grip and with percussion of the thenar eminence;significant weakness in the hands;marked weakness of neck flexors;weakness in the foot-toe extensors and foot dorsiflexors;difficulty getting pregnant;donor subject has one normal CTG repeat allele and one allele with a CTG repeat size of approximately 400 in the DMPK gene;affected sister is GM04567;see GM05164 lymphocyte

characteristic: description

text: sister

text: DMPK

text: (CTG)n EXPANSION

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

characteristic: tag

text: Dystrophia myotonica 1

text: GM05163 female affected Dystrophia myotonica 1 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 50 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: GERMAN

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: Neurologically normal caucasian control panel

text: ND09135 female unaffected Control panel for young onset parkinsons: unaffected individuals sample

characteristic: title


characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Dystrophia myotonica 1

text: 36 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;hand cramping present since childhood;difficulty swallowing;myotonic facies;lack of facial expression;myotonia evident with grip and with percussion of the thenar eminence;significant weakness in the hands;marked weakness of neck flexors;weakness in the foot-toe extensors and foot dorsiflexors;difficulty getting pregnant;donor subject has one normal CTG repeat (21) allele and one allele with a CTG repeat size of approximately 340 in the DMPK gene;affected sister is GM04567;see GM05163 fibroblast

text: sister

text: DMPK

characteristic: gene

text: (CTG)n EXPANSION

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Dystrophia myotonica 1

text: GM05164 female affected Dystrophia myotonica 1 sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 60 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: family id

text: sister

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: ND09148 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: Charcot-marie-tooth disease type 1a

text: 51 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;increasing contractures in feet;legs;and hands since teenage years;increasing tightness of fingers over many years;increasing weakness in feet;wheelchair bound for past 3-5 years;dorsal and popliteal pulses unable to be felt;fairly marked contractures of both Achilles tendons;unable to move toes;significant contractures of fingers on both hands;specifically fexion contractures of the third;fourth;and fifth fingers but flexion of the thumb and flexion and extension of the index finger were preserved;unable to elicit any deep tendon reflexes;no pinprick sensation below the mid-forearm;partial sensation to pinprick between mid-forearm and shoulder;normal pinprick on the medial side of the thighs but none on the lateral aspect;no pinprick sensation below knees;unable to raise left leg against gravity;able to raise right knee against gravity but not the heel;able to extend arms 90 degrees;good strength for extension and flexion at elbow;complete atrophy of the intrinsic muscles of both hands;forearm muscles considerably wasted;no palpable enlargement of any peripheral nerves;history of myocardial infarctions;high blood pressure;edema of the legs with secondary stasis dermatitis and ulceration of the foot;and brain hemorrhage at age 29;affected daughter is GM05167;see GM05166 lymphocyte

characteristic: description

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Charcot-marie-tooth disease type 1a

characteristic: tag

text: GM05165 male affected Charcot-marie-tooth disease type 1a sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Epilepsy

text: 24 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: CANADIAN

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy generalized: caucasian

text: Epilepsy

text: ND09154 female affected Epilepsy sample

characteristic: title


characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Charcot-marie-tooth disease type 1a

text: 51 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;increasing contractures in feet;legs;and hands since teenage years;increasing tightness of fingers over many years;increasing weakness in feet;wheelchair bound for past 3-5 years;dorsal and popliteal pulses unable to be felt;fairly marked contractures of both Achilles tendons;unable to move toes;significant contractures of fingers on both hands;specifically fexion contractures of the third;fourth;and fifth fingers but flexion of the thumb and flexion and extension of the index finger were preserved;unable to elicit any deep tendon reflexes;no pinprick sensation below the mid-forearm;partial sensation to pinprick between mid-forearm and shoulder;normal pinprick on the medial side of the thighs but none on the lateral aspect;no pinprick sensation below knees;unable to raise left leg against gravity;able to raise right knee against gravity but not the heel;able to extend arms 90 degrees;good strength for extension and flexion at elbow;complete atrophy of the intrinsic muscles of both hands;forearm muscles considerably wasted;no palpable enlargement of any peripheral nerves;history of myocardial infarctions;high blood pressure;edema of the legs with secondary stasis dermatitis and ulceration of the foot;and brain hemorrhage at age 29;affected daughter is GM05168;see GM05165 fibroblast

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Charcot-marie-tooth disease type 1a

text: GM05166 male affected Charcot-marie-tooth disease type 1a sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 45 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: CANADIAN

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND09155 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: 28 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;high arches of feet;difficulty with running as a teenager;marked equinus deformity of the foot with early hammer toes;marked weakness of the foot extensors;mildly reduced sensation to pin and light touch;walks with slight steppage gait;normal strength in bulk in upper extremities;normal strength of psoas;quadriceps;hamstrings;and gastrocnemius muscles;no palpably enlarged nerves noted peripherally;affected father is RB05165;EMG performed at age 28 was compatible with a rather significant polyneuropathic process of a primary demyelinating type. The findings would be consistent with a clincial suspected diagnosis of Charcot-Marie-Tooth disease.;see GM05168 lymphocyte;donor subject was found to have a duplication (17p) of the PMP22 gene by MLPA;no mutations were found in the MPZ gene;donor subject also has a homozygous polymorphism: IVS3+64T>C (rs6674383)

characteristic: description

text: proband

characteristic: gene

text: DUP (17p)

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Charcot-marie-tooth disease type 1a

text: Peripheral myelin protein 22

text: GM05167 female affected PMP22 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 57 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: CANADIAN

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

characteristic: tag

text: ND09156 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 28 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;high arches of feet;difficulty with running as a teenager;marked equinus deformity of the foot with early hammer toes;marked weakness of the foot extensors;mildly reduced sensation to pin and light touch;walks with slight steppage gait;normal strength in bulk in upper extremities;normal strength of psoas;quadriceps;hamstrings;and gastrocnemius muscles;no palpably enlarged nerves noted peripherally;affected father is GM05166;EMG performed at age 28 was compatible with a rather significant polyneuropathic process of a primary demyelinating type. The findings would be consistent with a clincial suspected diagnosis of Charcot-Marie-Tooth disease.;see GM05167 fibroblast;donor subject was found to have a duplication (17p) of the PMP22 gene by MLPA;no mutations were found in the MPZ gene;donor subject also has a homozygous polymorphism: IVS3+64T>C (rs6674383)

text: proband

text: DUP (17p)

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Charcot-marie-tooth disease type 1a

text: Peripheral myelin protein 22

text: GM05168 female affected PMP22 sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Intracranial aneurysm - unruptured

text: 59 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: family id

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND09163 female affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: DMD

text: 9 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected with Duchenne muscular dystrophy;diagnosis made at age 5 or earlier;calf hypertrophy;progressive weakness;wheelchair bound by age 9 1/2;by age 9 there was muscle weakness;mild scoliosis;ankle contractures;by age 10 there was cardiomyopathy;son of GM05174 (mother) and GM05172 (father);elevated CPK;muscle biopsy characteristic of Duchenne muscular dystrophy;donor subject has a deletion of exons 4-43 in the dystrophin gene as determined by multiplex PCR;same donor as GM05170 Lymphoid

characteristic: description

text: proband

text: DMD

characteristic: gene

text: arr Xp21.1(32170293-32774419)x0

characteristic: karyotype

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Muscular dystrophy: duchenne type

text: DMD

text: Dystrophin

text: GM05169 male affected DMD sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Parkinson disease

text: 57 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Parkinson disease

characteristic: tag

text: ND09168 male affected Parkinson disease sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: DMD

text: 9 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected with Duchenne muscular dystrophy;diagnosis made at age 5 or earlier;calf hypertrophy;progressive weakness;wheelchair bound by age 9 1/2;by age 9 there was muscle weakness;mild scoliosis;ankle contractures;by age 10 there was cardiomyopathy;son of GM05173 (mother) and GM05171 (father);elevated CPK;muscle biopsy characteristic of Duchenne muscular dystrophy;donor subject has a deletion of exons 4-43 in the dystrophin gene as determined by multiplex PCR;same donor as GM05169 Fibroblast

text: proband

text: DMD

text: arr Xp21.1(32170293-32774419)x0

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Muscular dystrophy: duchenne type

text: DMD

text: Dystrophin

text: GM05170 male affected DMD sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 61 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: family id

text: spouse

text: Homo sapiens

text: Female

text: Population/convenience control

text: ND09169 female unaffected Ninds repository hispanic control plate- coaims tested sample


text: Coriell

text: live

text: Generic

text: 49 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;father of an affected child (GM05170);same donor as GM05172 Lymphoid

characteristic: description

text: father

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Muscular dystrophy: duchenne type

text: DMD

text: GM05171 male unaffected Muscular dystrophy: duchenne type sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 29 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: daughter

text: Homo sapiens

text: Female

text: ND09170 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 49 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically unaffected;father of an affected child (GM05169);same donor as GM05171 Fibroblast

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Muscular dystrophy: duchenne type

text: DMD

text: GM05172 male unaffected Muscular dystrophy: duchenne type sample


text: Coriell

text: live

text: Generic

text: 46 YR

text: B-Lymphocyte

text: NINDS Repository

text: Spouse of proband ND09183

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Population/convenience control

characteristic: tag

text: ND09182 female unaffected Population/convenience control 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;mother of an affected child (GM05170);same donor as GM05174 Lymphoid

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Muscular dystrophy: duchenne type

text: DMD

text: GM05173 female unaffected Muscular dystrophy: duchenne type sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Parkinson disease

text: 48 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: Young onset parkinsons disease: affected individuals

text: ND09183 male affected Parkinson disease sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 40 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;mother of an affected child (GM05169);same donor as GM05173 Fibroblast

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Muscular dystrophy: duchenne type

text: DMD

text: GM05174 female unaffected Muscular dystrophy: duchenne type sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 62 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: cousin

text: Homo sapiens

text: Caucasian

text: Male

text: ND09184 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 25 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Type I;blue sclerae;fractures;& normal hearing;3 sibs & mother are affected;French-Canadian

characteristic: description

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: GM05181 male affected OSTEOGENESIS IMPERFECTA: AUTOSOMAL DOMINANT - 166200, 166210, 166220 or 166230 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 79 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Als panel caucasian from the united states

text: Als panel caucasian from the us

text: Amyotrophic lateral sclerosis 1

text: ND09185 male affected ALS1 sample


text: Coriell

text: live

text: Generic

text: 46 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Type I;blue sclerae;fractures;& hearing loss;4 affected children;FrenchCanadian

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

characteristic: tag

text: GM05182 female affected OSTEOGENESIS IMPERFECTA: AUTOSOMAL DOMINANT - 166200, 166210, 166220 or 166230 sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 45 YR

text: B-Lymphocyte

text: NINDS Repository

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: ND09186 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 49 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Wife has had three 1st trimester spontaneous abortions;see GM05184 Lymphoid

text: ITALIAN

characteristic: ethnicity

text: proband

text: 46;XY;t(6;7)(6pter>6q21::7q21.2>7qter;7pter>7q21.2::6q21>6qter);46;XY;t(6;7)(6pter>6q21::7q21.2>7qter;7pter>7q21.2::6q21>6qter)

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Translocated chromosome

text: GM05183 male unaffected Translocated chromosome sample