text: Coriell

text: live

text: Generic

text: Arterial, ecchymotic type

text: 51 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;history of aortic dissection/aneurysm and rupture;pain in shoulders (frequent dislocations);lumbar spine;left hip;and knees;micrognathia;abnormal pharynx;blue sclerae;carotid bruit left and right;cyanosis;varicosities;prior heart attack;blood pressure 123/78;skin soft texture and cigarette paper scars;keloids;bruising;scoliosis;hyperextension in shoulders and elbows;limitation in hips;pes planus;genu valga;uncovertebral spur on leftside at C5 to C7 causing spinal canal stenosis in lateral recess;see GM21566 Lymphoid;donor subject is heterozygous for a C>T transition at nucleotide 3070 in exon 43 of the COL3A1 gene (c.3070C>T) resulting in the substitution of a stop codon for an arginine at codon 1024 Arg1024Ter (R1024X)

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Arterial, ecchymotic type

characteristic: tag

text: Ehlers-danlos syndrome: type iv

text: Collagen type iii alpha-1

text: GM21567 male affected Arterial, ecchymotic type sample

characteristic: title


status: PUBLIC

characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 77 YR

tag: attribute

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected brother of ND00977

characteristic: description

characteristic: family id

text: brother

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: ND02075 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 58 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;joint pain and swelling;muscle pain and weakness;gingivitis;high palate;blue and gray sclerae;vision requires correction with glasses;pectus carinatum;upper abdomen is tender;systolic murmur in 3/6 mitral valve;left and right carotid bruit;soft skin;easy bruising;piezogenic papules;cervical kyphosis;scoliosis present degree R in upper thoracic spine;hyperextension in shoulders and knees;joint limitation in elbows hips;and CMC;MCP;PIP and DIP joints;PIP and DIP joints have bony enlargements and tenderness;pes planus;genu valga;on Synthroid for hyperthyroidism;moderate disc disease at C5-C7 and L5-S1 spine;central disc protrusion at L4-L5;facet arthrosis;affected daughter is GM21569

text: proband

text: Homo sapiens

text: Hispanic/Latino

text: Female

text: GM21570 female affected Ehlers-danlos syndrome: type unclassified sample


text: Coriell

text: live

text: Generic

text: 38 YR

text: B-Lymphocyte

text: NINDS Repository

text: son

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: ND02078 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Ehlers-danlos syndrome type ii

text: 35 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;post nasal drip;thirsty;pain in head;neck;shoulder and lumbar spine;dizzy;recent blood in stool;soft auricles;gingivitis;high palate;absent gag reflex;blue sclerae;mild downsloping ribs;mild pectus excavatum;pain in lower abdomen;blood pressure = 115/50;soft hyperextensible skin;cigarette paper and keloid scarring;midthigh striae;history of poor wound healing;many piezogenic papules;scoliosis in lower spine;flattening of thoracic spine;hyperextension of shoulders;elbows;hips and knees;hyperextension of B #4;5 PIP and DIP joints;hyperflexion of neck;pes planus;mild arachnodactyly;Beighton score 7/9;retroflexed odontoid with pannus and bone spurs in thoracic spine;dural ectasia in lumbar spine;disc buldge L5-S1 with facet arthrosis;no mutation found in the COL5A1 gene

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Ehlers-danlos syndrome type ii

text: GM21590 female affected Ehlers-danlos syndrome type ii sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Epilepsy

text: 17 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother is ND02083

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy generalized: caucasian

text: Epilepsy

text: ND02082 female affected Epilepsy sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically normal father of an affected son;donor subject is heterozygous for a C>G transversion at nucleotide 839 in exon 7 of the ERCC1 gene (839C>G) resulting in the subsitution of leucine for phenylalanine at codon 231 Phe231Leu (F231L);proband is not in Repository

text: ITALIAN

characteristic: ethnicity

text: father

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Excision-repair, complementing defective, in chinese hanster, 1

text: Cerebrooculofacioskeletal syndrome 4

text: GM21645 male unaffected ERCC1 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 46 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother of ND02082

characteristic: description

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND02083 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 55 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Participant #3 (huBEDA0B) in the Personal Genome Project: http://www.personalgenomes.org

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Apparently healthy non-fetal tissue

text: Personal genome project

text: GM21660 female unaffected Apparently healthy non-fetal tissue sample


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: 40 YR

text: B-Lymphocyte

text: NINDS Repository

text: niece

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND02085 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Arterial, ecchymotic type

text: 40 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;abnormal motility of procollagen III;migraines resolved after pill;slight hearing loss;history of blood in urine;abnormal nasal bridge;micrognathia;blue-grey sclerae;heart murmur;midsystolic click;cyanosis;varicosities in lower legs;blood pressure 104/44;soft translucent velvety skin;piezogenic papules;scoliosis;hyperextension of shoulders;hips and knees;limited neck mobility;pes planus;disc disease noted at C4-C5 and C5-C6 with mild spinal canal stenosis;see GM21663 Fibroblast;donor subject is heterozygous for a G>A change at nucleotide 1618 of the COL3A1 gene (c.1618G>A) resulting in a substitution of arginine for glycine at codon 373 Gly373Arg (G373R)

text: proband

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Arterial, ecchymotic type

text: Ehlers-danlos syndrome: type iv

text: Collagen type iii alpha-1

text: GM21662 female affected Arterial, ecchymotic type sample


text: Coriell

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 60 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Subarachnoid hemorrhage

text: Subarachnoid hemorrhage, caucasian from north america

text: ND02086 female affected Subarachnoid hemorrhage sample


text: Coriell

text: live

text: Generic

text: Arterial, ecchymotic type

text: 40 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;abnormal motility of procollagen III;migraines resolved after pill;slight hearing loss;history of blood in urine;abnormal nasal bridge;micrognathia;blue-grey sclerae;heart murmur;midsystolic click;cyanosis;varicosities in lower legs;blood pressure 104/44;soft translucent velvety skin;piezogenic papules;scoliosis;hyperextension of shoulders;hips and knees;limited neck mobility;pes planus;disc disease noted at C4-C5 and C5-C6 with mild spinal canal stenosis;see GM21662 Lymphoid;donor subject is heterozygous for a G>A transition at nucleotide 1618 of the COL3A1 gene (c.1618G>A) resulting in a substitution of arginine for glycine at codon 373 Gly373Arg (G373R)

characteristic: description

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Arterial, ecchymotic type

text: Ehlers-danlos syndrome: type iv

text: Collagen type iii alpha-1

text: GM21663 female affected Arterial, ecchymotic type sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 53 YR

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Subarachnoid hemorrhage

text: ND02087 male affected Subarachnoid hemorrhage sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Fibromuscular dysplasia of arteries

text: 44 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;bilateral renal aneurysm;micrognathia;high palate;systolic murmur;carotid bruit left and right;aortic bruit present;soft skin;cigarette paper scars;striae;Piezogenic papules;degree R scoliosis in lumbar spine;hyperextension in shoulders;elbows;hips and right knee;limited neck mobility;pes planus;sacral dimple;mild facet arthrosis at L3-S1;mild dural ectasia;history of stenosis;see GM21665 Fibroblast

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Fibromuscular dysplasia of arteries

characteristic: tag

text: GM21664 female affected Fibromuscular dysplasia of arteries sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Intracranial aneurysm - unruptured

text: 59 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm unruptured: caucasian

text: Intracranial aneurysm - unruptured

text: ND02088 female affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

text: Generic

text: Fibromuscular dysplasia of arteries

text: 44 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;bilateral renal aneurysm;micrognathia;high palate;systolic murmur;carotid bruit left and right;aortic bruit present;soft skin;cigarette paper scars;striae;Piezogenic papules;degree R scoliosis in lumbar spine;hyperextension in shoulders;elbows;hips and right knee;limited neck mobility;pes planus;sacral dimple;mild facet arthrosis at L3-S1;mild dural ectasia;history of stenosis;see GM21664 Lymphoid

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Fibromuscular dysplasia of arteries

text: GM21665 female affected Fibromuscular dysplasia of arteries sample


text: Coriell

text: live

text: Generic

text: Epilepsy

text: 9 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother is ND02112;unaffected sister is ND02111

characteristic: description

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy generalized: caucasian

text: Epilepsy

text: ND02110 female affected Epilepsy sample


text: Coriell

text: live

text: Generic

text: Neurofibromatosis type i

text: 11 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;no family history;Lisch nodules;hypertension;pseudoarthrosis;thinning of long bone cortex;cafe-au-lait spots;axillary freckling;see GM21675 Fibroblast

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Neurofibromatosis type i

text: GM21674 female affected Neurofibromatosis type i sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 5 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected sister of ND02110;unaffected mother is ND02112

text: sister

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: ND02111 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Neurofibromatosis type i

text: 11 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;no family history;Lisch nodules;hypertension;pseudoarthrosis;thinning of long bone cortex;cafe-au-lait spots;axillary freckling;see GM21674 Lymphoid

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Neurofibromatosis type i

text: GM21675 female affected Neurofibromatosis type i sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 37 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother of one affected daughter (ND02110) and one unaffected daughter (ND02111)

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND02112 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 52 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Participant #5 (hu9385BA) in the Personal Genome Project: http://www.personalgenomes.org Matching fibroblast culture from this same subject is GM23250

text: proband

text: 47;XY;+9 2 /46;XY 48

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Personal genome project

characteristic: tag

text: GM21687 male unaffected Personal genome project sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 43 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: ND02116 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 15 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Poor sucking;excessive drooling and difficulty swallowing were present in the neonatal period;developmental delay;epilepsy began at age 18 months with atonic attacks accompanied by cyanosis and rapidly followed by vomitting;without loss of consciousness;short neck;low frontal hairline;abnormal hair pattern;flat nasal bridge;hypertelorism;asymmetric face;short palpebral fissures;micrognathia;high arched palate;posteriorly rotated ears with hypertrophy of the antihelices;hypospadias;phimosis;hypotonia;hyperextensible joints;strabismus;hypermetropia;moderate mental retardation;hyperactivity;brain MRI showed colpocephaly;hypoplasia of the splenium of the corpus callosum;hypoplasia of the pons;and mild hypertrophy of the massa intermedia

characteristic: description

text: 46;XY;del(6)(pter->q26:).ish del(6)(wcp6+;D62522-).arr 6q26q27(162860228-170761408)x1;46;XY;del(6)(pter>q26:).ish del(6)(wcp6+;D62522-)

text: Homo sapiens

text: Caucasian

text: Male

text: Copy number variation (cnv) reference panel

text: Chromosome deletion

text: GM21698 male unaffected Chromosome deletion sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 50 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: brother

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: ND02129 male 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: 24 WK

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: 47;XY;+4;del(6)(pter>q26:) 7 /46;XY;del(6)(pter>q26:) 3 .ish del(6)(wcp6+;D62522-);47;XY;+4;del(6)(q26) 7 /46;XY;del(6) 3 .ish del(6)(wcp6+;D62522-).arr 4p16.3q35.2(3277-191195124)x2~3;6q26q27(163582043-170824447)x1

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Chromosome deletion

text: GM21699 male unaffected Chromosome deletion sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Subarachnoid hemorrhage

text: 51 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Subarachnoid hemorrhage

text: Subarachnoid hemorrhage, caucasian from north america

text: ND02131 female affected Subarachnoid hemorrhage sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 7 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Long standing history of cognitive and socialization difficulties as well as a history of self-stimulatory behaviors;social peer interaction difficulties;and mild regimentation;delivered by C-section with a birth weight of 6 lbs 9 oz;apgar scores of 8 and 9 at 1 and 5 minutes respectively;developmental and motor delay;did not sit independently until 12 months of age;walked at 15 months;did not develop consistent short phrases until 36 months;bladder control at 36 months;shy;prefers to be alone;echolalia;receives occupational and speech therapy a few times a week;constipated;interative and loving with his immediate family

text: AFRICAN-AMERICAN

characteristic: ethnicity

text: 46;XY;dup(15)(pter>q13::q11>qter).ish dup(15)(D15Z1+;D15S11++;GABRB3++)

characteristic: karyotype

text: Homo sapiens

text: Black

text: Male

characteristic: tag

text: Duplicated chromosome

text: GM21715 male unaffected Chromosome 15q11-q13 duplication syndrome sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 82 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse is ND02141

text: proband

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinsons panel: caucasian from the united states

text: PD

text: Parkinson disease

text: ND02140 male affected Parkinson disease sample

characteristic: title


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: 52 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Participant #6 (hu04FD18) in the Personal Genome Project: http://www.personalgenomes.org

characteristic: description

text: POLISH ASHKENAZI JEWISH

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Apparently healthy non-fetal tissue

text: Personal genome project

text: GM21730 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 83 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse of ND02140

characteristic: family id

text: spouse

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Population/convenience control

text: ND02141 female unaffected Population/convenience control sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 55 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Participant #7 (hu0D879F) in the Personal Genome Project: http://www.personalgenomes.org

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

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Apparently healthy non-fetal tissue

characteristic: tag

text: Personal genome project

text: GM21731 male unaffected Apparently healthy non-fetal tissue sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: PD

text: 62 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse is ND02143

text: proband

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: ND02142 male affected PD sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: VCP

text: 46 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;myopathy with onset at 45 years of age;Paget and muscle disease with onset at age 32;signs of depression and substance abuse;dementia with onset at age 47;serum creatine phosphokinase is 324 U/L;serum bone-specific alkaline phosphatase is 397 U/L;radiographs showed thickening of the iliopectineal line with enlargement of the right iliac bone and picture framing and enlargement of the L1 vertebral body;donor subject is heterozygous for a G>A transition at nucleotide 464 in exon 5 of the VCP gene (464G>A) resulting in the substitution of histidine for arginine at codon 155 Arg155His(R155H);see GM21752 Fibroblast

characteristic: description

text: proband

text: VCP

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Inclusion body myopathy with early-onset paget disease and frontotemporal dementia

text: IBMPFD

text: VCP

text: Valosin-containing protein

text: GM21751 male affected VCP sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 54 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse of ND02142

characteristic: family id

text: spouse

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Population/convenience control

text: ND02143 female unaffected Population/convenience control sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: VCP

text: 46 YR

characteristic: age

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;myopathy with onset at 45 years of age;Paget and muscle disease with onset at age 32;signs of depression and substance abuse;dementia with onset at age 47;serum creatine phosphokinase is 324 U/L;serum bone-specific alkaline phosphatase is 397 U/L;radiographs showed thickening of the iliopectineal line with enlargement of the right iliac bone and picture framing and enlargement of the L1 vertebral body;donor subject is heterozygous for a G>A transition at nucleotide 464 in exon 5 of the VCP gene (464G>A) resulting in the substitution of histidine for arginine at codon 155 Arg155His(R155H);see GM21751 Lymphoid

text: proband

text: VCP

text: Homo sapiens

text: Caucasian

text: Male

text: IBMPFD

text: VCP

text: Valosin-containing protein

text: GM21752 male affected VCP sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: PD

text: 69 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Affected sister is ND03004

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Late onset parkinsons dna panel: affected individuals

characteristic: tag

text: PD

text: Parkinson disease

text: ND02145 male affected PD sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 1 DA

text: Keratinocyte

text: NIGMS Human Genetic Cell Repository

text: Foreskin keratinocyte cell culture;this culture tested 99% positive for keratinocyte cell-specific cytokeratin (immunocytochemistry assay);other cultures from this same donor are GM21808 (fibroblast) and GM21810 (melanocyte)

text: proband

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Apparently healthy non-fetal tissue

text: Multiple cell types from same subject - foreskin

text: GM21806 male unaffected Apparently healthy non-fetal tissue sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 47 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Intracranial aneurysm unruptured: caucasian

text: Intracranial aneurysm - unruptured

text: ND02156 female affected Intracranial aneurysm - unruptured sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 1 DA

text: Melanocyte

text: NIGMS Human Genetic Cell Repository

text: Foreskin melanocyte cell culture;this culture tested 99% positive for melanocyte cell-specific gp100 (immunocytochemistry assay);another culture from this same donor is GM21811 (fibroblast)

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Apparently healthy non-fetal tissue

text: GM21807 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 69 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: brother

text: Homo sapiens

text: More than one race

text: Male

text: ND02158 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 1 DA

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Foreskin fibroblast cell culture;other cultures from this same donor are GM21810 (melanocyte) and GM21806 (keratinocyte)

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Apparently healthy non-fetal tissue

text: GM21808 male unaffected Apparently healthy non-fetal tissue sample

type: derived from


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 62 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Intracranial aneurysm - unruptured

text: ND02159 male affected Intracranial aneurysm - unruptured sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 1 DA

text: Melanocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Foreskin melanocyte cell culture;this culture tested 90% positive for melanocyte cell-specific gp100 (immunocytochemistry assay);other cultures from this same donor are GM21808 (fibroblast) and GM21806 (keratinocyte)

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Apparently healthy non-fetal tissue

characteristic: tag

text: GM21810 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Epilepsy

text: 15 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother is ND02164

text: proband

text: Homo sapiens

text: Asian

text: Male

text: Epilepsy

text: ND02163 male affected Epilepsy sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 1 DA

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Foreskin fibroblast cell culture;another culture from this same donor is GM21807 (melanocyte)

text: proband

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Apparently healthy non-fetal tissue

text: GM21811 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 32 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother of ND02163

characteristic: description

text: mother

text: Homo sapiens

text: Asian

characteristic: race

text: Female

text: ND02164 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Sickle cell anemia

text: 33 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;originally from Bermuda;diagnosed at birth;first crisis at age 5 years;frequent long hospitalizations in childhood;pneumonia;hand-foot syndrome;hospitalized at age 32 with left eye hemorrhage resulting in lasik treatment;pain focalized in back and chest;currently has left ankle ulcer;first pregnancy was complicated with preeclampsia and premature delivery (30 wks);not currently on transfusion program;high level of fetal hemoglobin

text: Homo sapiens

text: Black

text: Female

text: Sickle cell anemia

text: GM21816 female affected Sickle cell anemia sample


text: Coriell

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 67 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: sister

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Subarachnoid hemorrhage

text: ND02165 female affected Subarachnoid hemorrhage sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: VCP

text: 65 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;myopathy with onset at 33 years of age;Paget disease with onset at 37 years of age;serum creatine phosphokinase is 192 U/L;serum bone-specific alkaline phosphatase is 127 U/L;radiographs show slight enlargement of the vertebral body (T10) in the thoracic spine;as well as sclerotic changes;enlargement and picture framing of a vetebral body (L3) in the lumbar spine;donor subject is heterozygous for a G>A transition at nucleotide 464 in exon 5 of the VCP gene (464G>A) resulting in the substitution of histidine for arginine at codon 155 Arg155His(R155H);see GM21829 Fibroblast

text: proband

text: VCP

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Inclusion body myopathy with early-onset paget disease and frontotemporal dementia

text: IBMPFD

text: VCP

text: Valosin-containing protein

text: GM21827 female affected VCP sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 70 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: paternal first cousin

text: Homo sapiens

text: Caucasian

text: Female

text: Subarachnoid hemorrhage

characteristic: tag

text: ND02168 female affected Subarachnoid hemorrhage sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: VCP

text: 65 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;myopathy with onset at 33 years of age;Paget disease with onset at 37 years of age;serum creatine phosphokinase is 192 U/L;serum bone-specific alkaline phosphatase is 127 U/L;radiographs show slight enlargement of the vertebral body (T10) in the thoracic spine;as well as sclerotic changes;enlargement and picture framing of a vetebral body (L3) in the lumbar spine;donor subject is heterozygous for a G>A transition at nucleotide 464 in exon 5 of the VCP gene (464G>A) resulting in the substitution of histidine for arginine at codon 155 Arg155His(R155H);see GM21827 Lymphoid

characteristic: description

text: proband

text: VCP

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: IBMPFD

text: VCP

text: Valosin-containing protein

text: GM21829 female affected VCP sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Intracranial rupture-status undefined

text: 46 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Intracranial rupture-status undefined

text: ND02169 female affected Intracranial rupture-status undefined sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: 46 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Participant #9 in the Personal Genome Project: http://www.personalgenomes.org Matching fibroblast culture from this same subject is GM23251

characteristic: family id

text: proband

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Apparently healthy non-fetal tissue

text: Personal genome project

text: GM21833 female unaffected Apparently healthy non-fetal tissue sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 21 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: great nephew

text: Homo sapiens

text: Caucasian

text: Male

text: ND02170 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Neurofibromatosis type i

text: 68 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;two affected sons (one now deceased from a malignant brain tumor);one daughter (GM21844) and two grandsons are clearly affected;one daughter (GM21845) is self reported as asymptomatic;but has an affected child

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Neurofibromatosis type i

characteristic: tag

text: GM21843 female affected Neurofibromatosis type i sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Intracranial aneurysm - unruptured

text: 51 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Intracranial aneurysm - unruptured

text: ND02174 male affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

text: Generic

text: Neurofibromatosis type i

text: 45 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;metastatic neurofibromatosis;right temporal lobe tumor treated with lobectomy at age 30;right pelvic malignant peripheral nerve sheath tumor involving L4;L5 nerve root treated with resection at age 43;after complaining of neck and arm pain;subject was found to have multiple lytic metastases involving the pedicle and posterior elements of C2 on the right;the body of C4;and the body of T1 with pathologic compression fracture of T1 and the left transverse process of C7;subject assessed as not good candidate for surgery and was fitted with an Aspen collar and will receive home hospice care;affected mother is GM21843;asymptomatic sister with an affected child is GM21845

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Neurofibromatosis type i

text: GM21844 female affected Neurofibromatosis type i sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 61 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND02175 female affected Intracranial aneurysm - unruptured sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 43 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically self reported as asymptomatic;mother (GM21843);sister (GM21844);two brothers;nephew and son are all clearly affected

text: sister

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Neurofibromatosis type i

text: GM21845 female unaffected Neurofibromatosis type i sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 50 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: ND02176 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: 49 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Participant #10 (hu604D39) in the Personal Genome Project: http://www.personalgenomes.org

text: AFRICAN-AMERICAN

characteristic: ethnicity

text: 45;X 2 /46;XY 48

characteristic: karyotype

text: Homo sapiens

text: Black

text: Male

text: Apparently healthy non-fetal tissue

text: Personal genome project

text: GM21846 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 45 YR

text: B-Lymphocyte

text: NINDS Repository

text: son

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: ND02178 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: AT

text: 15 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;ataxia first observed at age 12 years;telangiectasias of the eyes observed at age 11 years;spontaneous chromosome breakage;elevated serum alpha fetoprotein;no family history of cancer;donor subject has one allele with a 3 bp deletion and 4 bp insertion at nucleotide 3245 in exon 24 of the ATM gene (3245ATC>TGAT) resulting in a shift in the open reading frame and introducing a premature stop codon several amino acids downstream at codon 1095 His1082Ter(H1082X);the mutation on the other allele is as yet unidentified

characteristic: description

text: SCOTTISH/ENGLISH

text: ATM

characteristic: gene

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: AT

text: Ataxia-telangiectasia

text: Ataxia-telangiectasia mutated gene

text: ATM

text: GM21849 male affected AT sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Epilepsy

text: 11 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: PATERNAL AUNT;DOWNS SYNDROME;SHAKING SEIZURES

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Epilepsy generalized: caucasian

text: Epilepsy

text: ND02180 male affected Epilepsy sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Neurofibromatosis type i

text: 22 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;diagnosed at age 8 years;has had over 30 tumors removed;most having caused nerve damage;it is assumed that NF caused him to lose his sight in the right eye;a scan showed numerous tumors throughout the body and an inoperable one in the brain;affected grandmother is GM21843 and affected maternal aunt is GM21844;asymptomatic mother is GM21845;see GM22279 Fibroblast

text: nephew

text: Homo sapiens

text: Caucasian

text: Male

text: Neurofibromatosis type i

text: GM21865 male affected Neurofibromatosis type i sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 45 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND02181 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

text: live

text: Generic

text: RBS

text: 20 FW

characteristic: age

text: Amniotic fluid-derived cell line

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;ultrasound of fetus at 18 weeks revealed: large frontal encephalocele;abnormal face;widely spaced orbits;bulging eyes;flat midface;all four proximal and distal limbs extremely reduced;flipper-like hands attached at shoulders with only three digits;and feet attached to pelvis had five digits;amniotic fluid had elevated alpha-fetoprotein and was positive for acetylcholinesterase consistent with an open neural tube defect;chromosome spread from cultured cells showed heterochromatin repulsion;microcephaly;donor subject is a compound heterozygote: one allele has a 1 bp deletion at nucleotide 752 in exon 3 of the ESCO2 gene (c.752delA) resulting in a frameshift leading to a premature stop codon and a predicted protein truncation (p.K253fsX12);the second allele has an A>G substitution in intron 6 c.IVS6-7A>G (c.1132-7A>G) which activates a cryptic splice site (p.I377_378insLX)

characteristic: description

characteristic: gene

text: 46;XX;der(1;6)(6pter>6p10::1q10>1qter) 20 /45;X;der(1;6);-6 3 /45;XX;der(1;6);-6;-19 2 .ish der(1;6)(wcp6+;D6Z1+;D1Z5+;wcp1+)

characteristic: karyotype

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: RBS

text: Roberts syndrome

text: Establishment of cohesion 1, s. cervisiae, homolog of 2

text: GM21873 female affected RBS sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 47 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: ND02182 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Prader-willi syndrome

text: 8 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;at age 19 months was diagnosed with IgG-4 deficiency and therapy with intravenous gamma-globulin was started;undescended testicles did not respond to beta-human chorionic gonadotropin;diagnosed with hypertension at age 2;hypotonia;failure to thrive;poor suck;eating behavior leading to weight gain;narrow bifrontal diameter;almond-shaped upslanted palpebral fissures;narrow arched palate;did not have small hands or feet

text: AFRICAN-AMERICAN

characteristic: ethnicity

text: 46;XY;t(4;15)(4pter>4q27::15q11>15qter;15pter>4q27>4qter).ish(t)(4;15)(D15S11-;SNRPN+;GABRB3+;PML+;D15S11+;SNRPN+;GABRB3-PML-);

text: Homo sapiens

text: Black

text: Male

characteristic: sex

text: Translocated chromosome

text: PWS

text: Prader-willi syndrome

text: GM21889 male affected Prader-willi syndrome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 46 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: sister

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND02192 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: Growth hormone insensitivity syndrome

text: 5 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;height 74.4 cm;random growth hormone level was 34;IGF-I level was less than 10 (normal 70-288);IGF-II level was 16 (normal 334-642);IGFBP3 level was 0.11 (normal 1.5-3.4);GHBP activity was 5.2% of normal;donor subject is presumed homozygous for a 2 bp deletion involving codon 230 in exon 7 of the GHR gene (either TA or AT) causing a frameshift and an in-frame stop codon 4 codons downstream fs234Ter;homozygosity could not be confirmed due to the unavailability of parental samples;clinically affected sister is GM22223

characteristic: description

text: SOUTH AFRICAN

text: proband

text: GHR

characteristic: gene

characteristic: mutation

text: 2-BP DEL

text: Homo sapiens

text: Black

text: Female

text: GHR

text: Growth hormone receptor

text: Growth hormone insensitivity syndrome

text: GM21902 female affected Growth hormone insensitivity syndrome sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 57 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: half-brother

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: ND02193 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 15 MO

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;congenital encephalopathy;hypotonia;hypoventlation;seizures with abnormal EEG;apnea;gastroesophageal reflux with failure to thrive;tube fed;respiratory failure at 5 months of age;high narrow palate;myopathic hypotonic facies;died at 15.5 months from central respiratory failure due to pneumonia;skin biopsy used to make this culture was taken 2 days prior to death;donor subject was hemizygous for a microdeletion in exon 4 of the MECP2 gene (r.378_384delTCCCCAG) resulting in a frameshift that leads to a premature stop codon (p.I126fsX11)

text: Homo sapiens

text: More than one race

text: Male

characteristic: sex

text: Methyl-cpg-binding protein 2

text: GM21921 male affected Encephalopathy, neonatal severe, due to mecp2 mutations sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 54 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: half-sister

text: Homo sapiens

text: Caucasian

text: Female

text: ND02194 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: MFS

text: 33 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;arachnodactyly;long extremities;scoliosis requiring surgery;high palate;pes planus;joint hyperextensibility;at age 5 years both lenses were removed because of dislocations and cataracts;aortic dilatation and mitral valve prolapse were noted at age 9 years;replacement of ascending aorta and aortic valve was done at age 27 years;mitral valve replacement done at age 28 years;her mother had myopia and arachnodactyly and died of an unknown cause at age 43 years;donor subject has a G>A change at nucleotide 3350 in exon 27 of the FBN1 gene (3350G>A) resulting in the substitution of tyrosine for cysteine at codon 1117 Cys1117Tyr (C1117Y)

characteristic: description

text: Homo sapiens

text: Caucasian

text: Female

text: Fibrillin 1

characteristic: tag

text: MFS

text: Marfan syndrome

text: GM21930 female affected MFS sample


text: Coriell

text: live

text: Generic

text: 55 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: paternal first cousin

text: Homo sapiens

text: Caucasian

text: Female

text: ND02195 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: MFS

text: 48 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;long extremities;tall stature;marked pectus excavatum;no ocular manifestations;aortic aneurysm and mitral valve prolapse were noted at age 45 years;she underwent replacement of the aortic root and ascending aorta with a composite graft;two affected sons;donor subject has a 17 bp deletion at nucleotide 3464 in exon 28 of the FBN1 gene (3464del17) resulting in a frameshift and a stop codon at 1186

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Fibrillin 1

text: MFS

text: Marfan syndrome

text: GM21931 female affected MFS sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 62 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: paternal second cousin

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: ND02197 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: MFS

text: 25 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;marked contractures of the elbows;knees;hips;fingers;ankles;and toes since birth;myopia with misshapen and dislocated lenses that were removed at age 18;at age 24 years he underwent aortic root replacement for annuloaortic ectasia and aneurysm of the ascending aorta;high narrow palate with dental crowding;no chest deformity or scoliosis;negative thumb and wrist signs;external ears low-set and malformed;but not crumpled;no family history;donor subject has a G>T change at nucleotide 4766 in exon 38 of the FBN1 gene (4766G>T) resulting in the substitution of phenylalanine for cysteine at codon 1589 Cys1589Phe (C1589F)

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Fibrillin 1

text: MFS

text: Marfan syndrome

text: GM21932 male affected MFS sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Multiple system atrophy

text: 66 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected daughter is ND02203

text: IRISH/ENGLISH

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Multiple system atrophy

text: ND02201 female affected Multiple system atrophy sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: MFS

text: 36 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;mildly dilated aortic root with diameters of 22mm at the annulus;40mm at 1cm above the annulus;and 41mm maximum dilation;mitral valve prolapse;height 184cm;arm span of 186.7cm;thumb and wrist signs were negative;long narrow face;slightly high palate;minor asymmetry of the anterior chest wall;no scoliosis;joint hyperextensibility;sternal deformity;or contractures;no lens dislocation;shoe size 12 1/2;donor subject has a G>A change at nucleotide 3379 in exon 27 of the FBN1 gene (3379G>A) resulting in the substitution of serine for glycine at codon 1127 Gly1127Ser (G1127S)

characteristic: description

text: DUTCH

text: Homo sapiens

text: Caucasian

text: Female

text: Fibrillin 1

characteristic: tag

text: MFS

text: Marfan syndrome

text: GM21938 female affected MFS sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 65 YR

text: B-Lymphocyte

text: NINDS Repository

text: Diag is

characteristic: family id

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: ND02202 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 31 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;father of an affected child (GM22006)

text: SOUTH AFRICAN

text: father

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: More than one race

characteristic: race

text: Male

text: MVA

text: Mosaic variegated aneuploidy syndrome

text: GM22004 male unaffected Mosaic variegated aneuploidy syndrome sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 46 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected daughter of ND02201

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: ND02203 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Mosaic variegated aneuploidy syndrome

text: 21 MO

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;at birth she had poor sucking reflex;two episodes of pneumonia before age 6 months;developmental delay;normal MRI of brain;microcephaly;hypotelorism;epicanthal folds;two cafe-au-lait spots;large capillary hemangioma posteriorly over her left chest present since birth

text: SOUTH AFRICAN

text: proband

text: 47;XXX 2 /44;XX;-7;-8 1 /45;XX;-13 1 /45;XX;-18 1 /45;XX;-20 1 /46;XX 44;47;XXX 7 /45;X 1 /44;XX;-7;-8 1 /44;XX;-7;-16 1 /45;XX;-6 1 /45;XX;-13 1 /45;XX;-15 1 /45;XX;-20 1 /47;XX;+4 1 /47;X;+4;+21 1 /47;XX;+4 1 /47;XX;+6 1 /47;XX;+12 1 /46;XX 181

text: Homo sapiens

text: More than one race

text: Female

text: MVA

text: Mosaic variegated aneuploidy syndrome

text: GM22006 female affected Mosaic variegated aneuploidy syndrome sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Parkinson disease

text: 55 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND02206

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Young onset parkinsons dna panel: affected individuals

characteristic: tag

text: PD

text: Parkinson disease

text: ND02205 female affected Parkinson disease sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Propionic acidemia

text: 7 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;diagnosed in first week of life;no family history of PA;acute pancreatitis;normal gut motility;G-tube for 100% of feeding;vomitting at least once a week;had seizures only during birth crisis;chronic neutropenia;immune deficiency;first walked at 20 months of age;uses assisting language technology;moderately impaired cognitive ability;IQ of 41;chronic hyperammonemia (<2 times normal);currently on metabolic formula and levocarnitine;donor subject is homozygous for a G216fs mutation in exon 8 of the PCCA gene

text: proband

text: PCCA

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: PCCA

text: Propionic acidemia

text: Propionyl-coa carboxylase alpha subunit

text: GM22010 male affected Propionic acidemia sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 56 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND02205

characteristic: family id

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Population/convenience control

text: Neurologically normal caucasian control panel

text: ND02206 male unaffected Control panel for late onset parkinsons: unaffected individuals sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 41 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically normal mother of an affected child (GM22010);donor subject is heterozygous for a G216fs mutation in exon 8 of the PCCA gene

text: mother

text: PCCA

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: PCCA

text: Propionic acidemia

text: Propionyl-coa carboxylase alpha subunit

text: GM22011 female unaffected Propionic acidemia sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Dementia with lewy bodies

text: 75 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse is ND02212

text: proband

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

text: Male

text: Dementia with lewy bodies

text: ND02211 male affected Dementia with lewy bodies sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 43 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal father of an affected child (GM22010);donor subject is heterozygous for a G216fs mutation in exon 8 of the PCCA gene

characteristic: description

text: father

text: PCCA

text: Homo sapiens

text: Caucasian

text: Male

text: PCCA

characteristic: tag

text: Propionic acidemia

text: Propionyl-coa carboxylase alpha subunit

text: GM22012 male unaffected Propionic acidemia sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 74 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse of ND02211

text: spouse

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND02212 female unaffected Neurologically normal caucasian control panel sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Propionic acidemia

text: 30 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;diagnosed at 30 months of age;affected sibling died at age 26 years;gut motility normal;feeding by mouth 100%;grand mal seizures from age 2 1/2 to 5 years of age;walking;language is significantly below age level;cognitive ability is moderately impaired;IQ = 58;ketoacidosis from ages 2-8 years;on metabolic formula and levocarnitine

text: LITHUANIAN/GERMAN

characteristic: ethnicity

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Propionic acidemia

text: GM22013 female affected Propionic acidemia sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Parkinson disease

text: 63 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse is ND02214

text: proband

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: PD

text: Parkinson disease

text: ND02213 male affected Parkinson disease sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 56 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal mother of an affected child (GM22013)

characteristic: description

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Propionic acidemia

characteristic: tag

text: GM22014 female unaffected Propionic acidemia sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 58 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse of ND02213

text: spouse

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Neurologically normal caucasian control update of plate ndpt008

text: Population/convenience control

text: Ndpt079 neurologically normal caucasion control

text: ND02214 female unaffected Population/convenience control sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 56 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal father of an affected child (GM22013)

characteristic: family id

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Propionic acidemia

text: GM22015 male unaffected Propionic acidemia sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Parkinson disease

text: 55 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected son is ND02216;unaffected brother is ND2419;unaffected nephew is ND02420

text: proband

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

text: Female

text: Young onset parkinsons dna panel: affected individuals

text: PD

text: Parkinson disease

text: ND02215 female affected Parkinson disease sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 35 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically normal mother of an affected child (GM22208)

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Propionic acidemia

text: GM22016 female unaffected Propionic acidemia sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 35 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected son of ND02215;unaffected uncle is ND02419;unaffected cousin is ND02420

characteristic: description

text: son

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: ND02216 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 34 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal father of an affected child (GM22208)

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Propionic acidemia

text: GM22017 male unaffected Propionic acidemia sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: PD

text: 76 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected daughter is ND02218

characteristic: family id

text: proband

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinsons panel: caucasian from the united states

text: PD

text: Parkinson disease

text: ND02217 male affected PD sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Propionic acidemia

text: 9 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;diagnosed at 5 days of life;no family history;long QT diagnosed at age 6 years;slow gut motility;reflux only with acidosis;feeding by mouth 50% of the time;infrequent vomitting;seizures with initial crisis;ADD;acute anemia with severe illness;broken left ankle;infrequent ketoacidosis;on metabolic formula and levocarnitine;hemihypertrophy

text: GERMAN

characteristic: ethnicity

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Propionic acidemia

text: GM22018 female affected Propionic acidemia sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 40 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected daughter of ND02217

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: ND02218 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 41 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal mother of an affected child (GM22018)

characteristic: description

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Propionic acidemia

characteristic: tag

text: GM22019 female unaffected Propionic acidemia sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Parkinson disease

text: 72 YR

text: B-Lymphocyte

text: NINDS Repository

text: Affected sister of ND02226

text: TURKISH

characteristic: family id

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: PD

text: Parkinson disease

text: ND02227 female affected Parkinson disease sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 12 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal brother of an affected sibling (GM22025)

text: brother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Propionic acidemia

text: GM22020 male unaffected Propionic acidemia sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Parkinson disease

text: 57 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected daughter is ND02255;unaffected spouse is ND02256

text: proband

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: PD

text: Parkinson disease

text: Young onset parkinsons disease: affected individuals

text: ND02254 female affected Parkinson disease sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 41 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically normal mother of an affected child (GM22025)

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Propionic acidemia

text: GM22021 female unaffected Propionic acidemia sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 33 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected daughter of ND02254

characteristic: description

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: ND02255 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 42 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal father of an affected child (GM22025)

characteristic: family id

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Propionic acidemia

characteristic: tag

text: GM22022 male unaffected Propionic acidemia sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 66 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected son is ND02257

text: spouse

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Neurologically normal caucasian control update of plate ndpt008

text: Population/convenience control

text: Ndpt079 neurologically normal caucasion control

text: Neurologically normal caucasian control panel

text: ND02256 male unaffected Population/convenience control sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Propionic acidemia

text: 9 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;failure to thrive;normal gut motility;50% of feeding by mouth;G-tube;infrequent vomitting;seizures;began walking at 18 months of age and is still walking;language is significantly below age level;uses language assisting technology;talked at age two years;cognitive ability moderately impaired;infrequent episodes of ketoacidosis;on metabolic formula and levocarnitine;donor subject is a compound heterozygote: one allele has a G>A transition at nucleotide 335 in exon 3 of the PCCB gene (c.335G>A) resulting in the substitution of aspartic acid for glycine at codon 112 Gly112Asp (G112D) and the second allele has a 1 bp deletion at nucleotide 1204 in exon 12 (1204delG) resulting in a frameshift and stop codon at Ala402 (Ala402fs)

text: proband

text: PCCB

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Propionic acidemia

text: GM22025 male affected Propionic acidemia sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Corticobasal degeneration

text: 72 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene.Unaffected spouse is ND02258

characteristic: description

text: proband

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

text: Female

text: Corticobasal degeneration

text: ND02257 female affected Corticobasal degeneration sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: VCP

text: 62 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;myopathy with onset at 41 years of age;Paget disease with onset at age 40;winged scapulae;proximal muscle weakness;difficulty walking up stairs;radiographs showed coarse trabeculae of proximal femur with a long osteolytic lucency of the proximal shaft of the left femur and coarse trabecular and thickening of iliopectineal line of the ileum;serum creatine phosphokinase is 99 U/L;serum bone-specific alkaline phosphatase is 225 U/L;donor subject is heterozygous for a G>A transition at nucleotide 464 in exon 5 of the VCP gene (464G>A) resulting in the substitution of histidine for arginine at codon 155 Arg155His(R155H);see GM22029 Fibroblast

characteristic: family id

text: proband

text: VCP

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Inclusion body myopathy with early-onset paget disease and frontotemporal dementia

characteristic: tag

text: IBMPFD

text: VCP

text: Valosin-containing protein

text: GM22028 male affected VCP sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 68 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse of ND02257

text: spouse

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: ND02258 male unaffected Population/convenience control sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: VCP

text: 62 YR

characteristic: age

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;myopathy with onset at 41 years of age;Paget disease with onset at age 40;winged scapulae;proximal muscle weakness;difficulty walking up stairs;radiographs showed coarse trabeculae of proximal femur with a long osteolytic lucency of the proximal shaft of the left femur and coarse trabecular and thickening of iliopectineal line of the ileum;serum creatine phosphokinase is 99 U/L;serum bone-specific alkaline phosphatase is 225 U/L;donor subject is heterozygous for a G>A transition at nucleotide 464 in exon 5 of the VCP gene (464G>A) resulting in the substitution of histidine for arginine at codon 155 Arg155His(R155H);see GM22028 Lymphoid

text: proband

text: VCP

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: IBMPFD

text: VCP

text: Valosin-containing protein

text: GM22029 male affected VCP sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Progressive supranuclear palsy

text: 76 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected daughter is ND02262

text: proband

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Progressive supranuclear palsy

text: ND02261 female affected Progressive supranuclear palsy sample


characteristic: DNA id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Propionic acidemia

text: 5 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;diagnosed at age 1 week by newborn screening;failure to thrive;no family history;apnea;chronic long QT diagnosed at age 5 years;gut motility is slow;gastroesophageal reflux;50% fed by mouth;G-tube;vomiting once a month or more;acute neutropenia;acute anemia;immune deficiency;acute low platelets;asthma;broken bones: nondisplaced proximal right fibula and distal right radius;short stature;first walked at 18 months of age;language is slightly below age level;talked at 2 years of age;age appropriate cognitive ability;episodes of ketoacidosis once a month or more;on metabolic formula and levocarnitine;hypothyroid;esophagitis;fibroblast carboxylases results: propionyl-CoA carboxylase (PCC) 21 pmol/min/mg protein (normal range is 91-500);3-methylcrotonyl-CoA carboxylase (MCC) 136 pmol/min/mg protein (normal range is 31-220);and pyruvate carboxylase (PC) 305 pmol/min/mg protein (normal range is 71-370);donor subject is homozygous for a 2 bp deletion at nucleotide 1172 in exon 11 of the PCCB gene (c.1172_1173delTT)

characteristic: description

text: PCCB

text: Homo sapiens

text: Caucasian

text: Female

text: Propionic-coa carboxylase beta subunit

text: PCCB

text: Propionic acidemia

text: GM22030 female affected Propionic acidemia sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 53 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected daughter of ND02262

characteristic: family id

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

characteristic: tag

text: ND02262 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: VCP

text: 45 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;myopathy;serum creatine phosphokinase is 54 U/L;serum bone-specific alkaline phosphatase is 74 U/L;donor subject is heterozygous for a C>T transition at nucleotide 463 in exon 5 of the VCP gene (463C>T) resulting in the substitution of cysteine for arginine at codon 155 Arg155Cys(R155C);see GM22041 Fibroblast

text: cousin

text: VCP

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: IBMPFD

text: VCP

text: Valosin-containing protein

text: GM22040 female affected VCP sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 59 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected mother is ND02264;unaffected daughter is ND02265

text: proband

text: WILDTYPE for GLY2019

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Young onset parkinsons panel: caucasian subjects from north america

text: PD

text: Parkinson disease

text: ND02263 female affected Young onset parkinsons panel: affected individuals sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: VCP

text: 45 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;myopathy;serum creatine phosphokinase is 54 U/L;serum bone-specific alkaline phosphatase is 74 U/L;donor subject is heterozygous for a C>T transition at nucleotide 463 in exon 5 of the VCP gene (463C>T) resulting in the substitution of cysteine for arginine at codon 155 Arg155Cys(R155C);see GM22040 Lymphoid

text: cousin

text: VCP

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: IBMPFD

text: VCP

text: Valosin-containing protein

text: GM22041 female affected VCP sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 79 YR

text: B-Lymphocyte

text: NINDS Repository

text: Affected daughter is ND02263;unaffected granddaughter is ND02265

characteristic: description

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND02264 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Ataxia-telangiectasia

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;ataxia first observed at 19 months of age;telangiectasias in eyes observed at 20 months of age;elevated serum alpha fetoprotein (464ng/ml);normal levels of IgA;IgG and IgM;sores occasionally near eyes;family history of cancer: father's maternal line has colon cancer;subject has completed school through grade 12

text: ENGLISH/IRISH/AUSTRALIAN

characteristic: ethnicity

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: AT

characteristic: tag

text: Ataxia-telangiectasia

text: GM22062 male affected Ataxia-telangiectasia sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 24 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected daughter of ND02263;unaffected granddaughter of ND02264

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: ND02265 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: VCP

text: 56 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;myopathy with onset at 51 years of age;Paget disease with onset at age 35;proximal muscle weakness;difficulty walking up stairs;radiographs showed thickening and sclerosis with expansion of the femoral codyles with coarse trabeculae of the distal femur;serum creatine phosphokinase is 99 U/L;serum bone-specific alkaline phosphatase is 183 U/L;donor subject is heterozygous for a G>A transition at nucleotide 464 in exon 5 of the VCP gene (464G>A) resulting in the substitution of histidine for arginine at codon 155 Arg155His(R155H);see GM22079 Fibroblast

text: proband

text: VCP

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Inclusion body myopathy with early-onset paget disease and frontotemporal dementia

text: IBMPFD

text: VCP

text: Valosin-containing protein

text: GM22078 female affected VCP sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Subarachnoid hemorrhage

text: 61 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: sister

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Subarachnoid hemorrhage

text: Subarachnoid hemorrhage, caucasian from north america

text: ND02274 female affected Subarachnoid hemorrhage sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: VCP

text: 56 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;myopathy with onset at 51 years of age;Paget disease with onset at age 35;proximal muscle weakness;difficulty walking up stairs;radiographs showed thickening and sclerosis with expansion of the femoral codyles with coarse trabeculae of the distal femur;serum creatine phosphokinase is 99 U/L;serum bone-specific alkaline phosphatase is 183 U/L;donor subject is heterozygous for a G>A transition at nucleotide 464 in exon 5 of the VCP gene (464G>A) resulting in the substitution of histidine for arginine at codon 155 Arg155His(R155H);see GM22078 Lymphoid

characteristic: description

characteristic: family id

text: proband

text: VCP

text: Homo sapiens

text: Caucasian

text: Female

text: IBMPFD

text: VCP

text: Valosin-containing protein

text: GM22079 female affected VCP sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 64 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

characteristic: tag

text: ND02275 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: Propionic acidemia

text: 23 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;diagnosed at 2 weeks of age;failure to thrive;no family history;mild cardiomyopathy;normal gut motility;100% tube fed;infrequent vomiting;ADD/ADHD;acute neutropenia;hairline fracture of the right foot;walked at 18 months of age;language significantly below age level;talked at 2 years of age;cognitive ability severely impaired;IQ level at age 6 years;infrequent episodes of ketoacidosis;chronic hyperammonemia (<2 times normal);on metabolic formula and levocarnitine

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Propionic acidemia

text: GM22080 male affected Propionic acidemia sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Intracranial aneurysm - unruptured

text: 51 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm unruptured: caucasian

text: Intracranial aneurysm - unruptured

text: ND02276 female affected Intracranial aneurysm - unruptured sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 56 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal mother of an affected child (GM22080)

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Propionic acidemia

text: GM22081 female unaffected Propionic acidemia sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: 67 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: ND02282 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 56 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal father of an affected child (GM22080)

characteristic: description

characteristic: family id

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Propionic acidemia

text: GM22082 male unaffected Propionic acidemia sample


text: Coriell

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 85 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: maternal aunt

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Subarachnoid hemorrhage

characteristic: tag

text: ND02283 female affected Subarachnoid hemorrhage sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Propionic acidemia

text: 4 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;diagnosed at 3 weeks of age;failure to thrive;no family history as far as the adoptive parents know;acute pancreatitis;port-a-cath currently in place;normal gut motility;gastroesophageal reflux;eating by mouth less than 50% of the time;gastric tube;vomiting once a week or more;MRI shows basal ganglia damage;autism spectrum disorder;acute neutropenia;walked at 16 months of age;language is significantly below age level;talked at 20-21 months of age;cognitive ability moderately impaired;infrequent episodes of ketoacidosis;on metabolic formula and levocarnitine

text: Homo sapiens

text: Caucasian

text: Male

text: Propionic acidemia

text: GM22083 male affected Propionic acidemia sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 58 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: ND02284 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: 36 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically normal father of two affected children (GM22112 and GM22113)

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Propionic acidemia

text: GM22110 male unaffected Propionic acidemia sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 58 YR

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: ND02285 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 38 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal mother of two affected children (GM22112 and GM22113)

characteristic: description

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Propionic acidemia

text: GM22111 female unaffected Propionic acidemia sample


text: Coriell

text: live

text: Generic

text: Epilepsy

text: 50 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother is ND02291

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Epilepsy

text: Epilepsy, focal: caucasian

text: ND02290 male affected Epilepsy sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Propionic acidemia

text: 12 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;newborn screened and diagnosed at 1 week of age;failure to thrive;affected sister is GM22113;tachypnea;slow gut motility;g-tube;infrequent vomiting;seizures;acute anemia;walked at 18 months of age;talked at age 2 years;cognitive ability is moderately impaired;episodes of ketoacidosis once a month or more;chronic hyperammonemia;on metabolic formula and levocarnitine;donor subject is homozygous for a 14 bp deletion and a 12 bp insertion at nucleotide 1218 in exon 12 of the PCCB gene c.1218_1231delinsTAGAGCACAGGA (c.1218del14ins12) resulting in a frameshift and stop codon at Gly406 (Gly406fs)

text: proband

text: PCCB

characteristic: gene

text: 14-BP DEL

characteristic: mutation

text: 12-BP INS

text: Homo sapiens

text: Caucasian

text: Female

text: Propionic acidemia

characteristic: tag

text: GM22112 female affected Propionic acidemia sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: 79 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected mother of ND02290

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND02291 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

text: Propionic acidemia

text: 7 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;newborn screened and diagnosed at 1 day of age;failure to thrive;affected sister is GM22112;tachypnea;slow gut motility;g-tube;infrequent vomiting;grand mal seizures;acute anemia;immune deficiency;asthma;short stature;broken left arm/elbow;walked at 2 years of age;talked at age 18 months;cognitive ability is moderately impaired;episodes of ketoacidosis once a month or more;chronic hyperammonemia;on metabolic formula and levocarnitine;donor subject is homozygous for a 14 bp deletion and a 12 bp insertion at nucleotide 1218 in exon 12 of the PCCB gene c.1218_1231delinsTAGAGCACAGGA (c.1218del14ins12) resulting in a frameshift and stop codon at Gly406 (Gly406fs)

text: sister

text: PCCB

text: 14-BP DEL

text: 12-BP INS

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Propionic acidemia

text: GM22113 female affected Propionic acidemia sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Epilepsy

text: 16 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother is ND02293;unaffected sister is ND02294

characteristic: description

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy generalized: caucasian

text: Epilepsy

text: ND02292 male affected Epilepsy sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Propionic acidemia

text: 10 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;affected sister is GM22124;presented at 5 months of age with acute decompensation;lethargy;metabolic acidosis;hyperammonemia;pancytopenia;high glycine and propionic acid in urine;cardiomyopathy;gut motility is normal;1-50% eating by mouth;g-tube;infrequent vomiting;short stature;growth hormone treatment;walked at age 3 years;language significantly below age level;first talked at age 3 years;cognitive ability mildly impaired;episodes of ketoacidosis;on metabolic formula and levocarnitine;donor subject is a compound heterozygote: one allele has a C>T transition at nucleotide 377 in exon 3 of the PCCB gene (c.377C>T) resulting in a stop at codon 113 Arg113Ter (R113X) and the second allele has a T>C transition at nucleotide 1172 in exon 11 (c.1172T>C) resulting in the substitution of serine for phenylalanine at codon 391 Phe391ser (F391S)

text: proband

text: PCCB

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Filipino

text: Female

characteristic: sex

text: Propionic-coa carboxylase beta subunit

text: PCCB

text: Propionic acidemia

text: GM22123 female affected Propionic acidemia sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: 50 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Mother of an affected son (ND02292) and an unaffected daughter (ND02294)

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND02293 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

text: Propionic acidemia

text: 8 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;affected sister is GM22123;moderate cardiomyopathy;normal gut motility;no eating by mouth;g-tube;vomiting once a month or more;short stature;walked at age 18 months;language significantly below age level;first talked at age 4 years;cognitive ability moderately impaired;episodes of ketoacidosis;on metabolic formula and levocarnitine

text: sister

text: Homo sapiens

text: Filipino

text: Female

text: Propionic acidemia

text: GM22124 female affected Propionic acidemia sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 19 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected sister of ND02292;unaffected daughter of ND02293

text: sister

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: ND02294 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 32 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal father of two affected children (GM22123 and GM22124)

characteristic: description

characteristic: family id

text: father

text: Homo sapiens

text: Filipino

text: Male

text: Propionic acidemia

text: GM22125 male unaffected Propionic acidemia sample