GM23286
LCL from B-Lymphocyte
Description:
INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Heritable Diseases |
Biopsy Source
|
Peripheral vein
|
Cell Type
|
B-Lymphocyte
|
Tissue Type
|
Blood
|
Transformant
|
Epstein-Barr Virus
|
Sample Source
|
LCL from B-Lymphocyte
|
Race
|
White
|
Family Member
|
6
|
Family History
|
Y
|
Relation to Proband
|
cousin
|
Confirmation
|
Clinical summary/Case history
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
|
Gene |
VCP |
Chromosomal Location |
9p13-p12 |
Allelic Variant 1 |
601023.0001; INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA |
Identified Mutation |
ARG155HIS; In 7 of 13 families with autosomal dominant IBMPFD (167320), Watts et al. (Nature Genet 36:377-381, 2004) identified a G-to-A transition at nucleotide 464 of the VCP gene, resulting in an arg155-to-his substitution (R155H). This mutation appears to have arisen independently on several haplotype backgrounds.
|
Remarks |
Clinically affected; myopathy symptom onset at age 45 year; frontotemporal dementia; proximal muscle weakness; shoulder weakness/atrophy; limb weakness/atrophy; gait abnormalities; difficulty walking up stairs; serum bone-specific alkaline phosphatase 115 U/L; serum creatine phosphokinase 101 U/L; PCR and capillary electrophoresis (CE) results indicate that the donor subject has 0 copies of the SMN1 gene and 2 copies of the SMN 2 gene; VCP mutation: R155H; affected 1st cousins include GM21827 (fibro), GM21829 (fibro), GM21852 (lymph), and GM21853 (fibro); affected 2nd cousins include GM21828 (lymph), GM21830 (fibro), GM21850 (lymph), and GM21851 (fibro); unaffected 2nd cousin is GM21726 (lymph) and GM21727 (fibro). |
Split Ratio |
1:5 |
Temperature |
37 C |
Percent CO2 |
5% |
Percent O2 |
AMBIENT |
Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
Serum |
15% fetal bovine serum Not Inactivated |
Substrate |
None specified |
Subcultivation Method |
dilution - add fresh medium |
Supplement |
- |
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