GM26099
LCL from B-Lymphocyte
Description:
MYOPATHY, MYOFIBRILLAR, 13, WITH RIMMED VACUOLES; MFM13
RIMMED VACUOLAR MYOPATHY
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
PIGI Consented Sample |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
LCL from B-Lymphocyte
|
|
Race
|
White
|
|
Ethnicity
|
Not Hispanic/Latino
|
|
Country of Origin
|
USA
|
|
Family Member
|
3
|
|
Family History
|
Y
|
|
Relation to Proband
|
brother
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Gene |
HSPB8 |
| Chromosomal Location |
12q24.23 |
| Allelic Variant 1 |
p.P173Sfs*43; MYOPATHY, MYOFIBRILLAR, 13, WITH RIMMED VACUOLES; MFM13 |
| Identified Mutation |
c.515dupC (p.P173Sfs*43) |
| Remarks |
Unaffected brother; whole exome sequencing revealed an insertion in an intron with a region of sequence variant identity on chromosome 9 between 35,060,302 and 35,066,579 (region includes VCP gene); co-segregation analysis results and confirmation by automated Sanger sequencing revealed a heterozygous mutation in the HSPB8 gene: c.515dupC (p.P173Sfs*43) in exon CDS 3; translational frameshift results in elongated protein; positive family history: this mutation is also present in the affected proband brother (GM26095-lymph, GM26096-fibro) and affected mother (GM26097-lymph, GM26098-fibro); at-risk maternal aunt (GM26100-lymph); affected maternal uncle (GM26579-fibro); fibro (GM28283); pedigree and family history in PMID 31403083. |
| Al-Tahan S, Weiss L, Yu H, Tang S, Saporta M, Vihola A, Mozaffar T, Udd B, Kimonis V, New family with HSPB 8-associated autosomal dominant rimmed vacuolar myopathy Neurology Genetics5:e349 2018 |
| PubMed ID: 31403083 |
| Split Ratio |
1:3 |
| 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 |
- |
|