Description:
MYOPATHY, MYOFIBRILLAR, 13, WITH RIMMED VACUOLES; MFM13
HEAT-SHOCK 22-KD PROTEIN 8; HSPB8
RIMMED VACUOLAR MYOPATHY
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
PIGI Consented Sample |
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Cell Type
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Fibroblast
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|
Tissue Type
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Skin
|
|
Transformant
|
Untransformed
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|
Race
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White
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|
Ethnicity
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Not Hispanic/Latino
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Country of Origin
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USA
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Family Member
|
3
|
|
Family History
|
Y
|
|
Relation to Proband
|
brother
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|
Confirmation
|
Molecular characterization before cell line submission to CCR
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|
Species
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Homo sapiens
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|
Common Name
|
Human
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|
Remarks
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|
| PDL at Freeze |
8.77 |
| Passage Frozen |
3 |
| |
| 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; positive family history; affected mother (GM26097-lymph, GM26098-fibro); affected brother (GM26095-lymph, GM26096-fibro); at-risk maternal aunt (GM26100-lymph); affected maternal uncle (GM26579-fibro); LCL(GM26099) |
| 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 |
| Cumulative PDL at Freeze |
8.77 |
| Passage Frozen |
3 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
3% |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Supplement |
- |
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