GM26099
LCL from B-Lymphocyte
Description:
INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD
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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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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LCL from B-Lymphocyte
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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
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3
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Family History
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Y
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Relation to Proband
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brother
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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| Gene |
HSPB8 |
| Chromosomal Location |
12q24.23 |
| Allelic Variant 1 |
p.P173Sfs*43; INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD |
| 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 |
- |
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