GM26162
LCL from B-Lymphocyte
Description:
CENTRAL CORE DISEASE OF MUSCLE
RYANODINE RECEPTOR 1; RYR1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Muscular Dystrophies
CMD Specific
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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Subject Type
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parents only - affected child not in Repository
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Country of Origin
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USA
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Family History
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Y
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Relation to Proband
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mother
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Confirmation
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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
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Human
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Remarks
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| Passage Frozen |
2 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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| Gene |
RYR1 |
| Chromosomal Location |
19q13.2 |
| Allelic Variant 1 |
Leu574Val; Congenital myopathy 1A, autosomal dominant, with susceptibility to malignant hyperthermia; CMYO1A
Alternative title: CENTRAL CORE DISEASE OF MUSCLE; CCD |
| Identified Mutation |
c.1720C>G (p.Leu574Val) |
| Remarks |
Mildly affected, minimal proximal weakness but ultrasound findings compatible with RYR1-associated myopathy (i.e., myopathic changes in the quadriceps with relative sparing of the rectus femoris). Heterozygous in exon 16 of the RYR1 gene for a variant of uncertain significance defined as c.1720C>G, which is predicted to result in the amino acid substitution p.Leu574Val; Daughter is more severely affected with same variant of unknown significance and a pathogenic c.2038delC mutation that is heterozygous in exon 18 of the RYR1 gene, and results in a frameshift and premature protein termination at (p.His680ThrfsStop50). |
| Bharucha-Goebel DX, Santi M, Medne L, Zukosky K, Dastgir J, Shieh PB, Winder T, Tennekoon G, Finkel RS, Dowling JJ, Monnier N, Bönnemann CG, Severe congenital RYR1-associated myopathy: the expanding clinicopathologic and genetic spectrum Neurology80:1584-9 2013 |
| PubMed ID: 23553484 |
| Passage Frozen |
2 |
| 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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