GM26147
LCL from B-Lymphocyte
Description:
MYOPATHY, CONGENITAL; TYPE UNKNOWN
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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Ethnicity
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Not Hispanic/Latino
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Ethnicity
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Polish, English
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Country of Origin
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USA
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Family History
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N
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Relation to Proband
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proband
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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 |
RYR1 |
| Chromosomal Location |
19q13.2 |
| Allelic Variant 1 |
p.Q1589P; CENTRAL CORE DISEASE |
| Identified Mutation |
p.Q1589P |
| |
| Gene |
FLNA |
| Chromosomal Location |
Xq28 |
| Allelic Variant 1 |
p.P680L; CARDIAC VALVULAR DYSPLASIA, X-LINKED; CVD1 |
| Identified Mutation |
c.2039C>T |
| |
| Gene |
MYH7 |
| Chromosomal Location |
14q11.2 |
| Allelic Variant 1 |
p.V1360I; CARDIOMYOPATHY, DILATED, 1S; CMD1S |
| Identified Mutation |
V1360I |
| Remarks |
Unaffected carrier; asymptomatic; Sanger sequencing of the RYR1 gene revealed a heterozygous c.4766A>C (p.Q1589P) variant of unknown clinical significance; same variant also present in child (not in repository); the subject is also heterozygous for the following variants of unknown clinical significance in disease genes related to the clinical phenotype: c.4078G>A (p.V1360I) in the MYH7 gene, and c.2039C>T (p.P680L) in the FLNA gene on the X chromosome. |
| Split Ratio |
1:2 |
| 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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