GM26234
LCL from B-Lymphocyte
Description:
NEMALINE MYOPATHY 3; NEM3
ACTIN, ALPHA-1, SKELETAL MUSCLE; ACTA1
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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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Country of Origin
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USA
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Family Member
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1
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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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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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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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| Gene |
ACTA1 |
| Chromosomal Location |
1q42.13 |
| Allelic Variant 1 |
p.F3541; |
| Identified Mutation |
c.1060T>A |
| Remarks |
Clinically affected; gracile long bones and dysmorphic features; hypotonia; multiple contractures; absent reflexes; individual cannot hold head up without assistance, cannot sit without assistance, cannot walk without assistance, or run; WES genetic test results found a heterozygous c.1060T>A (p.F3541) likely pathogenic variant in the ACTA1 gene; exome sequencing analysis of this region in parental samples did not detect c.1060T>A (p.F3541) change, suggesting that the change arose de novo in the patient; low level mosaicism in either parent cannot be excluded. |
| Split Ratio |
1:4 |
| 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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