GM26112
LCL from B-Lymphocyte
Description:
MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD
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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Ethnicity
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Italian/Irish
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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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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 |
; |
| Identified Mutation |
GLY48CYS |
| Remarks |
Clinically affected; onset of symptoms at birth; diagnosed at 12 weeks of age by geneticist; neonatal hypotonia; low muscle tone; whole exome sequencing revealed the donor is heterozygous for a pathogenic de novo c.142C>A (p.Gly48Cys) mutation in the ACTA1 gene (human genome build GRCh37/UCSC hg19). |
| Gene Cards |
ACTA1 |
| Gene Ontology |
GO:0003774 motor activity |
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GO:0005200 structural constituent of cytoskeleton |
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GO:0005884 actin filament |
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GO:0006936 muscle contraction |
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GO:0007517 muscle development |
| NCBI Gene |
Gene ID:4349 |
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Gene ID:4754 |
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Gene ID:58 |
| NCBI GTR |
102610 ACTIN, ALPHA, SKELETAL MUSCLE 1; ACTA1 |
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161800 NEMALINE MYOPATHY 3; NEM3 |
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255310 MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD |
| OMIM |
102610 ACTIN, ALPHA, SKELETAL MUSCLE 1; ACTA1 |
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161800 NEMALINE MYOPATHY 3; NEM3 |
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255310 MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD |
| Omim Description |
FIBER-TYPE DISPROPORTION MYOPATHY, CONGENITAL; CFTDM |
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MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION |
| 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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