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 |
| Protocols |
Protocol PDF |
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Biopsy Source
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Blood
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Cell Type
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Stem cell
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Cell Subtype
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Induced pluripotent stem cell
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Transformant
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Reprogrammed (Sendai)
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Sample Source
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iPSC from Blood
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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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ISCN
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46,XX,inv(9)(p11q13)[20]
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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 |
12 |
| |
| Induced Pluripotent Stem Cell |
The parental cell line was recovered reprogrammed to an induced pluripotent stem cell line and expanded. The expanded line was evaluated for viability surface antigen expression and alkaline phosphatase activity. Pluripotency was assessed via embryoid body (EB) formation. Steady-state mRNA expression patterns of undifferentiated iPSC and EBs were determined via real-time PCR. Characterization data are included in the Certificate of Analysis. |
| |
| 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). Researchers purchasing hiPSCs from the NIGMS Repository are responsible for any limited use label licenses (LULLs) applicable to the cell line purchased. The applicable LULL to this line is Sendai-CytoTune. |
| 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 |
| Passage Frozen |
12 |
| Split Ratio |
1:8 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
mTeSR1 |
| Serum |
none |
| Substrate |
Matrigel |
| Supplement |
- |
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