GM23717
iPSC from Fibroblast
Description:
MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A; MDC1A
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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 |
| Class |
Congenital Muscle Diseases |
| Protocols |
Protocol PDF |
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Biopsy Source
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Skin
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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 (Episomal)
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Sample Source
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iPSC from Fibroblast
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Race
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White
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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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ISCN
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46,XX
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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 |
19 |
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| Induced Pluripotent Stem Cell |
The cell line submitted to the Repository frozen was recovered and expanded. The expanded line was evaluated for viability surface antigen expression and alkaline phosphatase activity. Pluripotency was assessed via embryoid body (EB) formation and directed differentiation toward cardiac neuronal and pancreatic lineages. Steady-state mRNA expression patterns of undifferentiated iPSC EB and differentiated iPSC were determined via real-time PCR. The line was evaluated for in vivo pluripotency via teratoma formation assay. Characterization data are included in the Certificate of Analysis. |
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| Gene |
LAMA2 |
| Chromosomal Location |
6q22-q23 |
| Allelic Variant 1 |
; MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A |
| Identified Mutation |
2049_2050delAG |
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| Gene |
LAMA2 |
| Chromosomal Location |
6q22-q23 |
| Allelic Variant 2 |
156225.0008; MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A |
| Identified Mutation |
ARG2578TER |
| Remarks |
Induced pluripotent stem cell line derived from GM23311;
Clinically affected; symptom onset before 2 years of age; elevated creatine kinase (200-2,000 IU/L); diagnosis confirmed by muscle imaging and biopsy; abnormal white matter in brain by MRI/CT scan; head held up without assistance; turned in bed by age three years; no other milestones have been achieved; night time respiratory support; donor subject is a compound heterozygote: maternal allele has a 2 bp deletion in exon 14 of the LAMA2 gene (2049_2050delAG); the paternal allele has a C>T transition at nucleotide 7732 in exon 55 (7732C>T) resulting in a premature stop at codon 2578 [Arg2578Ter (R2578X)]. 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 WARF. |
| Passage Frozen |
19 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Ham's F12 Medium/Dulbecco Modified Eagles Medium, 1:1 mixture with 2mM L-glutamine or equivalent |
| Serum |
20% fetal bovine serum Not inactivated |
| Substrate |
Gelatin + Feeder Layer |
| Supplement |
Basic Fibroblast Growth Factor 100ng/ml |
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