GM24230
Fibroblast from Skin, Skin
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 |
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Biopsy Source
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Skin
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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Transformant
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Untransformed
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Sample Source
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Fibroblast from Skin, Skin
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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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Clinical summary/Case history
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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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| PDL at Freeze |
2.7 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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| Gene |
LAMA2 |
| Chromosomal Location |
6q22-q23 |
| Allelic Variant 1 |
Leu12Arg; MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT |
| Identified Mutation |
35T>G |
| |
| Gene |
LAMA2 |
| Chromosomal Location |
6q22-q23 |
| Allelic Variant 2 |
; MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A |
| Identified Mutation |
7297C>T |
| Remarks |
Clinically affected; symptom onset before age 2; maximum motor function ever achieved and still maintained: sitting when placed; respiratory support used at nightime; LAMA2 mutations: c.35T>G(p.Leu12 Arg) & c.7297C>T (p.GLN2433STOP); same as GM24249 (LCL). |
| Cumulative PDL at Freeze |
6.07 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Supplement |
- |
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