GM23824
Fibroblast from Skin, Unspecified
Description:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2; MDDGA2
PROTEIN O-MANNOSYLTRANSFERASE 2; POMT2
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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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Unspecified
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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, Unspecified
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Race
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Not Reported
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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[18]
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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 |
1.63 |
| Passage Frozen |
2 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Gene |
POMT2 |
| Chromosomal Location |
14q24.3 |
| Allelic Variant 1 |
Phe221Ile; |
| Identified Mutation |
Phe221Ile |
| Remarks |
Clinically affected; homozygous POMT2 mutation: c.6617T>A, p.Phe221Ile in exon 6. |
| Cumulative PDL at Freeze |
4.44 |
| Passage Frozen |
2 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
3% |
| 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 |
| Supplement |
- |
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