Description:
EPIDERMOLYSIS BULLOSA, JUNCTIONAL 3B, SEVERE; JEB3B
LAMININ, GAMMA-2; LAMC2
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Connective Tissue, Muscle, and Bone |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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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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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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| Passage Frozen |
1 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Gene |
LAMC2 |
| Chromosomal Location |
1q25.3 |
| Allelic Variant 1 |
; EPIDERMOLYSIS BULLOSA, JUNCTIONAL 3B, HERLITZ TYPE |
| Identified Mutation |
2336del20/insG |
| Remarks |
Blisters on neck & back at age 2 days; extreme skin fragility; chronic skin erosions; loss of fingernails & toenails; epidermal autografts; negative family history; probably junctional Gravis-Herlitz type. One allele has a heterozygous mutation 2336del20/insG in LAMC2 gene. Mutation on the other allele is unknown. |
| Pulkkinen L, Christiano AM, Airenne T, Haakana H, Tryggvason K, Uitto J, Mutations in the gamma 2 chain gene (LAMC2) of kalinin/laminin 5 in the junctional forms of epidermolysis bullosa Nature genetics6:293-7 1994 |
| PubMed ID: 8012393 |
| Passage Frozen |
1 |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| 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 |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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