Description:
EPIDERMOLYSIS BULLOSA, JUNCTIONAL 3B, SEVERE; JEB3B
APPARENTLY HEALTHY INDIVIDUAL
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 |
|
Cell Type
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Fibroblast
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|
Transformant
|
Untransformed
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|
Race
|
White
|
|
Family Member
|
2
|
|
Relation to Proband
|
father
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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 |
2 |
| |
| 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 |
Clinically unaffected; 1 affected son with probable junctional EB |
| Passage Frozen |
2 |
| Split Ratio |
1:3 |
| 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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