GM20947
Fibroblast from Skin, Unspecified
Description:
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id
ALG3, S. CEREVISIAE, HOMOLOG OF; ALG3
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable 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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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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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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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
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| Gene |
ALG3 |
| Chromosomal Location |
3q27 |
| Allelic Variant 1 |
W71R; CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id |
| Identified Mutation |
TRP71ARG |
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| Gene |
ALG3 |
| Chromosomal Location |
3q27 |
| Allelic Variant 2 |
M157K; CONGENITAL DISORDER OF GLUCOSYLATION, TYPE Id |
| Identified Mutation |
MET157LYS |
| Remarks |
Clinically affected; donor subject is a compound heterozygote: one allele has a substitution of arginine for tryptophan at codon 71 of the ALG3 gene [Trp71Arg (W71R)] and a second allele has a substitution of lysine for methionone at codon 157 of the ALG3 gene [Met157Lys (M157K)].
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| Split Ratio |
1:2 |
| Temperature |
37 C |
| Percent CO2 |
10% |
| Medium |
Dulbecco Modified Eagles Medium (high glucose) with 2mM L-glutamine or equivalent |
| Serum |
10% fetal bovine serum Not inactivated |
| Supplement |
- |
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