GM20956
Fibroblast from Skin, Unspecified
Description:
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia
PHOSPHOMANNOMUTASE 2; PMM2
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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 |
PMM2 |
| Chromosomal Location |
16p13.3-p13.2 |
| Allelic Variant 1 |
601785.0001; CONGENITAL DISORDER OF GYLCOSYLATION, TYPE Ia |
| Identified Mutation |
ARG141HIS; In a family in Sicily in which linkage studies indicated mapping of CDG1 to 16p13, Matthijs et al. (Nature Genet 16:88-92, 1997) found that affected individuals were compound heterozygotes for a 425G-A transition (R141H) and a 647A-T transversion (N216I; 601785.0002) in the PMM2 gene.
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| Gene |
PMM2 |
| Chromosomal Location |
16p13.3-p13.2 |
| Allelic Variant 2 |
P113T; CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia |
| Identified Mutation |
PRO113THR |
| Remarks |
Clinically affected; abnormal isoelectric focusing of transferrin; donor subject is a compound heterozygote: one allele has a G>A transition at nucleotide 422 in exon 5 of the PMM2 gene [422G>A] resulting in a substitution of histidine for arginine at codon 141 [Arg141His (R141H)] and a second allele has a substitution of threonine for proline at codon 113 [Pro113Thr (P113T)].
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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 |
| Substrate |
None specified |
| Supplement |
- |
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