NA20956
DNA from Fibroblast
Description:
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia
PHOSPHOMANNOMUTASE 2; PMM2
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
|
Biopsy Source
|
Unspecified
|
|
Cell Type
|
Fibroblast
|
|
Tissue Type
|
Skin
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
DNA from Fibroblast
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Molecular characterization before cell line submission to CCR
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
| |
| 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.
|
| |
| 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)].
|
|
|