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
PIGI Consented Sample |
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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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Race
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Other
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Ethnicity
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Not Hispanic/Latino
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Ethnicity
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Armenian
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Country of Origin
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USA
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Family Member
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2
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Family History
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N
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Relation to Proband
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father
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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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| PDL at Freeze |
7.95 |
| Passage Frozen |
3 |
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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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| Remarks |
Unaffected father of proband (GM27226); Diagnosed with papillary thyroid carcinoma at age 27; History of Hashimoto's thyroiditis; Carrier of PMM2 c.422G>A (p.R141H) variant inherited by proband (GM27226). |
| Cumulative PDL at Freeze |
7.95 |
| Passage Frozen |
3 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| 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 |
| Supplement |
- |
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