NA20945
DNA from Fibroblast
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 |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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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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DNA from Fibroblast
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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 |
601785.0016; CONGENITAL DISORDER OF GYLCOSYLATION, TYPE Ia |
| Identified Mutation |
LEU32ARG; In a French patient with CDG Ia (212065), Vuillaumier-Barrot et al. (J Med Genet 37:579-580, 2000) identified a TA-to-GC substitution at nucleotide 95 in exon 2 of the PMM2 gene, resulting in a leu32-to-arg mutation.
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| Gene |
PMM2 |
| Chromosomal Location |
16p13.3-p13.2 |
| Allelic Variant 2 |
F157S; CONGENITAL DISORDER OF GYLCOSYLATION, TYPE Ia |
| Identified Mutation |
PHE157SER |
| Remarks |
Clinically affected; abnormal isoelectric focusing pattern of serum transferrin; mild phenotype; donor subject is a compound heterozygote: one allele has two nucleotides mutated in exon 2 of the PMM2 gene [95TA>GC] resulting in a substitution of arginine for leucine at codon 32 [Leu32Arg (L32R)] and a second allele has a T>C transition at nucleotide 470 in exon 6 of the PMM2 gene [470T>C] resulting in a substitution of serine for phenylalanine at codon 157 [Phe157Ser (F157S)].
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| Matthijs G, Schollen E, Bjursell C, Erlandson A, Freeze H, Imtiaz F, Kjaergaard S, Martinsson T, Schwartz M, Seta N, Vuillaumier-Barrot S, Westphal V, Winchester B, Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia) Human mutation16:386-94 2000 |
| PubMed ID: 11058895 |
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