GM20958
Fibroblast from Skin, Unspecified
Description:
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If
MANNOSE-P-DOLICHOL UTILIZATION DEFECT 1; MPDU1
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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 |
MPDU1 |
| Chromosomal Location |
17p13.1-p12 |
| Allelic Variant 1 |
604041.0002; CONGENITAL DISORDER OF GYLCOSYLATION, TYPE If |
| Identified Mutation |
LEU119PRO; In a patient with congenital disorder of glycosylation type If (609180), Schenk et al. (J Clin Invest 108:1687-1695, 2001) identified a homozygous 356T-C transition in the MPDU1 gene, resulting in a leu119-to-pro (L119P) substitution.
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| Gene |
MPDU1 |
| Chromosomal Location |
17p13.1-p12 |
| Allelic Variant 2 |
604041.0002; CONGENITAL DISORDER OF GYLCOSYLATION, TYPE If |
| Identified Mutation |
LEU119PRO; In a patient with congenital disorder of glycosylation type If (609180), Schenk et al. (J Clin Invest 108:1687-1695, 2001) identified a homozygous 356T-C transition in the MPDU1 gene, resulting in a leu119-to-pro (L119P) substitution.
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| Remarks |
Clinically affected; born at 40 weeks gestation; birth weight = 3,200 g; severe psychomotor retardation (at age 10 years, developmental age is 2.5 years); no growth or skin problems other than transient eczema; hypotonia; developed generalized seizures at 15 months of age; abnormal isoelectric focusing of transferrin showing hypoglycosylation of the protein; normal serum transaminases; generalized dysrhythmia on EEG; head MRI showed normal myelination and enlarged frontal spaces; fibroblasts accumulated incomplete LLO precursors for N-linked protein glycosylation; normal phosphomannomutase and phosphomannose isomerase activity; transfer of incomplete oligosaccharides to protein; donor subject is homozygous for a T>C transition at nucleotide 356 of the MPDU1 gene [356T>C] resulting in a substitution of proline for leucine at codon 119 [Leu119Pro (L119P)].
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| Koblan LW1,2,3, Doman JL1,2,3, Wilson C1,2,3, Levy JM1,2,3, Tay T1,2,3, Newby GA1,2,3, Maianti JP1,2,3, Raguram A1,2,3, Liu DR, Improving cytidine and adenine base editors by expression optimization and ancestral reconstruction Nature Biotechnology: 2018 |
| PubMed ID: 29813047 |
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| Schenk B, Imbach T, Frank CG, Grubenmann CE, Raymond GV, Hurvitz H, Korn-Lubetzki I, Revel-Vik S, Raas-Rotschild A, Luder AS, Jaeken J, Berger EG, Matthijs G, Hennet T, Aebi M, MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If The Journal of clinical investigation108:1687-95 2001 |
| PubMed ID: 11733564 |
| Split Ratio |
1:4 |
| 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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