GM09545
LCL from B-Lymphocyte
Description:
PELIZAEUS-MERZBACHER DISEASE; PMD
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of the Nervous System |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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LCL from B-Lymphocyte
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Race
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White
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Ethnicity
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ITALIAN
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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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 Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR analysis of DNA from this cell culture gave a positive result with a primer for Yq11, DYS227. |
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| MYELIN PROTEINS AND METABOLISM |
Gencic et al (Am J Hum Genet 45:435-442,1989) reported that DNA from this cell culture showed a single base transition (C to T) in exon 5 of the myelin proteolipid protein gene which causes a serine substitution for proline at the carboxy end of the protein. |
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| Gene |
PLP1 |
| Chromosomal Location |
Xq22 |
| Allelic Variant 1 |
300401.0001; PELIZAEUS-MERZBACHER DISEASE |
| Identified Mutation |
PRO215SER; Gencic et al. [Am. J. Hum. Genet. 45: 435 (1989)] described a missense mutation in exon 5 of the PLP gene, with a C-to-T transition creating a serine substitution for proline at the carboxy end of the protein, in a patient with the classic form (type I) of PMD. |
| Remarks |
Spastic quadreplegia; an affected brother died at age 10; see GM09546 Fibroblast; donor subject has a C>T transition at nucleotide 767 (767C>T) in exon 5 of the PLP1 gene resulting in a missense mutation, a substitution of serine for proline at codon 215 [Pro215Ser (P215S)] |
| Wood PL, Smith T, Pelzer L, Goodenowe DB, Targeted metabolomic analyses of cellular models of pelizaeus-merzbacher disease reveal plasmalogen and myo-inositol solute carrier dysfunction Lipids in health and disease10:102 2011 |
| PubMed ID: 21682894 |
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| Gencic S, Abuelo D, Ambler M, Hudson LD, Pelizaeus-Merzbacher disease: an X-linked neurologic disorder of myelin metabolism with a novel mutation in the gene encoding proteolipid protein. Am J Hum Genet45:435-42 1989 |
| PubMed ID: 2773936 |
| Split Ratio |
1:2 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
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