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NA13434 DNA from LCL

Description:

PELIZAEUS-MERZBACHER DISEASE; PMD
PROTEOLIPID PROTEIN 1; PLP1

Affected:

Yes

Sex:

Male

Age:

No Data

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links
  • Images

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
dbGaP
Class Disorders of the Nervous System
Quantity 25 µg
Quantitation Method Please see our FAQ
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source DNA from LCL
Relation to Proband proband
Confirmation Molecular characterization before cell line submission to CCR
ISCN arr(1-22)x2,(XY)x1
Species Homo sapiens
Common Name Human
Remarks Clinically affected; brother and maternal uncle also affected; donor subject is hemizygous for a deletion of parts of exon 3 and exon 4 and the intervening sequence in the PLP1 gene.

Characterizations

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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
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis
 
Gene PLP1
Chromosomal Location Xq22
Allelic Variant 1 ; PELIZAEUS-MERZBACHER DISEASE
Identified Mutation PARTIAL DEL EX 3 AND 4
 
Gene PLP1
Chromosomal Location Xq22
Allelic Variant 1 ; PELIZAEUS-MERZBACHER DISEASE
Identified Mutation PARTIAL DEL EX 3 AND 4

Phenotypic Data

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Remarks Clinically affected; brother and maternal uncle also affected; donor subject is hemizygous for a deletion of parts of exon 3 and exon 4 and the intervening sequence in the PLP1 gene.

Publications

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Tang Z, Berlin DS, Toji L, Toruner GA, Beiswanger C, Kulkarni S, Martin CL, Emanuel BS, Christman M, Gerry NP, A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds G3 (Bethesda, Md)3:1143-9 2013
PubMed ID: 23665875
 
Warshawsky I, Chernova OB, Hübner CA, Stindl R, Henneke M, Gal A, Natowicz MR, Multiplex ligation-dependent probe amplification for rapid detection of proteolipid protein 1 gene duplications and deletions in affected males and carrier females with Pelizaeus-Merzbacher disease Clinical chemistry52:1267-75 2006
PubMed ID: 16644873
 
Kleindorfer, An in-frame deletion in the proteolipid protein gene in a family with Pelizaeus-Merzbacher disease. Am J Hum Genet53(3):A1171 (1993):1267-75 1993
PubMed ID: 16644873

External Links

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dbSNP dbSNP ID: 11785
Gene Cards PLP
PLP1
NCBI Gene Gene ID:5354
NCBI GTR 300401 PROTEOLIPID PROTEIN 1; PLP1
312080 PELIZAEUS-MERZBACHER DISEASE; PMD
OMIM 300401 PROTEOLIPID PROTEIN 1; PLP1
312080 PELIZAEUS-MERZBACHER DISEASE; PMD
Omim Description LIPOPHILINPELIZAEUS-MERZBACHER DISEASE, INCLUDED; PMD, INCLUDED
  PROTEOLIPID PROTEIN, MYELIN; PLP

Images

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Pricing
International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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Same Subject
  • GM13434 - B-Lymphocyte
  • HM13434 - High Molecular Weight DNA
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