ID   GM13434
AC   CVCL_5P75
DR   CLO; CLO_0012675
DR   Coriell; GM13434
DR   Wikidata; Q54846524
RX   PubMed=7539213;
RX   PubMed=23665875;
CC   Sequence variation: Mutation; HGNC; HGNC:9086; PLP1; Simple; p.Thr118_Val166del (c.352_499del); Zygosity=Hemizygous (PubMed=7539213).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Omics: CNV analysis.
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C75487; Pelizaeus-Merzbacher disease
DI   ORDO; Orphanet_702; Pelizaeus-Merzbacher disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   Age unspecified
CA   Transformed cell line
DT   Created: 23-02-16; Last updated: 19-12-24; Version: 11
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RX   PubMed=7539213; DOI=10.1002/ajmg.1320550404;
RA   Kleindorfer D.O., Dlouhy S.R., Pratt V.M., Jones M.C., Trofatter J.A.,
RA   Hodes M.E.;
RT   "In-frame deletion in the proteolipid protein gene of a family with
RT   Pelizaeus-Merzbacher disease.";
RL   Am. J. Med. Genet. 55:405-407(1995).
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RX   PubMed=23665875; DOI=10.1534/g3.113.006577; PMCID=PMC3704242;
RA   Tang Z.-Y., Berlin D.S., Toji L.H., Toruner G.A., Beiswanger C.M.,
RA   Kulkarni S., Martin C.L., Emanuel B.S., Christman M., Gerry N.P.;
RT   "A dynamic database of microarray-characterized cell lines with
RT   various cytogenetic and genomic backgrounds.";
RL   G3 (Bethesda) 3:1143-1149(2013).
//