ID   GM09545
AC   CVCL_7493
DR   CLO; CLO_0011433
DR   Coriell; GM09545
DR   Wikidata; Q54843836
RX   CelloPub=CLPUB00447;
CC   Population: Caucasian; Italian.
CC   Sequence variation: Mutation; HGNC; HGNC:9086; PLP1; Simple; p.Pro216Ser (c.646C>T) (P215S); ClinVar=VCV000011073; Zygosity=Hemizygous (Coriell=GM09545).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
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)
OI   CVCL_F209 ! GM09546
SX   Male
AG   20Y
CA   Transformed cell line
DT   Created: 04-04-12; Last updated: 19-12-24; Version: 18
//
RX   CelloPub=CLPUB00447;
RA   Mulivor R.A., Suchy S.F.;
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992).
//