ID   GM13436
AC   CVCL_5P77
DR   CLO; CLO_0012664
DR   BioSample; SAMN00802374
DR   Coriell; GM13436
DR   Wikidata; Q54846527
CC   Sequence variation: Mutation; HGNC; HGNC:9086; PLP1; Simple; p.Thr43Ile (c.128C>T) (T42I); ClinVar=VCV000011086; Zygosity=Hemizygous (Coriell=GM13436).
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)
SX   Male
AG   7Y
CA   Transformed cell line
DT   Created: 23-02-16; Last updated: 19-12-24; Version: 13
//