ID   GM13433
AC   CVCL_5P74
DR   CLO; CLO_0012674
DR   BioSample; SAMN00802370
DR   Coriell; GM13433
DR   Wikidata; Q54846523
CC   Sequence variation: Mutation; HGNC; HGNC:9086; PLP1; Simple; p.Pro15Leu (c.44C>T) (P14L); ClinVar=VCV000011075; Zygosity=Hemizygous (Coriell=GM13433).
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   12Y
CA   Transformed cell line
DT   Created: 23-02-16; Last updated: 19-12-24; Version: 13
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