ID   PMD2-10
AC   CVCL_Y532
DR   SKIP; SKIP000519
DR   Wikidata; Q54947624
RX   PubMed=24936452;
CC   Sequence variation: Mutation; HGNC; HGNC:9086; PLP1; Simple; p.Pro216Ser (c.646C>T) (P215S); ClinVar=VCV000011073; Zygosity=Hemizygous (PubMed=24936452).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C75487; Pelizaeus-Merzbacher disease
DI   ORDO; Orphanet_702; Pelizaeus-Merzbacher disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_Y534 ! PMD2-6
OI   CVCL_Y533 ! PMD2-22
SX   Male
AG   20Y
CA   Induced pluripotent stem cell
DT   Created: 07-11-14; Last updated: 19-12-24; Version: 12
//
RX   PubMed=24936452; DOI=10.1016/j.stemcr.2014.03.007; PMCID=PMC4050482;
RA   Numasawa-Kuroiwa Y., Okada Y., Shibata S., Kishi N., Akamatsu W.,
RA   Shoji M., Nakanishi A., Oyama M., Osaka H., Inoue K., Takahashi K.,
RA   Yamanaka S., Kosaki K., Takahashi T., Okano H.;
RT   "Involvement of ER stress in dysmyelination of Pelizaeus-Merzbacher
RT   disease with PLP1 missense mutations shown by iPSC-derived
RT   oligodendrocytes.";
RL   Stem Cell Reports 2:648-661(2014).
//