Cellosaurus cell line PMD2-6 (CVCL

Cross-references
Cell line name	PMD2-6
Accession	CVCL_Y534
Resource Identification Initiative	To cite this cell line use: PMD2-6 (RRID:CVCL_Y534)
Comments	Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:9086; PLP1; Simple; p.Pro216Ser (c.646C>T) (P215S); ClinVar=VCV000011073; Zygosity=Hemizygous (PubMed=24936452).
Disease	Pelizaeus-Merzbacher disease (NCIt: C75487) Pelizaeus-Merzbacher disease (ORDO: Orphanet_702)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual	CVCL_Y532 ! PMD2-10 CVCL_Y533 ! PMD2-22
Sex of cell	Male
Age at sampling	20Y
Category	Induced pluripotent stem cell
Publications	PubMed=24936452; DOI=10.1016/j.stemcr.2014.03.007; PMCID=PMC4050482 Numasawa-Kuroiwa Y., Okada Y., Shibata S., Kishi N., Akamatsu W., Shoji M., Nakanishi A., Oyama M., Osaka H., Inoue K., Takahashi K., Yamanaka S., Kosaki K., Takahashi T., Okano H. Involvement of ER stress in dysmyelination of Pelizaeus-Merzbacher disease with PLP1 missense mutations shown by iPSC-derived oligodendrocytes. Stem Cell Reports 2:648-661(2014)
Cell line databases/resources	SKIP; SKIP000518
Encyclopedic resources	Wikidata; Q54947626
Entry history
Entry creation	07-Nov-2014
Last entry update	19-Dec-2024
Version number	12