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 Yuko Numasawa-Kuroiwa, Yohei Okada, Shinsuke Shibata, Noriyuki Kishi, Wado Akamatsu, Masanobu Shoji, Atsushi Nakanishi, Manabu Oyama, Hitoshi Osaka, Ken Inoue, Kazutoshi Takahashi ...Show all 15 authors... , Shinya Yamanaka, Kenjiro Kosaki, Takao Takahashi, Hideyuki Okano; Show fewer authors 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