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Cellosaurus PMD1-27 (CVCL_Y530)

[Text version]
Cell line name PMD1-27
Accession CVCL_Y530
Resource Identification Initiative To cite this cell line use: PMD1-27 (RRID:CVCL_Y530)
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.Ser253Thr (c.757T>A); 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_Y531 ! PMD1-7
CVCL_Y529 ! PMD1-15
Sex of cell Male
Age at sampling 1Y
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)

Cross-references
Cell line databases/resources SKIP; SKIP000517
Encyclopedic resources Wikidata; Q54947621
Entry history
Entry creation07-Nov-2014
Last entry update19-Dec-2024
Version number10