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Cellosaurus WISCi015-A (CVCL_ZB35)

[Text version]
Cell line name WISCi015-A
Synonyms WC-01-01-AL-AM-GFAP-R88C
Accession CVCL_ZB35
Resource Identification Initiative To cite this cell line use: WISCi015-A (RRID:CVCL_ZB35)
Comments From: University of Wisconsin; Madison; USA.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 4235; GFAP; Simple; p.Arg88Cys (c.262C>T); ClinVar=VCV000016172; Zygosity=Heterozygous (PubMed=30355500).
Disease Alexander disease (NCIt: C84545)
Alexander disease (ORDO: Orphanet_58)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_ZB36 (WISCi015-A-1)
Sex of cell Male
Age at sampling 5Y
Category Induced pluripotent stem cell
Publications

PubMed=30355500; DOI=10.1016/j.celrep.2018.09.083; PMCID=PMC6275075
Jones J.R., Kong L.-H., Hanna M.G. 4th, Hoffman B., Krencik R., Bradley R., Hagemann T., Choi J., Doers M.E., Dubovis M., Sherafat M.A., Bhattacharyya A., Kendziorski C.M., Audhya A., Messing A., Zhang S.-C.
Mutations in GFAP disrupt the distribution and function of organelles in human astrocytes.
Cell Rep. 25:947-958.e4(2018)

Cross-references
Cell line databases/resources hPSCreg; WISCi015-A
Encyclopedic resources Wikidata; Q98134938
Entry history
Entry creation02-Jul-2020
Last entry update29-Jun-2023
Version number6