Cellosaurus logo
expasy logo

Cellosaurus WISCi016-A-1 (CVCL_ZB38)

[Text version]
Cell line name WISCi016-A-1
Synonyms WC-14-01-AL-AM-GFAP-R416R
Accession CVCL_ZB38
Resource Identification Initiative To cite this cell line use: WISCi016-A-1 (RRID:CVCL_ZB38)
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; HGNC:4235; GFAP; Simple_corrected; p.Arg416Trp (c.1246C>T); ClinVar=VCV000016169; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=30355500).
Disease Alexander disease (NCIt: C84545)
Alexander disease (ORDO: Orphanet_58)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_ZB37 (WISCi016-A)
Sex of cell Male
Age at sampling 8Y
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; WISCi016-A-1
Encyclopedic resources Wikidata; Q98134944
Entry history
Entry creation02-Jul-2020
Last entry update19-Dec-2024
Version number7