Cellosaurus cell line WISCi016-A-1 (CVCL

Cross-references
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 Jeffrey R. Jones, Ling-Hai Kong, Michael George Hanna 4th, Brianna Hoffman, Robert Krencik, Robert Bradley, Tracy Hagemann, Jeea Choi, Matthew E. Doers, Marina Dubovis, Mohammad Amin Sherafat ...Show all 16 authors... , Anita Bhattacharyya, Christina Marie Kendziorski, Anjon Audhya, Albee Messing, Su-Chun Zhang; Show fewer authors Mutations in GFAP disrupt the distribution and function of organelles in human astrocytes. Cell Rep. 25:947-958.e4(2018)
Cell line databases/resources	hPSCreg; WISCi016-A-1
Encyclopedic resources	Wikidata; Q98134944
Entry history
Entry creation	02-Jul-2020
Last entry update	19-Dec-2024
Version number	7