Cellosaurus cell line UAZTi009-A (CVCL

Cross-references
Cell line name	UAZTi009-A
Synonyms	MKAZ1
Accession	CVCL_C4P1
Resource Identification Initiative	To cite this cell line use: UAZTi009-A (RRID:CVCL_C4P1)
Comments	From: University of Arizona; Tucson; USA. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:17944; EXOSC3; Simple; p.Asp132Ala (c.395A>C); ClinVar=VCV000031688; Zygosity=Heterozygous (PubMed=36257093).
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	Age unspecified
Category	Induced pluripotent stem cell
Publications	PubMed=36257093; DOI=10.1016/j.scr.2022.102944; PMCID=PMC9729447 Stansfield B.N., Rangasamy S., Ramsey K., Khanna M., Churko J.M. Generation of an iPSC line from a pontocerebellar hypoplasia 1B patient harboring a homozygous c.395 A > C mutation in EXOSC3 along with a family matched control. Stem Cell Res. 65:102944-102944(2022)
Cell line databases/resources	hPSCreg; UAZTi009-A
Biological sample resources	BioSamples; SAMEA111453034
Encyclopedic resources	Wikidata; Q116050662
Entry history
Entry creation	15-Dec-2022
Last entry update	19-Dec-2024
Version number	4