Cellosaurus cell line UAZTi011-A (CVCL

Cross-references
Cell line name	UAZTi011-A
Synonyms	MKAZ3
Accession	CVCL_C4P3
Resource Identification Initiative	To cite this cell line use: UAZTi011-A (RRID:CVCL_C4P3)
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; 17944; EXOSC3; Simple; p.Asp132Ala (c.395A>C); ClinVar=VCV000031688; Zygosity=Homozygous (PubMed=36257093).
Disease	Pontocerebellar hypoplasia type 1B (NCIt: C190872) Pontocerebellar hypoplasia type 1 (ORDO: Orphanet_2254)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
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; UAZTi011-A
Biological sample resources	BioSamples; SAMEA111453036
Encyclopedic resources	Wikidata; Q116050665
Entry history
Entry creation	15-Dec-2022
Last entry update	29-Jun-2023
Version number	3