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Cellosaurus UAZTi009-A (CVCL_C4P1)

[Text version]
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; 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)

Cross-references
Cell line databases/resources hPSCreg; UAZTi009-A
Biological sample resources BioSamples; SAMEA111453034
Encyclopedic resources Wikidata; Q116050662
Entry history
Entry creation15-Dec-2022
Last entry update29-Jun-2023
Version number3