ID   UAZTi009-A
AC   CVCL_C4P1
SY   MKAZ1
DR   BioSamples; SAMEA111453034
DR   hPSCreg; UAZTi009-A
DR   Wikidata; Q116050662
RX   PubMed=36257093;
CC   From: University of Arizona; Tucson; USA.
CC   Sequence variation: Mutation; HGNC; 17944; EXOSC3; Simple; p.Asp132Ala (c.395A>C); ClinVar=VCV000031688; Zygosity=Heterozygous (PubMed=36257093).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   Age unspecified
CA   Induced pluripotent stem cell
DT   Created: 15-12-22; Last updated: 29-06-23; Version: 3
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RX   PubMed=36257093; DOI=10.1016/j.scr.2022.102944;
RA   Stansfield B.N., Rangasamy S., Ramsey K., Khanna M., Churko J.M.;
RT   "Generation of an iPSC line from a pontocerebellar hypoplasia 1B
RT   patient harboring a homozygous c.395 A > C mutation in EXOSC3 along
RT   with a family matched control.";
RL   Stem Cell Res. 65:102944-102944(2022).
//