ID   EXSURGi001-A
AC   CVCL_E3V5
SY   SevXC_MTARC1
DR   BioSamples; SAMEA115836031
DR   hPSCreg; EXSURGi001-A
RX   PubMed=39094505;
CC   From: Experimental Surgery, Charite, Universitatsmedizin Berlin; Berlin; Germany.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:26189; MTARC1; Simple; p.Ala165Thr (c.493G>A); dbSNP=rs2642438; Zygosity=Homozygous (PubMed=39094505).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   65Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-24; Last updated: 19-12-24; Version: 1
//
RX   PubMed=39094505; DOI=10.1016/j.scr.2024.103516;
RA   Tang P., Keshi E., Wilken S., Wutsdorff L., Mougnekabol J., Pratschke J.,
RA   Sauer I.M., Haep N.;
RT   "Generation of an induced pluripotent stem cell (iPSC) line
RT   (EXSURGi001-A) from a patient homozygous for the p.Ala165Thr mutation
RT   in the MTARC1 gene.";
RL   Stem Cell Res. 80:103516-103516(2024).
//