ID   GM26636
AC   CVCL_LH34
DR   Coriell; GM26636
DR   Wikidata; Q54854137
RX   PubMed=35700637;
CC   Population: Jewish; Ashkenazi.
CC   Sequence variation: Mutation; HGNC; 29331; EPG5; Simple; p.Gln336Arg (c.1007A>G); ClinVar=VCV000192333; Zygosity=Homozygous (PubMed=35700637).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C138174; Vici syndrome
DI   ORDO; Orphanet_1493; Vici syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_LH30 ! GM26249
SX   Male
AG   8Y
CA   Finite cell line
DT   Created: 15-11-17; Last updated: 29-06-23; Version: 11
//
RX   PubMed=35700637; DOI=10.1016/j.scr.2022.102833;
RA   Mitchell M.W., Grandizio C., Turan N., Requesens D.V.;
RT   "An induced pluripotent stem cell line (CIMRi001-A) from a Vici
RT   syndrome donor with a homozygous recessive c.1007A>G (p.Q336R)
RT   mutation in the EPG5 gene.";
RL   Stem Cell Res. 63:102833-102833(2022).
//