ID   AQH-hET-GBE1-Y34*
AC   CVCL_ZF59
DR   Wikidata; Q98125478
RX   PubMed=32366884;
CC   Sequence variation: Mutation; VGNC; VGNC:18263; GBE1; Simple; p.Tyr34Ter (c.102C>A); Zygosity=Heterozygous (PubMed=32366884).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
CC   Breed/subspecies: American Quarter Horse; VBO=VBO_0001057.
OX   NCBI_TaxID=9796; ! Equus caballus (Horse)
SX   Male
AG   Age unspecified
CA   Finite cell line
DT   Created: 02-07-20; Last updated: 19-12-24; Version: 9
//
RX   PubMed=32366884; DOI=10.1038/s41598-020-62723-3; PMCID=PMC7198616;
RA   Pinzon-Arteaga C.A., Snyder M.D., Lazzarotto C.R., Moreno N.F.,
RA   Juras R., Raudsepp T., Golding M.C., Varner D.D., Long C.R.;
RT   "Efficient correction of a deleterious point mutation in primary horse
RT   fibroblasts with CRISPR-Cas9.";
RL   Sci. Rep. 10:7411.1-7411.11(2020).
//