ID   UCLi024-A
AC   CVCL_D0N1
SY   SIMD277; GOS111B
DR   BioSamples; SAMEA114335215
DR   hPSCreg; UCLi024-A
DR   Wikidata; Q123033677
RX   PubMed=38422816;
CC   From: University College London; London; United Kingdom.
CC   Population: Caucasian; British.
CC   Sequence variation: Mutation; HGNC; 746; ASL; Simple; p.Arg146Gln (c.437G>A); ClinVar=VCV000203627; Zygosity=Homozygous (PubMed=38422816).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C84569; Argininosuccinic aciduria
DI   ORDO; Orphanet_23; Argininosuccinic aciduria
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   11Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 10-09-24; Version: 3
//
RX   PubMed=38422816; DOI=10.1016/j.scr.2024.103365;
RA   Duff C., Islam M., Gagliano O., Pramod H., Rashidi H., Kurian M.A.,
RA   Gissen P., Baruteau J.;
RT   "Generation of induced pluripotent stem cells (UCLi024-A) from a
RT   patient with argininosuccinate lyase deficiency carrying a homozygous
RT   c.437G > A (p.Arg146Gln) mutation.";
RL   Stem Cell Res. 76:103365-103365(2024).
//