ID   WMUi005-A
AC   CVCL_A1XN
SY   502-RP-i01C
DR   BioSamples; SAMEA6907395
DR   hPSCreg; WMUi005-A
DR   Wikidata; Q105511757
RX   PubMed=33207307;
CC   From: Wenzhou Medical University; Wenzhou; China.
CC   Population: Chinese.
CC   Sequence variation: Mutation; HGNC; 29326; SLC7A14; Simple; p.Gly330Arg (c.988G>A); ClinVar=VCV000126446; Zygosity=Heterozygous (PubMed=33207307).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   Adult
CA   Induced pluripotent stem cell
DT   Created: 12-01-21; Last updated: 29-06-23; Version: 4
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RX   PubMed=33207307; DOI=10.1016/j.scr.2020.102075;
RA   Li Y.-P., Liu H., Jin Z.-B.;
RT   "Generation of three human iPSC lines from a retinitis pigmentosa
RT   family with SLC7A14 mutation.";
RL   Stem Cell Res. 49:102075-102075(2020).
//