ID   SKLRMi001-A-1
AC   CVCL_D0LQ
SY   AR repaired iPSCs
DR   BioSamples; SAMEA112648452
DR   hPSCreg; SKLRMi001-A-1
DR   Wikidata; Q123033516
RX   PubMed=37148822;
CC   From: State Key Laboratory of Reproductive Medicine, Nanjing Medical University; Nanjing; China.
CC   Sequence variation: Mutation; HGNC; 644; AR; Simple_corrected; p.Val904Met (c.2710G>A); ClinVar=VCV002138590; Zygosity=Hemizygous; Note=By CRISPR/Cas9 (PubMed=37148822).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C120192; Partial androgen insensitivity syndrome
DI   ORDO; Orphanet_90797; Partial androgen insensitivity syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_YT43 ! SKLRMi001-A
SX   Male
AG   33Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 30-01-24; Version: 2
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RX   PubMed=37148822; DOI=10.1016/j.scr.2023.103102;
RA   Sun R.-Q., Cui Y.-Q., Liu Z.-D., Guo J.-Y., Zhang X., Zhu P.-M.,
RA   Sha J.-H., Yang X.-X., Yuan Y.;
RT   "A prime editor efficiently repaired human induced pluripotent stem
RT   cells with AR gene mutation (c.2710G>A; p.V904M).";
RL   Stem Cell Res. 69:103102-103102(2023).
//