ID   SKLRMi001-A
AC   CVCL_YT43
DR   BioSamples; SAMEA6649903
DR   hPSCreg; SKLRMi001-A
DR   SKIP; SKIP005783
DR   Wikidata; Q98132682
RX   PubMed=32505105;
CC   From: State Key Laboratory of Reproductive Medicine, Nanjing Medical University; Nanjing; China.
CC   Sequence variation: Mutation; HGNC; 644; AR; Simple; p.Val904Met (c.2710G>A); ClinVar=VCV002138590; Zygosity=Hemizygous (PubMed=32505105).
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)
SX   Male
AG   33Y
CA   Induced pluripotent stem cell
DT   Created: 12-03-20; Last updated: 05-10-23; Version: 8
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RX   PubMed=32505105; DOI=10.1016/j.scr.2020.101863;
RA   Chen J.-Q., Yang X.-Y., Fu B.-F., Zhu P.-M., Zhu Y.-F., Guo X.-J.,
RA   Sha J.-H., Yuan Y.;
RT   "Generation of human induced pluripotent stem cell (SKLRMi001-A) from
RT   a patient with partial androgen insensitivity syndrome (PAIS).";
RL   Stem Cell Res. 46:101863-101863(2020).
//