ID   HUSTi002-A
AC   CVCL_YR04
DR   hPSCreg; HUSTi002-A
DR   SKIP; SKIP005639
DR   Wikidata; Q94309394
RX   PubMed=32006804;
CC   From: Huazhong University of Science and Technology Tongji Medicine College; Wuhan; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 17644; PIWIL2; Simple; p.His244Argfs (c.731_732delAT); Zygosity=Homozygous (PubMed=32006804).
CC   Derived from site: In situ; Scrotum, skin; UBERON=UBERON_0015479.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): PubMed=32006804
ST   Amelogenin: X,Y
ST   CSF1PO: 12
ST   D13S317: 11
ST   D16S539: 10
ST   D21S11: 30,32.2
ST   D5S818: 12,13
ST   D7S820: 11,12
ST   TH01: 6
ST   TPOX: 9
ST   vWA: 14,17
DI   NCIt; C168988; Sertoli cell-only syndrome
DI   ORDO; Orphanet_399786; Male infertility with spermatogenesis disorder due to single gene mutation
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   45Y
CA   Induced pluripotent stem cell
DT   Created: 12-03-20; Last updated: 29-06-23; Version: 9
//
RX   PubMed=32006804; DOI=10.1016/j.scr.2020.101703;
RA   Wang X.-T., Xie S.-M., Li Z.-L., Ye Z., Gu X.-L., Zhou L.-Q., Li H.-G.;
RT   "Generation of an iPSC line (HUSTi002-A) from fibroblasts of a patient
RT   with Sertoli cell-only syndrome carrying c.731_732delAT in PIWIL2
RT   gene.";
RL   Stem Cell Res. 42:101703-101703(2020).
//