ID   AMUFAHi003-A
AC   CVCL_B7EU
DR   BioSamples; SAMEA13189994
DR   hPSCreg; AMUFAHi003-A
DR   Wikidata; Q112929237
RX   PubMed=35397397;
CC   From: The First Affiliated Hospital of Anhui Medical University; Anhui; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 33630; PATL2; Simple; c.223-14_223-2delCCCTCCTGTTCCA; ClinVar=VCV000444049; Zygosity=Heterozygous (PubMed=35397397).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C188145; Oocyte maturation defect-4
DI   ORDO; Orphanet_488191; Female infertility due to oocyte meiotic arrest
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   28Y
CA   Induced pluripotent stem cell
DT   Created: 23-06-22; Last updated: 29-06-23; Version: 4
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RX   PubMed=35397397; DOI=10.1016/j.scr.2022.102776;
RA   Xue N.-R., Wang Y.-B., Xu X., Jiang X.-H., Li C.-H., Wang J.-Y.,
RA   Zhou P., Cao Y.-X., Wei Z.-L.;
RT   "Establishment of pluripotent stem cell line induced by PATL2
RT   heterozygous mutation in patients with oocyte maturation defect-4.";
RL   Stem Cell Res. 61:102776-102776(2022).
//