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Cellosaurus AMUFAHi003-A (CVCL_B7EU)

[Text version]
Cell line name AMUFAHi003-A
Accession CVCL_B7EU
Resource Identification Initiative To cite this cell line use: AMUFAHi003-A (RRID:CVCL_B7EU)
Comments From: The First Affiliated Hospital of Anhui Medical University; Anhui; China.
Population: Chinese; Han.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 33630; PATL2; Simple; c.223-14_223-2delCCCTCCTGTTCCA; ClinVar=VCV000444049; Zygosity=Heterozygous (PubMed=35397397).
Disease Oocyte maturation defect-4 (NCIt: C188145)
Female infertility due to oocyte meiotic arrest (ORDO: Orphanet_488191)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 28Y
Category Induced pluripotent stem cell
Publications

PubMed=35397397; DOI=10.1016/j.scr.2022.102776
Xue N.-R., Wang Y.-B., Xu X., Jiang X.-H., Li C.-H., Wang J.-Y., Zhou P., Cao Y.-X., Wei Z.-L.
Establishment of pluripotent stem cell line induced by PATL2 heterozygous mutation in patients with oocyte maturation defect-4.
Stem Cell Res. 61:102776-102776(2022)

Cross-references
Cell line databases/resources hPSCreg; AMUFAHi003-A
Biological sample resources BioSamples; SAMEA13189994
Encyclopedic resources Wikidata; Q112929237
Entry history
Entry creation23-Jun-2022
Last entry update29-Jun-2023
Version number4