Cellosaurus cell line AMUFAHi003-A (CVCL

Cross-references
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; 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 Nai-Rui Xue, Yi-Bing Wang, Xuan Xu, Xiao-Hua Jiang, Cai-Hua Li, Jian-Ye Wang, Ping Zhou, Yun-Xia Cao, Zhao-Lian Wei; 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)
Cell line databases/resources	hPSCreg; AMUFAHi003-A
Biological sample resources	BioSamples; SAMEA13189994
Encyclopedic resources	Wikidata; Q112929237
Entry history
Entry creation	23-Jun-2022
Last entry update	19-Dec-2024
Version number	5