Generation and characterization of human iPSC lines (FAHZJUi001-A and FAHZJUi002-A) from two familial recurrent hydatidiform mole patients carrying homozygous mutation in the NLRP7 gene

Hydatidiform mole (HM) is a pathological pregnancy characterized by excessive trophoblast proliferation and the absence of embryonic tissue development, predominantly sporadic in onset. Recurrent hydatidiform mole (RHM) affects approximately 1%-4% of HM patients, among which familial RHM (FRHM) is extremely rare and classified as a monogenic autosomal recessive disorder. NLRP7 (NLR family, pyrin domain containing 7) is the major pathogenic gene for RHM, in which affected individuals have a profound impairment in fertility and a markedly elevated risk of malignant transformation. Yet mechanistic research remains constrained by ethical limitations in human embryo studies and the absence of animal models recapitulating HM phenotypes. Here, we report the generation and characterization of iPSC lines from FRHM patients harboring homozygous NLRP7 variants c.2078G > A (p.Arg693Gln) and c.2161 C > T (p.Arg721Trp), respectively. These cellular models offer a unique platform to dissect molecular pathways driving NLRP7 -mediated reproductive failure, overcoming long-standing barriers in FRHM pathogenesis research.