Article
Establishment of MURAi007-A, a human induced pluripotent stem cell line from a patient with inherited retinal dystrophy carrying compound heterozygous mutations in the PNPLA6 gene.
Stem cell research - 1 Jun 2026
Chokpanuwat Tanida, Yanukun Klodthida, Thong-Ngam Pirut, Khongkrapan Arthaporn, Tubsuwan Alisa, Sujirakul Tharikarn, Chaiamarit Tai, Bhukhai Kanit, Wongkittichote Parith, Asavapanumas Nithi
Abstract excerpt
Pathogenic variants in PNPLA6, encoding neuropathy target esterase (NTE), cause PNPLA6 disorders, characterized by chorioretinal dystrophy, hypopituitarism, and peripheral neuropathy. While defective NTE disrupts phospholipid homeostasis, the disease mechanism remains unclear. We generated the MURAi007-A human induced pluripotent stem cell (hiPSC) line from a male patient with PNPLA6 disorders using a...
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