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
Issued Date
2026-06-01
Resource Type
ISSN
18735061
eISSN
18767753
Scopus ID
2-s2.0-105034693445
Pubmed ID
41880975
Journal Title
Stem Cell Research
Volume
93
Rights Holder(s)
SCOPUS
Bibliographic Citation
Stem Cell Research Vol.93 (2026)
Suggested Citation
Chokpanuwat T., Yanukun K., Thong-ngam P., Khongkrapan A., Tubsuwan A., Sujirakul T., Chaiamarit T., Bhukhai K., Wongkittichote P., Asavapanumas N. 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 Vol.93 (2026). doi:10.1016/j.scr.2026.103971 Retrieved from: https://repository.li.mahidol.ac.th/handle/123456789/116057
Title
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
Corresponding Author(s)
Other Contributor(s)
Abstract
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 non-integrating method. This hiPSC line demonstrates a normal karyotype and can differentiate into all three germ layers. The MURAi007-A line is a valuable model for investigating PNPLA6 disorder mechanisms and may also aid research into other retinal and neurological diseases.