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Generation of two hiPSC lines carrying compound heterozygous RDH12 mutations in a LCA patient.

Stem cell research - 1 Dec 2024

Guo Fuying, Xu Ping, Zheng Dandan, Zhong Xiufeng

Abstract excerpt

Leber's congenital amaurosis (LCA) is a complex inherited retinal dystrophy characterized by severe vision loss and even blindness early in life, caused by more than 38 genes. Variations in RDH12 were found to be responsible for LCA. We successfully generated two induced pluripotent stem cell lines from a patient diagnosed with LCA carrying the RDH12 compound heterozygous mutations c.524C>T (p.Ser175Leu) and...

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Alcohol Oxidoreductases
Cell Differentiation
Cell Line
Heterozygote
Induced Pluripotent Stem Cells

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Leber Congenital Amaurosis

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PMID: 39142122
DOI: 10.1016/j.scr.2024.103525

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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