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Establishment of FDHSi003-A, a human induced pluripotent stem cell (hiPSC) line with a mutation of RNF216 c.1948G > T.

Stem cell research - 1 Apr 2024

Xu Wenqing, Chen Keliang, Guo Min, Dong Qiang, Cui Mei

Abstract excerpt

Gordon Holmes Syndrome (GDHS) is a hereditary neurodegenerative disease mainly associated with mutations of RNF216. We established a human induced pluripotent stem cell (hiPSC) line, FDHSi003-A, derived from PBMC of a patient baring a mutation of RNF216 c.1948G > T, who shows typical symptoms of GDHS. The generated FDHSi003-A expresses pluripotency markers, displays a normal karyotype, and has the potency to...

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PMID: 38377650
DOI: 10.1016/j.scr.2024.103347

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