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Establishment of a human induced pluripotent stem cell line (BTHBIOi005-A) from a retinitis pigmentosa patient with a MERTK gene mutation.

Stem cell research - 1 Apr 2026

Liu Zhen-Yu, Zhang Hang, Zhang Xiao-Hui, Shen Ren-Juan, Jin Zi-Bing

Abstract excerpt

RP38 is an autosomal recessive retinitis pigmentosa (RP) caused by mutations in the MERTK gene. In this study, peripheral blood mononuclear cells were isolated from a 26-year-old female patient with RP, who was confirmed to carry compound heterozygous MERTK variants (c.291_292delAC, p.T99Sfs*8; c.1296 + 1G > A). A human induced pluripotent stem cell (iPSC) line was successfully established through a...

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Source

Identifiers

PMID: 41713384
DOI: 10.1016/j.scr.2026.103941

Genes

MERTK
SOX2
KLF4
MYC
NANOG

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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Establishment of a human induced pluripotent stem cell line (BTHBIOi005-A) from a retinitis pigmentosa patient with a MERTK gene mutation.PMID 41713384Read ↗

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