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Establishment of an induced pluripotent stem cell line from a retinitis pigmentosa patient with compound heterozygous CRB1 mutation.

Stem cell research - 1 Aug 2018

Zhang Xiao, Zhang Dan, Chen Shang-Chih, Lamey Tina, Thompson Jennifer A, McLaren Terri, De Roach John N, Chen Fred K, McLenachan Samuel

Abstract excerpt

The human iPSC line LEIi006-A was generated from dermal fibroblasts from a patient with retinitis pigmentosa using episomal plasmids containing OCT4, SOX2, KLF4, L-MYC, LIN28, mir302/367 microRNA and shRNA for p53. The iPSC cells carry compound heterozygous mutations (c.1892A > G and c.2548G > A) in the CRB1 gene. LEIi006-A expressed pluripotent stem cell markers, had a normal karyotype and could be...

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Source

Identifiers

PMID: 30092450
DOI: 10.1016/j.scr.2018.08.001

Genes

CRB1
KLF4
MYC
SOX2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Establishment of an induced pluripotent stem cell line from a retinitis pigmentosa patient with compound heterozygous CRB1 mutation.PMID 30092450Read ↗

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