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Article

Human induced pluripotent stem cells generated from a patient with a homozygous mutation in the Lyn kinase gene.

Stem cell research - 1 Oct 2022

Harper Rebecca, Yu Quan, Liu Yangtenyu, Yang Dan, Zou Jizhong, Beers Jeanette, de Jesus Rasheed Adriana A, Goldbach-Mansky Raphaela, Boehm Manfred, Chen Guibin

Abstract excerpt

We have successfully generated induced pluripotent stem cells (iPSC) from dermal fibroblasts of the patient with a germline mutation in the coding region of the LYN kinase gene. This gain of function (GOF) mutation eliminates the inhibitory tyrosine (Y) at the position p.Y508, with an unknown established disease etiology. The iPSC carrying germline mutation in LYN are phenotypically normal, and they have capacity...

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Identifiers

PMID: 36215934
DOI: 10.1016/j.scr.2022.102933
PMCID: PMC9674432

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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