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Article

Generation of integration-free induced pluripotent stem cell lines derived from two patients with X-linked Alport syndrome (XLAS).

Stem cell research - 1 Dec 2017

Kuebler Bernd, Aran Begoña, Miquel-Serra Laia, Muñoz Yolanda, Ars Elisabet, Bullich Gemma, Furlano Monica, Torra Roser, Marti Merce, Veiga Anna, Raya Angel

Abstract excerpt

Skin biopsies were obtained from two male patients with X-linked Alport syndrome (XLAS) with hemizygous COL4A5 mutations in exon 41 or exon 46. Dermal fibroblasts were extracted and reprogrammed by nucleofection with episomal plasmids carrying OCT3/4, SOX2, KLF4 LIN28, L-MYC and p53 shRNA. The generated induced Pluripotent Stem Cell (iPSC) lines AS-FiPS2-Ep6F-28 and AS-FiPS3-Ep6F-9 were free of genomically...

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Source

Identifiers

PMID: 29150092
DOI: 10.1016/j.scr.2017.08.019

Genes

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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Generation of integration-free induced pluripotent stem cell lines derived from two patients with X-linked Alport syndrome (XLAS).PMID 29150092Read ↗

Integration-free induced pluripotent stem cells derived from a patient with autosomal recessive Alport syndrome (ARAS).Semantic proximity Read ↗

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Generation of an iPSC line (GWCMCi002-A) from an X-linked Alport syndrome patient with a hemizygous splicing mutation (NM_000495.4, c. 1517-1 G > T) in the COL4A5 gene.Semantic proximity Read ↗

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