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Article

Heterozygous loss of TSC2 alters p53 signaling and human stem cell reprogramming.

Human molecular genetics - 1 Dec 2017

Armstrong Laura C, Westlake Grant, Snow John P, Cawthon Bryan, Armour Eric, Bowman Aaron B, Ess Kevin C

Abstract excerpt

Tuberous sclerosis complex (TSC) is a pediatric disorder of dysregulated growth and differentiation caused by loss of function mutations in either the TSC1 or TSC2 genes, which regulate mTOR kinase activity. To study aberrations of early development in TSC, we generated induced pluripotent stem cells using dermal fibroblasts obtained from patients with TSC. During validation, we found that stem cells generated...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 28973543
DOI: 10.1093/hmg/ddx345
PMCID: PMC5886307

Genes

TSC2
TSC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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Heterozygous loss of TSC2 alters p53 signaling and human stem cell reprogramming.PMID 28973543Read ↗

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