Establishment of a human induced pluripotent stem cell line, KMUGMCi003-A, from a patient with trichothiodystrophy 1 (TTD1) bearing compound heterozygous missense mutations in the ERCC2 gene


Trichothiodystrophy 1 (TTD1) is a rare, autosomal recessive, multisystem disorder characterized by the sulfur-deficient brittle hair, cutaneous photosensitivity, high risk of skin cancer, psychomotor retardation. TTD1 is caused by homozygous or compound heterozygous mutation in ERCC2 gene. The peripheral blood mononuclear cells (PBMCs) from a patient carrying two heterozygous missense mutations of the ERCC2 gene were reprogrammed using the CytoTune-iPS2.0 Sendai Reprogramming Kit. The putative compound heterozygous mutation in ERCC2 will cause the abnormal protein, which is known to associated with TTD1. The established human induced pluripotent cell (hiPSC) line will enable proper in vitro disease modelling of TTD1. Copyright © 2022 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors Ura H, Togi S, Hatanaka H, Niida Y
Journal Stem cell research
Publication Date 2022 Oct;64:102885
PubMed 35944311
DOI 10.1016/j.scr.2022.102885

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