Establishment of a patient-specific induced pluripotent stem cell line DHMi004-A from a male Holt-Oram syndrome patient with verified TBX5 mutation


The Holt-Oram syndrome (HOS) is a rare autosomal dominant disorder, mostly based on mutations in the TBX5 gene. Patients show malformation of at least one upper limb along with congenital heart defects. The established induced pluripotent stem cell (iPSC) line was generated from a patient displaying pronounced and typical features of HOS and carrying a single-nucleotide change c.920_C>A leading to an amino acid change from proline to threonine at amino acid position 85, which appeared de novo. Adipose fibroblasts from the patient were reprogrammed using Sendai virus. Pluripotency of the iPSCs was fully demonstrated. Copyright © 2021 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Dreßen M, Lahm H, Neb I, Luzius T, Doppler SA, Schneider S, Dzilic E, Lange R, Krane M
Journal Stem cell research
Publication Date 2022 Jan;58:102617
PubMed 34894535
DOI 10.1016/j.scr.2021.102617

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