Generation of a human iPSC line, INMi007-A, carrying compound heterozygous DCT variants associated with oculocutaneous albinism type 8
Summary
Pathogenic variants in the Dopachrome tautomerase (DCT) gene (NM_001129889.2) have recently been associated with a novel oculocutaneous albinism (OCA) subgroup, type 8 (OCA8). Here, we report the establishment of an induced pluripotent stem cell (iPSC) line, INMi007-A, derived from the skin fibroblasts of an individual compound heterozygous for two pathogenic variants in DCT, using the non-integrative Sendai virus reprogramming method. This iPSC line harbors a single-nucleotide variant in exon 1 of DCT (c.118T > A; p.(Cys40Ser)) and a 14-bp deletion in exon 9 (c.1406_1419del; p.(Phe469*)). This cell line represents an important tool for studying the pathophysiology of OCA8. Copyright © 2025 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Mamaeva D, Erkilic N, Vaché C, Prados J, Guillou L, Roux AF, Meunier I, Marlin S, Javerzat S, Arveiler B, Kalatzis V |
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| Journal | Stem cell research |
| Publication Date | 2025 Aug 20;88:103810 |
| PubMed | 40865208 |
| DOI | 10.1016/j.scr.2025.103810 |