Generation of a human iPSC line, INMi007-A, carrying compound heterozygous DCT variants associated with oculocutaneous albinism type 8

Daria Mamaeva; Nejla Erkilic; Christel Vaché; Jérôme Prados; Laurent Guillou; Anne-Françoise Roux; Isabelle Meunier; Sandrine Marlin; Sophie Javerzat; Benoit Arveiler; Vasiliki Kalatzis

doi:10.1016/j.scr.2025.103810

Generation of a human iPSC line, INMi007-A, carrying compound heterozygous DCT variants associated with oculocutaneous albinism type 8

Stem Cell Res. 2025 Oct:88:103810. doi: 10.1016/j.scr.2025.103810. Epub 2025 Aug 20.

Affiliations

¹ Institute for Neurosciences of Montpellier (INM), University of Montpellier, Inserm, Montpellier, France.
² Institute for Neurosciences of Montpellier (INM), University of Montpellier, Inserm, Montpellier, France; National Reference Centre for Inherited Sensory Diseases, University of Montpellier, CHU, Montpellier, France.
³ Institute for Neurosciences of Montpellier (INM), University of Montpellier, Inserm, Montpellier, France; Molecular Genetics Laboratory, University of Montpellier, CHU Montpellier, Montpellier, France.
⁴ National Reference Centre for Genetic Hearing Loss, Genomic Medicine Federation, Hôpital Necker-Enfants Malades, AP-HP, University Paris Cité, Paris, France; Laboratory of Genetics of Rare Ophthalmological, Auditory and Mitochondrial Disorders, Imagine Institute, INSERM UMR 1163, University Paris Cité, Paris, France.
⁵ Rare Diseases, Genetics and Metabolism, INSERM U1211, University of Bordeaux, Bordeaux, France.
⁶ Rare Diseases, Genetics and Metabolism, INSERM U1211, University of Bordeaux, Bordeaux, France; Molecular Genetics Laboratory, Bordeaux University Hospital, Bordeaux, France.
⁷ Institute for Neurosciences of Montpellier (INM), University of Montpellier, Inserm, Montpellier, France; National Reference Centre for Inherited Sensory Diseases, University of Montpellier, CHU, Montpellier, France. Electronic address: vasiliki.kalatzis@inserm.fr.

PMID: 40865208
DOI: 10.1016/j.scr.2025.103810

Abstract

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.

MeSH terms

Albinism, Oculocutaneous* / genetics
Albinism, Oculocutaneous* / pathology
Cell Line
Heterozygote
Humans
Induced Pluripotent Stem Cells* / cytology
Induced Pluripotent Stem Cells* / metabolism
Intramolecular Oxidoreductases* / genetics
Intramolecular Oxidoreductases* / metabolism

Substances

dopachrome isomerase
Intramolecular Oxidoreductases