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

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.

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Publication Details

Journal
Stem Cell Research
Published
2025-08-21
DOI
https://doi.org/10.1016/j.scr.2025.103810
Primary Topic
melanin and skin pigmentation
Type
article
Field-Weighted Citation Impact
0.00

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article

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

Sophie Javerzat, Benoı̂t Arveiler, Christel Vaché, Anne‐Françoise Roux et al.
Stem Cell Research
melanin and skin pigmentation
article

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

Sophie Javerzat, Benoı̂t Arveiler, Christel Vaché, Anne‐Françoise Roux, Daria Mamaeva, Isabelle Meunier, Sandrine Marlin, José Prados, Laurent Guillou, Vasiliki Kalatzis, Nejla Erkilic
article en

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.

Stem Cell ResearchVol. 88
Hôpital Necker-Enfants Malades (FR), Université de Bordeaux (FR), Inserm (FR), Université de Montpellier (FR), Université Paris Cité (FR), Assistance Publique – Hôpitaux de Paris (FR), Bordeaux Population Health (FR), Institute for Neurosciences of Montpellier (FR), Maladies Rares: Génétique et Métabolisme (FR)
Agence Nationale de la Recherche
Zero hunger
Openalex Percentile: Top 77%
melanin and skin pigmentation
DOIOpen Access PDFOpenAlex
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