Generation of the induced pluripotent stem cell line UNIBSi017-A from an individual with cardiospondylocarpofacial syndrome and the MAP3K7 c.737-7A > G variant

Serena Calamaio; Marialaura Serzanti; Silvia Morlino; Marialuisa Massardi; Marco Ritelli; Giovanna Piovani; Marina Colombi; Venusia Cortellini; Marco Castori; Patrizia Dell'Era; Lucia Micale

Stem Cell Research (Aug 2022)

Generation of the induced pluripotent stem cell line UNIBSi017-A from an individual with cardiospondylocarpofacial syndrome and the MAP3K7 c.737-7A > G variant

Serena Calamaio,
Marialaura Serzanti,
Silvia Morlino,
Marialuisa Massardi,
Marco Ritelli,
Giovanna Piovani,
Marina Colombi,
Venusia Cortellini,
Marco Castori,
Patrizia Dell'Era,
Lucia Micale

Affiliations

Serena Calamaio: Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy
Marialaura Serzanti: Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy
Silvia Morlino: Division of Medical Genetics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo (Foggia), Italy
Marialuisa Massardi: Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy
Marco Ritelli: Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy
Giovanna Piovani: Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy
Marina Colombi: Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy
Venusia Cortellini: Department of Medical and Surgical Specialties, Radiological Sciences and Public Health, Forensic Medicine Unit, University of Brescia, Brescia, Italy
Marco Castori: Division of Medical Genetics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo (Foggia), Italy
Patrizia Dell'Era: Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy; Corresponding authors.
Lucia Micale: Division of Medical Genetics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo (Foggia), Italy; Corresponding authors.

Journal volume & issue: Vol. 63
p. 102837

Abstract

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TAK1 is a serine threonine kinase that mediates signal transduction induced by TGFβ and bone morphogenetic proteins, and controls a variety of cell functions by modulating the downstream activation of NF-kkB, JNK, and p38. Heterozygous variants in the coding MAP3K7 gene cause the cardiospondylocarpofacial syndrome, characterized by various abnormalities. Skin fibroblasts derived from a patient carrying the MAP3K7 c.737-7A>G heterozygous variant were reprogrammed using Sendai viral vector system carrying the Yamanaka factors. The generated induced pluripotent stem cells (iPSC) line retained the original genotype, expressed pluripotency markers, and differentiated into cells of the three germ layers.

Published in Stem Cell Research

ISSN: 1873-5061 (Print); 1876-7753 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Science: Biology (General)
Website: https://www.journals.elsevier.com/stem-cell-research

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