Generation of an induced pluripotent stem cell line CSSi015-A (9553), carrying a point mutation c.2915C > T in the human calcium sensing receptor (CasR) gene

Giovannina Rotundo; Elisa Maria Turco; Giorgia Ruotolo; Isabella Torrente; Ornella Candido; Gianluca Lopez; Daniela Ferrari; Caterina Caputi; Mario Mastrangelo; Francesco Pisani; Maurizio Gelati; Vito Guarnieri; Angelo Luigi Vescovi; Jessica Rosati

Stem Cell Research (Mar 2023)

Generation of an induced pluripotent stem cell line CSSi015-A (9553), carrying a point mutation c.2915C > T in the human calcium sensing receptor (CasR) gene

Giovannina Rotundo,
Elisa Maria Turco,
Giorgia Ruotolo,
Isabella Torrente,
Ornella Candido,
Gianluca Lopez,
Daniela Ferrari,
Caterina Caputi,
Mario Mastrangelo,
Francesco Pisani,
Maurizio Gelati,
Vito Guarnieri,
Angelo Luigi Vescovi,
Jessica Rosati

Affiliations

Giovannina Rotundo: Cellular Reprogramming Unit, Fondazione I.R.C.C.S. Casa Sollievo della Sofferenza, Viale dei Cappuccini, San Giovanni Rotondo, Foggia 71013, Italy
Elisa Maria Turco: Cellular Reprogramming Unit, Fondazione I.R.C.C.S. Casa Sollievo della Sofferenza, Viale dei Cappuccini, San Giovanni Rotondo, Foggia 71013, Italy
Giorgia Ruotolo: Cellular Reprogramming Unit, Fondazione I.R.C.C.S. Casa Sollievo della Sofferenza, Viale dei Cappuccini, San Giovanni Rotondo, Foggia 71013, Italy; Biotechnology and Bioscience Department, Bicocca University, Piazza della Scienza 2, Milan 20126, Italy
Isabella Torrente: Medical Genetics Unit, Fondazione I.R.C.C.S. Casa Sollievo della Sofferenza, Viale dei Cappuccini, San Giovanni Rotondo, Foggia 71013, Italy
Ornella Candido: Medical Genetics Unit, Fondazione I.R.C.C.S. Casa Sollievo della Sofferenza, Viale dei Cappuccini, San Giovanni Rotondo, Foggia 71013, Italy
Gianluca Lopez: Department of Clinical and Molecular Medicine, Sapienza University and Sant'Andrea Hospital, Rome, Italy
Daniela Ferrari: Biotechnology and Bioscience Department, Bicocca University, Piazza della Scienza 2, Milan 20126, Italy
Caterina Caputi: Child Neurology and Psychiatry Unit Department of Human Neuroscience, Sapienza-University of Rome Via dei Sabelli, 00185, Italy
Mario Mastrangelo: Child Neurology and Psychiatry Unit Department of Human Neuroscience, Sapienza-University of Rome Via dei Sabelli, 00185, Italy
Francesco Pisani: Child Neurology and Psychiatry Unit Department of Human Neuroscience, Sapienza-University of Rome Via dei Sabelli, 00185, Italy
Maurizio Gelati: UPTA Unit Fondazione IRCCS Casa Sollievo della Sofferenza, Viale dei Cappuccini, San Giovanni Rotondo, Foggia 71013, Italy
Vito Guarnieri: Medical Genetics Unit, Fondazione I.R.C.C.S. Casa Sollievo della Sofferenza, Viale dei Cappuccini, San Giovanni Rotondo, Foggia 71013, Italy
Angelo Luigi Vescovi: Cellular Reprogramming Unit, Fondazione I.R.C.C.S. Casa Sollievo della Sofferenza, Viale dei Cappuccini, San Giovanni Rotondo, Foggia 71013, Italy; Biotechnology and Bioscience Department, Bicocca University, Piazza della Scienza 2, Milan 20126, Italy
Jessica Rosati: Cellular Reprogramming Unit, Fondazione I.R.C.C.S. Casa Sollievo della Sofferenza, Viale dei Cappuccini, San Giovanni Rotondo, Foggia 71013, Italy; Corresponding author.

Journal volume & issue: Vol. 67
p. 103023

Abstract

Read online

Familial Hypocalciuric Hypercalcemia (FHH1) is a rare autosomal dominant disease with low penetrance, caused by inactivating mutations of the calcium-sensing receptor (CaSR) gene, characterized by significant hypercalcemia, inappropriately normal serum PTH levels and a low urinary calcium level. Human induced pluripotent stem cells (hiPSCs) from a patient carrying a previously identified heterozygous mutation, a p.T972M amino acid substitution in cytoplasmic tail of CasR, were produced using a virus, xeno-free and non-integrative protocol.

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

About the journal