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. 2023 Mar:67:103023.
doi: 10.1016/j.scr.2023.103023. Epub 2023 Jan 7.

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  1 , Elisa Maria Turco  1 , Giorgia Ruotolo  2 , Isabella Torrente  3 , Ornella Candido  3 , Gianluca Lopez  4 , Daniela Ferrari  5 , Caterina Caputi  6 , Mario Mastrangelo  6 , Francesco Pisani  6 , Maurizio Gelati  7 , Vito Guarnieri  3 , Angelo Luigi Vescovi  2 , Jessica Rosati  8
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Free article

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 et al. Stem Cell Res. 2023 Mar.
Free article

Abstract

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.

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Conflict of interest statement

Declaration of Competing Interest The authors declare the following financial interests/personal relationships which may be considered as potential competing interests: Jessica Rosati reports financial support was provided by Ministry of Health.

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