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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.

Stem cell research - 1 Mar 2023

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

Abstract excerpt

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...

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Identifiers

PMID: 36638628
DOI: 10.1016/j.scr.2023.103023

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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