Cellosaurus cell line CSSi015-A (CVCL

Cellosaurus CSSi015-A (CVCL_C1PC)

Cross-references
Cell line name	CSSi015-A
Synonyms	CSSi015-A (9553); 9553; FC17; FC 17 cl D1
Accession	CVCL_C1PC
Resource Identification Initiative	To cite this cell line use: CSSi015-A (RRID:CVCL_C1PC)
Comments	From: Fondazione Casa Sollievo della Sofferenza IRCCS; San Giovanni Rotondo; Italy. Population: Caucasian; Italian. Derived from site: In situ; Arm, skin, dermis; UBERON=UBERON_0002427+UBERON_0002067. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:1514; CASR; Simple; p.Thr972Met (c.2915C>T); ClinVar=VCV000342802; Zygosity=Heterozygous (PubMed=36638628).
Disease	Familial hypocalciuric hypercalcemia (NCIt: C123262) Familial hypocalciuric hypercalcemia (ORDO: Orphanet_405)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	38Y
Category	Induced pluripotent stem cell
Publications	PubMed=36638628; DOI=10.1016/j.scr.2023.103023 Giovannina Rotundo, Elisa Maria Turco, Giorgia Ruotolo, Isabella Torrente, Ornella Candido, Gianluca Lopez, Daniela Ferrari, Caterina Caputi, Mario Mastrangelo, Francesco Pisani, Maurizio Gelati ...Show all 14 authors... , Vito Guarnieri, Angelo Luigi Vescovi, Jessica Diana Rosati; Show fewer authors 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 Res. 67:103023-103023(2023)
Cell line databases/resources	hPSCreg; CSSi015-A
Biological sample resources	BioSamples; SAMEA110061803
Encyclopedic resources	Wikidata; Q114311287
Entry history
Entry creation	22-Sep-2022
Last entry update	19-Dec-2024
Version number	5