Cellosaurus cell line CSSi015-A (CVCL

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 Rotundo G., Turco E.M., Ruotolo G., Torrente I., Candido O., Lopez G., Ferrari D., Caputi C., Mastrangelo M., Pisani F., Gelati M., Guarnieri V., Vescovi A.L., Rosati J.D. 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