Cellosaurus cell line CSSi016-A (CVCL

Cellosaurus CSSi016-A (CVCL_C3RC)

Cross-references
Cell line name	CSSi016-A
Synonyms	CSSi016-A (9938); 9938; PORA cl C
Accession	CVCL_C3RC
Resource Identification Initiative	To cite this cell line use: CSSi016-A (RRID:CVCL_C3RC)
Comments	From: Fondazione Casa Sollievo della Sofferenza IRCCS; San Giovanni Rotondo; Italy. Population: Caucasian; Italian. Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:10542; SBF1; Simple; p.Arg763His (c.2288G>A); ClinVar=VCV001065826; Zygosity=Heterozygous (PubMed=36272304). Mutation; HGNC; HGNC:10542; SBF1; Simple; p.Gly1064Glu (c.3191G>A); ClinVar=VCV001120019; Zygosity=Heterozygous (PubMed=36272304).
Disease	Charcot-Marie-Tooth disease type 4B3 (NCIt: C190871) Charcot-Marie-Tooth disease type 4B3 (ORDO: Orphanet_363981)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	12Y
Category	Induced pluripotent stem cell
Publications	PubMed=36272304; DOI=10.1016/j.scr.2022.102946 Turco E.M., Giovenale A.M.G., Rotundo G., Mazzoni M., Zanfardino P., Frezza K., Torrente I., Carletti R.M., Damiani D., Santorelli F.M., Vescovi A.L., Petruzzella V., Rosati J.D. Generation and characterization of CSSi016-A (9938) human pluripotent stem cell line carrying two biallelic variants in MTMR5/SBF1 gene resulting in a case of severe CMT4B3. Stem Cell Res. 65:102946-102946(2022)
Cell line databases/resources	hPSCreg; CSSi016-A
Biological sample resources	BioSamples; SAMEA111417866
Encyclopedic resources	Wikidata; Q116048805
Entry history
Entry creation	15-Dec-2022
Last entry update	19-Dec-2024
Version number	4