Cellosaurus cell line CSSi018-A (CVCL

Cellosaurus CSSi018-A (CVCL_D6R4)

Cross-references
Cell line name	CSSi018-A
Synonyms	CSSi018-A (14192); 14192
Accession	CVCL_D6R4
Resource Identification Initiative	To cite this cell line use: CSSi018-A (RRID:CVCL_D6R4)
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:30074; POLR3A; Simple; p.Phe601Tyr (c.1802T>A); ClinVar=VCV001304432; Zygosity=Heterozygous (PubMed=38852424). Mutation; HGNC; HGNC:30074; POLR3A; Simple; p.Gly1358Arg (c.4072G>A); dbSNP=rs1404091496; Zygosity=Heterozygous (PubMed=38852424).
Disease	Hypomyelinating leukodystrophy-7 (NCIt: C210817) 4H leukodystrophy (ORDO: Orphanet_289494)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	10Y
Category	Induced pluripotent stem cell
Publications	PubMed=38852424; DOI=10.1016/j.scr.2024.103468 Alessia Casamassa, Giovannina Rotundo, Chiara Ceresoni, Elisa Maria Turco, Isabella Torrente, Ornella Candido, Francesco Nicita, Davide Tonduti, Enrico Bertini, Massimo Marano, Daniela Ferrari ...Show all 16 authors... , Cristina Cereda, Maria Pennuto, Angelo Luigi Vescovi, Stephana Carelli, Jessica Diana Rosati; Show fewer authors Production of an induced pluripotent stem cell line CSSi018-A (14192) from a patient with hypomyelinating leukodystrophy 7 (HLD7) carrying biallelic variants of POLR3A (c.1802 T > A; c.4072G > A). Stem Cell Res. 78:103468-103468(2024)
Cell line databases/resources	hPSCreg; CSSi018-A
Biological sample resources	BioSamples; SAMEA115577322
Entry history
Entry creation	10-Sep-2024
Last entry update	19-Dec-2024
Version number	2