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 Casamassa A., Rotundo G., Ceresoni C., Turco E.M., Torrente I., Candido O., Nicita F., Tonduti D., Bertini E., Marano M., Ferrari D., Cereda C., Pennuto M., Vescovi A.L., Carelli S., Rosati J.D. 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