Cellosaurus cell line WG4190 (CVCL

Cross-references
Cell line name	WG4190
Accession	CVCL_B3ZD
Resource Identification Initiative	To cite this cell line use: WG4190 (RRID:CVCL_B3ZD)
Comments	From: Montreal Children's Hospital cell repository; Montreal; Canada. Omics: Genome sequenced. Omics: Transcriptome analysis by RNAseq. Miscellaneous: Cell line no longer available. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:11529; EPCAM; Simple; p.Gln167Profs*21 (c.499dupC); ClinVar=VCV000012774; Zygosity=Homozygous (PubMed=31462756).
Disease	Diarrhea 5, with tufting enteropathy, congenital (NCIt: C183530) Methylmalonic acidemia (NCIt: C98986) Congenital tufting enteropathy (ORDO: Orphanet_92050) Methylmalonic acidemia without homocystinuria (ORDO: Orphanet_293355)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	4M
Category	Finite cell line
Publications	PubMed=31462756; DOI=10.1038/s41436-019-0640-9 Abdrabo L.S., Watkins D., Wang S.R., Lafond-Lapalme J., Riviere J.-B., Rosenblatt D.S. Genome and RNA sequencing in patients with methylmalonic aciduria of unknown cause. Genet. Med. 22:432-436(2020)
Encyclopedic resources	Wikidata; Q110434407
Entry history
Entry creation	16-Dec-2021
Last entry update	19-Dec-2024
Version number	5