ID   WG4190
AC   CVCL_B3ZD
DR   Wikidata; Q110434407
RX   PubMed=31462756;
CC   From: Montreal Children's Hospital cell repository; Montreal; Canada.
CC   Sequence variation: Mutation; HGNC; HGNC:11529; EPCAM; Simple; p.Gln167Profs*21 (c.499dupC); ClinVar=VCV000012774; Zygosity=Homozygous (PubMed=31462756).
CC   Omics: Genomics; Whole genome sequencing.
CC   Omics: Transcriptomics; RNAseq.
CC   Miscellaneous: Cell line no longer available.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C183530; Diarrhea 5, with tufting enteropathy, congenital
DI   NCIt; C98986; Methylmalonic acidemia
DI   ORDO; Orphanet_92050; Congenital tufting enteropathy
DI   ORDO; Orphanet_293355; Methylmalonic acidemia without homocystinuria
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   4M
CA   Finite cell line
DT   Created: 16-12-21; Last updated: 10-04-25; Version: 6
//
RX   PubMed=31462756; DOI=10.1038/s41436-019-0640-9;
RA   Abdrabo L.S., Watkins D., Wang S.R., Lafond-Lapalme J., Riviere J.-B.,
RA   Rosenblatt D.S.;
RT   "Genome and RNA sequencing in patients with methylmalonic aciduria of
RT   unknown cause.";
RL   Genet. Med. 22:432-436(2020).
//