ID   WG3086
AC   CVCL_B3Z4
DR   Wikidata; Q110434253
RX   PubMed=31462756;
CC   From: Montreal Children's Hospital cell repository; Montreal; Canada.
CC   Sequence variation: Mutation; HGNC; HGNC:2548; CUBN; Simple; p.Ser865Asn (c.2594G>A); ClinVar=VCV000265086; Zygosity=Heterozygous (PubMed=31462756).
CC   Sequence variation: Mutation; HGNC; HGNC:2548; CUBN; Simple; p.Asn2157Asp (c.6469A>G); ClinVar=VCV000695565; Zygosity=Heterozygous (PubMed=31462756).
CC   Omics: Genome sequenced.
CC   Omics: Transcriptome analysis by 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; C98986; Methylmalonic acidemia
DI   ORDO; Orphanet_293355; Methylmalonic acidemia without homocystinuria
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   9M
CA   Finite cell line
DT   Created: 16-12-21; Last updated: 19-12-24; Version: 5
//
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).
//