ID   WG2625
AC   CVCL_B3YU
DR   Wikidata; Q110434165
RX   PubMed=31462756;
CC   From: Montreal Children's Hospital cell repository; Montreal; Canada.
CC   Sequence variation: Mutation; HGNC; HGNC:2548; CUBN; Simple; p.Ser3329Leu (c.9986C>T); ClinVar=VCV000532212; Zygosity=Heterozygous (PubMed=31462756).
CC   Sequence variation: Mutation; HGNC; HGNC:8653; PCCA; Simple; p.Glu584Ter (c.1749_1750delGGinsTT); Zygosity=Heterozygous (PubMed=31462756).
CC   Sequence variation: Mutation; HGNC; HGNC:8653; PCCA; Unexplicit; Ex21 intragenic 9-kb duplication; Zygosity=Heterozygous (PubMed=31462756).
CC   Omics: Genomics; Whole genome sequencing.
CC   Omics: Transcriptomics; RNAseq.
CC   Donor information: Established from a patient which had elevated level of methylmalonic acid thus was originally diagnosed as suffering from methylmalonic acidemia.
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; C85030; Propionic acidemia
DI   ORDO; Orphanet_35; Propionic acidemia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   8M
CA   Finite cell line
DT   Created: 16-12-21; Last updated: 10-04-25; Version: 7
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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).
//