ID   WG1481
AC   CVCL_B3WK
DR   Wikidata; Q110434035
RX   CelloPub=CLPUB00668;
CC   From: Montreal Children's Hospital cell repository; Montreal; Canada.
CC   Sequence variation: Mutation; HGNC; 24525; MMACHC; Simple; p.Arg91Lysfs*14 (c.271dupA); ClinVar=VCV000001421; Zygosity=Heterozygous (CelloPub=CLPUB00668).
CC   Sequence variation: Mutation; HGNC; 24525; MMACHC; Simple; p.Arg132Ter (c.394C>T); ClinVar=VCV000001423; Zygosity=Heterozygous (CelloPub=CLPUB00668).
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; C142174; Methylmalonic aciduria and homocystinuria, cblC type
DI   ORDO; Orphanet_79282; Methylmalonic acidemia with homocystinuria, type cblC
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
CA   Finite cell line
DT   Created: 16-12-21; Last updated: 29-06-23; Version: 4
//
RX   CelloPub=CLPUB00668;
RA   Anastasio N.;
RT   "Allelic expression of MMACHC and evidence for genotype-phenotype
RT   correlations in cblC disease.";
RL   Thesis MSc (2010); McGill University Montreal; Montreal; Canada.
//