ID   WG2664
AC   CVCL_B3UL
DR   Wikidata; Q110434176
RX   CelloPub=CLPUB00662;
CC   From: Montreal Children's Hospital cell repository; Montreal; Canada.
CC   Sequence variation: Mutation; HGNC; 18871; MMAA; Simple; p.Arg145Ter (c.433C>T); ClinVar=VCV000003160; Zygosity=Heterozygous (CelloPub=CLPUB00662).
CC   Sequence variation: Mutation; HGNC; 18871; MMAA; Simple; p.Thr198Serfs*6 (c.593_596delCTGA) (c.592_595del); ClinVar=VCV000203815; Zygosity=Heterozygous (CelloPub=CLPUB00662).
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; C142171; Methylmalonic aciduria, cblA type
DI   ORDO; Orphanet_79310; Vitamin B12-responsive methylmalonic acidemia type cblA
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=CLPUB00662;
RA   Yamani L.;
RT   "Studies on transcobalamin in cultured fibroblasts from patients with
RT   inborn errors of cobalamin metabolism.";
RL   Thesis PhD (2008); McGill University Montreal; Montreal; Canada.
//