ID   WG2147
AC   CVCL_B3UH
DR   Wikidata; Q110434088
RX   CelloPub=CLPUB00662;
CC   From: Montreal Children's Hospital cell repository; Montreal; Canada.
CC   Sequence variation: Mutation; HGNC; HGNC:19331; MMAB; Simple; p.Val188_Ala192dup (c.563_577dupTGTGCCGCCGGGCCG); ClinVar=VCV000203822; Zygosity=Homozygous (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; C142172; Methylmalonic aciduria, cblB type
DI   ORDO; Orphanet_79311; Vitamin B12-responsive methylmalonic acidemia type cblB
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
CA   Finite cell line
DT   Created: 16-12-21; Last updated: 19-12-24; Version: 5
//
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.
//