ID   WG1220
AC   CVCL_B4EM
DR   Wikidata; Q110434025
RX   PubMed=18385497;
CC   From: Montreal Children's Hospital cell repository; Montreal; Canada.
CC   Population: Hispanic.
CC   Sequence variation: Mutation; HGNC; HGNC:25221; MMADHC; Simple; p.Arg250Ter (c.748C>T); ClinVar=VCV000000767; Zygosity=Homozygous (PubMed=18385497).
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; C183524; Methylmalonic aciduria and homocystinuria, cblD type
DI   ORDO; Orphanet_79283; Methylmalonic acidemia with homocystinuria, type cblD
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   Children
CA   Finite cell line
DT   Created: 16-12-21; Last updated: 19-12-24; Version: 5
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RX   PubMed=18385497; DOI=10.1056/NEJMoa072200;
RA   Coelho D., Suormala T., Stucki M., Lerner-Ellis J.P., Rosenblatt D.S.,
RA   Newbold R.F., Baumgartner M.R., Fowler B.;
RT   "Gene identification for the cblD defect of vitamin B12 metabolism.";
RL   N. Engl. J. Med. 358:1454-1464(2008).
//