ID   WG1437
AC   CVCL_B4EN
DR   Wikidata; Q110434033
RX   PubMed=2339678;
RX   PubMed=18385497;
RX   PubMed=19058814;
CC   From: Montreal Children's Hospital cell repository; Montreal; Canada.
CC   Population: Caribbean; Haitian.
CC   Sequence variation: Mutation; HGNC; HGNC:25221; MMADHC; Simple; p.Arg54Ter (c.160C>T); ClinVar=VCV000000765; Zygosity=Heterozygous (PubMed=18385497).
CC   Sequence variation: Mutation; HGNC; HGNC:25221; MMADHC; Simple; p.Leu103_Ser108dup (c.307_324dup); ClinVar=VCV000000766; Zygosity=Heterozygous (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=2339678; DOI=10.1002/ajh.2830340207;
RA   Cooper B.A., Rosenblatt D.S., Watkins D.;
RT   "Methylmalonic aciduria due to a new defect in adenosylcobalamin
RT   accumulation by cells.";
RL   Am. J. Hematol. 34:115-120(1990).
//
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).
//
RX   PubMed=19058814; DOI=10.1016/j.jpeds.2008.10.043;
RA   Miousse I.R., Watkins D., Coelho D., Rupar T., Crombez E.A.,
RA   Vilain E., Bernstein J.A., Cowan T., Lee-Messer C., Enns G.M.,
RA   Fowler B., Rosenblatt D.S.;
RT   "Clinical and molecular heterogeneity in patients with the cblD inborn
RT   error of cobalamin metabolism.";
RL   J. Pediatr. 154:551-556(2009).
//