ID   WG1903
AC   CVCL_B4GW
DR   Wikidata; Q110434072
RX   CelloPub=CLPUB00671;
RX   PubMed=19136951;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 23038; LMBRD1; Simple; p.Asn353Ilefs*18 (c.1056delG) (L352fsX18); ClinVar=VCV000225048; Zygosity=Homozygous (CelloPub=CLPUB00671; PubMed=19136951).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C183525; Methylmalonic aciduria and homocystinuria, cblF type
DI   ORDO; Orphanet_79284; Methylmalonic acidemia with homocystinuria type cblF
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   Children
CA   Finite cell line
DT   Created: 16-12-21; Last updated: 29-06-23; Version: 4
//
RX   CelloPub=CLPUB00671;
RA   Miousse I.R.;
RT   "Investigations into the early steps of cobalamin metabolism.";
RL   Thesis PhD (2011); McGill University Montreal; Montreal; Canada.
//
RX   PubMed=19136951; DOI=10.1038/ng.294;
RA   Rutsch F., Gailus S., Miousse I.R., Suormala T., Sagne C.,
RA   Toliat M.R., Nurnberg G., Wittkampf T., Buers I., Sharifi A.,
RA   Stucki M., Becker C., Baumgartner M.R., Robenek H., Marquardt T.,
RA   Hohne W., Gasnier B., Rosenblatt D.S., Fowler B., Nurnberg P.;
RT   "Identification of a putative lysosomal cobalamin exporter altered in
RT   the cblF defect of vitamin B12 metabolism.";
RL   Nat. Genet. 41:234-239(2009).
//