ID   WG1173
AC   CVCL_B4GV
DR   Wikidata; Q110434020
RX   CelloPub=CLPUB00671;
RX   PubMed=19136951;
CC   From: Montreal Children's Hospital cell repository; Montreal; Canada.
CC   Population: Caucasian; French Canadian.
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)
OI   CVCL_B4GU ! WG1087
SX   Female
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).
//