ID   WG3377
AC   CVCL_B4F0
DR   Wikidata; Q110434315
RX   CelloPub=CLPUB00670;
RX   CelloPub=CLPUB00671;
RX   PubMed=19058814;
RX   PubMed=19136951;
CC   From: Montreal Children's Hospital cell repository; Montreal; Canada.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 23038; LMBRD1; Simple; p.Thr238Ter (c.712_713delAC) (T237X); Zygosity=Heterozygous (CelloPub=CLPUB00671; PubMed=19136951).
CC   Sequence variation: Mutation; HGNC; 23038; LMBRD1; Simple; p.Asn353Ilefs*18 (c.1056delG) (L352fsX18); ClinVar=VCV000225048; Zygosity=Heterozygous (CelloPub=CLPUB00671; PubMed=19136951).
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; 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
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RX   CelloPub=CLPUB00670;
RA   Kim J.C.;
RT   "Novel inborn error of vitamin B12 metabolism caused by mutations in
RT   ABCD4.";
RL   Thesis MSc (2012); McGill University Montreal; Montreal; Canada.
//
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=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).
//
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).
//