ID   WG3365
AC   CVCL_B3UM
DR   Wikidata; Q110434309
RX   CelloPub=CLPUB00662;
RX   CelloPub=CLPUB00670;
RX   CelloPub=CLPUB00671;
RX   PubMed=19136951;
RX   PubMed=21303734;
CC   From: Montreal Children's Hospital cell repository; Montreal; Canada.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 23038; LMBRD1; Simple; c.916-1G>T; Zygosity=Heterozygous; Note=Splice acceptor mutation (CelloPub=CLPUB00671; PubMed=21303734).
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=CLPUB00662;
RA   Yamani L.;
RT   "Studies on transcobalamin in cultured fibroblasts from patients with
RT   inborn errors of cobalamin metabolism.";
RL   Thesis PhD (2008); McGill University Montreal; Montreal; Canada.
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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.
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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.
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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).
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RX   PubMed=21303734; DOI=10.1016/j.ymgme.2011.01.002;
RA   Miousse I.R., Watkins D., Rosenblatt D.S.;
RT   "Novel splice site mutations and a large deletion in three patients
RT   with the cblF inborn error of vitamin B12 metabolism.";
RL   Mol. Genet. Metab. 102:505-507(2011).
//