ID   WG4042
AC   CVCL_B4H0
DR   Wikidata; Q110434396
RX   CelloPub=CLPUB00671;
RX   PubMed=21303734;
CC   From: Montreal Children's Hospital cell repository; Montreal; Canada.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 23038; LMBRD1; Simple; p.Ala24_Lys82del (c.70-4298_246+2311del6785); Zygosity=Heterozygous (CelloPub=CLPUB00671; PubMed=21303734).
CC   Sequence variation: Mutation; HGNC; 23038; LMBRD1; Simple; p.Asn353Ilefs*18 (c.1056delG) (L352fsX18); ClinVar=VCV000225048; Zygosity=Heterozygous (CelloPub=CLPUB00671).
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   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=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).
//