ID   WG3280
AC   CVCL_B4EP
DR   Wikidata; Q110434291
RX   CelloPub=CLPUB00671;
RX   PubMed=19058814;
CC   From: Montreal Children's Hospital cell repository; Montreal; Canada.
CC   Population: Lebanese.
CC   Sequence variation: Mutation; HGNC; 25221; MMADHC; Simple; p.Leu21Ilefs*2 (c.60_61insAT); ClinVar=VCV000219001; Zygosity=Heterozygous (CelloPub=CLPUB00671; PubMed=19058814).
CC   Sequence variation: Mutation; HGNC; 25221; MMADHC; Simple; p.Cys153Metfs*10 (c.455dupC); ClinVar=VCV000219002; Zygosity=Heterozygous (CelloPub=CLPUB00671; PubMed=19058814).
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; C183524; Methylmalonic aciduria and homocystinuria, cblD type
DI   ORDO; Orphanet_79283; Methylmalonic acidemia with homocystinuria, type cblD
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=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).
//