ID   WG3126
AC   CVCL_B4D7
DR   Wikidata; Q110434260
RX   CelloPub=CLPUB00669;
RX   PubMed=16281286;
RX   PubMed=27233228;
CC   From: Montreal Children's Hospital cell repository; Montreal; Canada.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:11450; SUCLG2; Simple; p.Arg91Ser (c.273A>T); Zygosity=Heterozygous (CelloPub=CLPUB00669; PubMed=27233228).
CC   Miscellaneous: Cell line no longer available.
CC   Miscellaneous: No MMUT mutations were detected.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C148366; Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
DI   ORDO; Orphanet_27; Vitamin B12-unresponsive methylmalonic acidemia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
AG   4M
CA   Finite cell line
DT   Created: 16-12-21; Last updated: 19-12-24; Version: 5
//
RX   CelloPub=CLPUB00669;
RA   Chu J.;
RT   "Investigation of patients diagnosed with mut methylmalonic aciduria.";
RL   Thesis MSc (2017); McGill University Montreal; Montreal; Canada.
//
RX   PubMed=16281286; DOI=10.1002/humu.20258;
RA   Worgan L.C., Niles K., Tirone J.C., Hofmann A., Verner A., Sammak A.,
RA   Kucic T., Lepage P., Rosenblatt D.S.;
RT   "Spectrum of mutations in mut methylmalonic acidemia and
RT   identification of a common Hispanic mutation and haplotype.";
RL   Hum. Mutat. 27:31-43(2006).
//
RX   PubMed=27233228; DOI=10.1016/j.ymgme.2016.05.014;
RA   Chu J., Pupavac M., Watkins D., Tian X., Feng Y.-M., Chen S., Fenter R.,
RA   Zhang V.W., Wang J., Wong L.-J., Rosenblatt D.S.;
RT   "Next generation sequencing of patients with mut methylmalonic
RT   aciduria: validation of somatic cell studies and identification of 16
RT   novel mutations.";
RL   Mol. Genet. Metab. 118:264-271(2016).
//