ID   WG3650
AC   CVCL_B4DD
DR   Wikidata; Q110434363
RX   CelloPub=CLPUB00669;
RX   PubMed=27233228;
CC   From: Montreal Children's Hospital cell repository; Montreal; Canada.
CC   Population: Korean.
CC   Sequence variation: Mutation; HGNC; HGNC:7526; MMUT; Simple; p.Arg31Ter (c.91C>T); ClinVar=VCV000092688; Zygosity=Heterozygous (CelloPub=CLPUB00669; PubMed=27233228).
CC   Sequence variation: Mutation; HGNC; HGNC:7526; MMUT; Simple; p.Glu117Ter (c.349G>T); ClinVar=VCV000001882; Zygosity=Heterozygous (CelloPub=CLPUB00669; PubMed=27233228).
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; 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   1Y9M
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=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).
//