ID   WG4152
AC   CVCL_B4K6
SY   WG-4152
DR   Wikidata; Q110434404
RX   PubMed=29302025;
CC   From: Montreal Children's Hospital cell repository; Montreal; Canada.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C142174; Methylmalonic aciduria and homocystinuria, cblC type
DI   ORDO; Orphanet_79282; Methylmalonic acidemia with homocystinuria, type cblC
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   59Y
CA   Finite cell line
DT   Created: 16-12-21; Last updated: 29-06-23; Version: 4
//
RX   PubMed=29302025; DOI=10.1038/s41467-017-02306-5; PMCID=PMC5754367;
RA   Gueant, Jean-Louis
RA   Chery, Celine
RA   Oussalah, Abderrahim
RA   Nadaf, Javad
RA   Coelho, David
RA   Josse, Thomas
RA   Flayac, Justine
RA   Robert, Aurelie
RA   Koscinski, Isabelle
RA   Gastin, Isabelle
RA   Filhine-Tresarrieu, Pierre
RA   Pupavac, Mihaela
RA   Brebner, Alison
RA   Watkins, David
RA   Pastinen, Tomi
RA   Montpetit, Alexandre
RA   Hariri, Fadi
RA   Tregouet, David-Alexandre
RA   Raby, Benjamin A.
RA   Chung, Wendy Kay
RA   Morange, Pierre-Emmanuel
RA   Froese, D. Sean
RA   Baumgartner, Matthias R.
RA   Benoist, Jean-Francois
RA   Ficicioglu, Can
RA   Marchand, Virginie
RA   Motorin, Yuri
RA   Bonnemains, Chrystele
RA   Feillet, Francois
RA   Majewski, Jacek
RA   Rosenblatt, David S.
RT   "A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC
RT   patients.";
RL   Nat. Commun. 9:67.1-67.12(2018).
//