ID   WG3838
AC   CVCL_B4K5
SY   WG-3838
DR   Wikidata; Q110434387
RX   PubMed=29302025;
CC   From: Montreal Children's Hospital cell repository; Montreal; Canada.
CC   Population: Japanese and Korean.
CC   Sequence variation: Mutation; HGNC; HGNC:24525; MMACHC; Simple; p.Gln27Arg (c.80A>G); ClinVar=VCV000552467; Zygosity=Heterozygous (PubMed=29302025).
CC   Sequence variation: Mutation; HGNC; HGNC:9352; PRDX1; Simple; c.515-2A>T; ClinVar=VCV000495210; Zygosity=Heterozygous; Note=Splice acceptor mutation (PubMed=29302025).
CC   Miscellaneous: Cell line no longer available.
CC   Caution: The mutation indicated in PubMed=29302025 for MMACHC (c.81G>A) is incorrect. The correct mutation is c.80G>A (personal communication of Rosenblatt, David S.).
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   Female
AG   1-2M
CA   Finite cell line
DT   Created: 16-12-21; Last updated: 19-12-24; Version: 7
//
RX   PubMed=29302025; DOI=10.1038/s41467-017-02306-5; PMCID=PMC5754367;
RA   Gueant J.-L., Chery C., Oussalah A., Nadaf J., Coelho D., Josse T.,
RA   Flayac J., Robert A., Koscinski I., Gastin I., Filhine-Tresarrieu P.,
RA   Pupavac M., Brebner A., Watkins D., Pastinen T., Montpetit A.,
RA   Hariri F., Tregouet D.-A., Raby B.A., Chung W.K., Morange P.-E.,
RA   Froese D.S., Baumgartner M.R., Benoist J.-F., Ficicioglu C.,
RA   Marchand V., Motorin Y., Bonnemains C., Feillet F., Majewski J.,
RA   Rosenblatt D.S.;
RT   "A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC
RT   patients.";
RL   Nat. Commun. 9:67.1-67.12(2018).
//