ID   WG4140
AC   CVCL_B4GK
DR   Wikidata; Q110434402
RX   CelloPub=CLPUB00670;
RX   PubMed=22922874;
CC   From: Montreal Children's Hospital cell repository; Montreal; Canada.
CC   Population: Caucasian; German.
CC   Sequence variation: Mutation; HGNC; 68; ABCD4; Simple; c.542+1G>T; ClinVar=VCV000280107; Zygosity=Heterozygous; Note=Splice donor mutation (CelloPub=CLPUB00670; PubMed=22922874).
CC   Sequence variation: Mutation; HGNC; 68; ABCD4; Simple; p.Gly486Cys (c.1456G>T); ClinVar=VCV000037322; Zygosity=Heterozygous (CelloPub=CLPUB00670; PubMed=22922874).
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; C183526; Methylmalonic aciduria and homocystinuria, cblJ type
DI   ORDO; Orphanet_369955; Methylmalonic acidemia with homocystinuria, type cblJ
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=CLPUB00670;
RA   Kim J.C.;
RT   "Novel inborn error of vitamin B12 metabolism caused by mutations in
RT   ABCD4.";
RL   Thesis MSc (2012); McGill University Montreal; Montreal; Canada.
//
RX   PubMed=22922874; DOI=10.1038/ng.2386;
RA   Coelho D., Kim J.C., Miousse I.R., Fung S., du Moulin M., Buers I.,
RA   Suormala T., Burda P., Frapolli M., Stucki M., Nurnberg P., Thiele H.,
RA   Robenek H., Hohne W., Longo N., Pasquali M., Mengel E., Watkins D.,
RA   Shoubridge E.A., Majewski J., Rosenblatt D.S., Fowler B., Rutsch F.,
RA   Baumgartner M.R.;
RT   "Mutations in ABCD4 cause a new inborn error of vitamin B12
RT   metabolism.";
RL   Nat. Genet. 44:1152-1155(2012).
//