ID   WG4066
AC   CVCL_B4GJ
DR   Wikidata; Q110434399
RX   CelloPub=CLPUB00670;
RX   PubMed=22922874;
CC   From: Montreal Children's Hospital cell repository; Montreal; Canada.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 68; ABCD4; Simple; p.Tyr319Cys (c.956A>G); ClinVar=VCV000037319; Zygosity=Heterozygous (CelloPub=CLPUB00670; PubMed=22922874).
CC   Sequence variation: Mutation; HGNC; 68; ABCD4; Simple; p.Glu583Leufs*9 (c.1746_1747insCT); ClinVar=VCV000037320; Zygosity=Heterozygous (CelloPub=CLPUB00670; PubMed=22922874).
CC   Sequence variation: Mutation; HGNC; 6694; LRP2; Simple; p.Arg1311His (c.3932G>A); ClinVar=VCV000893877; Zygosity=Heterozygous (CelloPub=CLPUB00670; PubMed=22922874).
CC   Sequence variation: Mutation; HGNC; 6694; LRP2; Simple; p.Arg3646His (c.10937G>A); ClinVar=VCV000074222; Zygosity=Heterozygous (CelloPub=CLPUB00670; PubMed=22922874).
CC   Sequence variation: Mutation; HGNC; 24759; TPRG1; Simple; p.Ser141Ile (c.422G>T); Zygosity=Heterozygous (CelloPub=CLPUB00670; PubMed=22922874).
CC   Sequence variation: Mutation; HGNC; 24759; TPRG1; Simple; p.Tyr61Ter (c.183_192del); Zygosity=Heterozygous (CelloPub=CLPUB00670; PubMed=22922874).
CC   Omics: Deep exome analysis.
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   Female
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).
//