ID   WG3630
AC   CVCL_B4GI
DR   Wikidata; Q110434360
RX   CelloPub=CLPUB00670;
RX   PubMed=23141461;
CC   From: Montreal Children's Hospital cell repository; Montreal; Canada.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 68; ABCD4; Simple; p.Asn141Lys (c.423C>G); ClinVar=VCV001343599; Zygosity=Homozygous (PubMed=23141461).
CC   Sequence variation: Mutation; HGNC; 7436; MTHFR; Simple; p.Ala222Val (c.665C>T) (C677T); ClinVar=VCV000003520; Zygosity=Homozygous (PubMed=23141461).
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   Male
AG   8Y
CA   Finite cell line
DT   Created: 16-12-21; Last updated: 29-06-23; Version: 5
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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=23141461; DOI=10.1016/j.ymgme.2012.10.005;
RA   Kim J.C., Lee N.-C., Hwu P.W.-L., Chien Y.-H., Fahiminiya S.,
RA   Majewski J., Watkins D., Rosenblatt D.S.;
RT   "Late onset of symptoms in an atypical patient with the cblJ inborn
RT   error of vitamin B12 metabolism: diagnosis and novel mutation revealed
RT   by exome sequencing.";
RL   Mol. Genet. Metab. 107:664-668(2012).
//