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Cellosaurus WG3630 (CVCL_B4GI)

[Text version]
Cell line name WG3630
Accession CVCL_B4GI
Resource Identification Initiative To cite this cell line use: WG3630 (RRID:CVCL_B4GI)
Comments From: Montreal Children's Hospital cell repository; Montreal; Canada.
Population: Chinese; Han.
Omics: Deep exome analysis.
Miscellaneous: Cell line no longer available.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 68; ABCD4; Simple; p.Asn141Lys (c.423C>G); ClinVar=VCV001343599; Zygosity=Homozygous (PubMed=23141461).
  • Mutation; HGNC; 7436; MTHFR; Simple; p.Ala222Val (c.665C>T) (C677T); ClinVar=VCV000003520; Zygosity=Homozygous (PubMed=23141461).
Disease Methylmalonic aciduria and homocystinuria, cblJ type (NCIt: C183526)
Methylmalonic acidemia with homocystinuria, type cblJ (ORDO: Orphanet_369955)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 8Y
Category Finite cell line
Publications

CLPUB00670
Kim J.C.
Novel inborn error of vitamin B12 metabolism caused by mutations in ABCD4.
Thesis MSc (2012); McGill University Montreal; Montreal; Canada

PubMed=23141461; DOI=10.1016/j.ymgme.2012.10.005
Kim J.C., Lee N.-C., Hwu P.W.-L., Chien Y.-H., Fahiminiya S., Majewski J., Watkins D., Rosenblatt D.S.
Late onset of symptoms in an atypical patient with the cblJ inborn error of vitamin B12 metabolism: diagnosis and novel mutation revealed by exome sequencing.
Mol. Genet. Metab. 107:664-668(2012)

Cross-references
Encyclopedic resources Wikidata; Q110434360
Entry history
Entry creation16-Dec-2021
Last entry update29-Jun-2023
Version number5