Cellosaurus cell line WG3630 (CVCL

Cellosaurus WG3630 (CVCL_B4GI)

Cross-references
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; HGNC:68; ABCD4; Simple; p.Asn141Lys (c.423C>G); ClinVar=VCV001343599; Zygosity=Homozygous (PubMed=23141461). Mutation; HGNC; 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)
Encyclopedic resources	Wikidata; Q110434360
Entry history
Entry creation	16-Dec-2021
Last entry update	19-Dec-2024
Version number	6