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: Genomics; Whole exome sequencing. 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 Jaeseung C. Kim; 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 Jaeseung C. Kim, Ni-Chung Lee, Paul Wuh-Liang Hwu, Yin-Hsiu Chien, Somayyeh Fahiminiya, Jacek Majewski, David Watkins, David S. Rosenblatt; 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	10-Apr-2025
Version number	7