| Cell line name |
WG4066 |
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| Accession |
CVCL_B4GJ |
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| Resource Identification Initiative |
To cite this cell line use: WG4066 (RRID:CVCL_B4GJ) |
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| Comments |
From: Montreal Children's Hospital cell repository; Montreal; Canada.
Population: Caucasian.
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. |
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| Sequence variations |
- Mutation; HGNC; HGNC:68; ABCD4; Simple; p.Tyr319Cys (c.956A>G); ClinVar=VCV000037319; Zygosity=Heterozygous (CelloPub=CLPUB00670; PubMed=22922874).
- Mutation; HGNC; HGNC:68; ABCD4; Simple; p.Glu583Leufs*9 (c.1746_1747insCT); ClinVar=VCV000037320; Zygosity=Heterozygous (CelloPub=CLPUB00670; PubMed=22922874).
- Mutation; HGNC; HGNC:6694; LRP2; Simple; p.Arg1311His (c.3932G>A); ClinVar=VCV000893877; Zygosity=Heterozygous (CelloPub=CLPUB00670; PubMed=22922874).
- Mutation; HGNC; HGNC:6694; LRP2; Simple; p.Arg3646His (c.10937G>A); ClinVar=VCV000074222; Zygosity=Heterozygous (CelloPub=CLPUB00670; PubMed=22922874).
- Mutation; HGNC; HGNC:24759; TPRG1; Simple; p.Tyr61Ter (c.183_192del); Zygosity=Heterozygous (CelloPub=CLPUB00670; PubMed=22922874).
- Mutation; HGNC; HGNC:24759; TPRG1; Simple; p.Ser141Ile (c.422G>T); Zygosity=Heterozygous (CelloPub=CLPUB00670; PubMed=22922874).
|
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| Disease |
Methylmalonic aciduria and homocystinuria, cblJ type (NCIt: C183526)
Methylmalonic acidemia with homocystinuria, type cblJ (ORDO: Orphanet_369955) |
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| Species of origin |
Homo sapiens (Human)
(NCBI Taxonomy: 9606) |
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| Sex of cell |
Female |
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| Age at sampling |
Children |
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| Category |
Finite cell line |
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| 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=22922874; DOI=10.1038/ng.2386
David Coelho, Jaeseung C. Kim, Isabelle Racine Miousse, Stephen Fung, Marcel du Moulin, Insa Buers, Terttu Suormala, Patricie Burda, Michele Frapolli, Martin Stucki, Peter Nurnberg ...Show all 24 authors... , Holger Thiele, Horst Robenek, Wolfgang Hohne, Nicola Longo, Marzia Pasquali, Eugen Mengel, David Watkins, Eric A. Shoubridge, Jacek Majewski, David S. Rosenblatt, Brian Fowler, Frank Rutsch, Matthias R. Baumgartner; Show fewer authors
Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism.
Nat. Genet. 44:1152-1155(2012) |
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| Cross-references |
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| Encyclopedic resources |
Wikidata; Q110434399
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| Entry history |
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| Entry creation | 16-Dec-2021 |
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| Last entry update | 10-Apr-2025 |
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| Version number | 6 |
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