| 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: 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. |
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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.Ser141Ile (c.422G>T); Zygosity=Heterozygous (CelloPub=CLPUB00670; PubMed=22922874).
- Mutation; HGNC; HGNC:24759; TPRG1; Simple; p.Tyr61Ter (c.183_192del); 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
Kim J.C.
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
Coelho D., Kim J.C., Miousse I.R., Fung S., du Moulin M., Buers I., Suormala T., Burda P., Frapolli M., Stucki M., Nurnberg P., Thiele H., Robenek H., Hohne W., Longo N., Pasquali M., Mengel E., Watkins D., Shoubridge E.A., Majewski J., Rosenblatt D.S., Fowler B., Rutsch F., Baumgartner M.R.
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 | 19-Dec-2024 |
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| Version number | 5 |
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