| Cell line name |
WG1959 |
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| Accession |
CVCL_B4GY |
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| Resource Identification Initiative |
To cite this cell line use: WG1959 (RRID:CVCL_B4GY) |
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| Comments |
From: Montreal Children's Hospital cell repository; Montreal; Canada.
Population: Caucasian.
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:23038; LMBRD1; Simple; p.Lys281fs*4 (c.842_845delAGAG); Zygosity=Heterozygous (CelloPub=CLPUB00671; PubMed=19136951).
- Mutation; HGNC; HGNC:23038; LMBRD1; Simple; p.Asn353Ilefs*18 (c.1056delG) (L352fsX18); ClinVar=VCV000225048; Zygosity=Heterozygous (CelloPub=CLPUB00671; PubMed=19136951).
|
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| Disease |
Methylmalonic aciduria and homocystinuria, cblF type (NCIt: C183525)
Methylmalonic acidemia with homocystinuria type cblF (ORDO: Orphanet_79284) |
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| Species of origin |
Homo sapiens (Human)
(NCBI Taxonomy: 9606) |
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| Sex of cell |
Male |
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| Age at sampling |
Children |
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| Category |
Finite cell line |
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| Publications | PubMed=19136951; DOI=10.1038/ng.294
Frank Rutsch, Susann Gailus, Isabelle Racine Miousse, Terttu Suormala, Corinne Sagne, Mohammad Reza Toliat, Gudrun Nurnberg, Tanja Wittkampf, Insa Buers, Azita Sharifi, Martin Stucki ...Show all 20 authors... , Christian Becker, Matthias R. Baumgartner, Horst Robenek, Thorsten Marquardt, Wolfgang Hohne, Bruno Gasnier, David S. Rosenblatt, Brian Fowler, Peter Nurnberg; Show fewer authors
Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism.
Nat. Genet. 41:234-239(2009) CLPUB00671
Isabelle Racine Miousse;
Investigations into the early steps of cobalamin metabolism.
Thesis PhD (2011); McGill University Montreal; Montreal; Canada |
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| Cross-references |
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| Encyclopedic resources |
Wikidata; Q110434078
|
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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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