Cell line name |
WG2319 |
Accession |
CVCL_B4D5 |
Resource Identification Initiative |
To cite this cell line use: WG2319 (RRID:CVCL_B4D5) |
Comments |
From: Montreal Children's Hospital cell repository; Montreal; Canada. Population: Caucasian; Irish/Italian. 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:11449; SUCLG1; Simple; p.Glu145Lys (c.433G>A); Zygosity=Heterozygous (CelloPub=CLPUB00669; PubMed=27233228).
- Mutation; HGNC; HGNC:11449; SUCLG1; Simple; p.Asn171His (c.511A>C); Zygosity=Heterozygous (CelloPub=CLPUB00669; PubMed=27233228).
|
Disease |
Mitochondrial DNA depletion syndrome-9 (NCIt: C183531) Fatal infantile lactic acidosis with methylmalonic aciduria (ORDO: Orphanet_17) |
Species of origin |
Homo sapiens (Human)
(NCBI Taxonomy: 9606) |
Age at sampling |
3W |
Category |
Finite cell line |
Publications | PubMed=16281286; DOI=10.1002/humu.20258 Lisa C. Worgan, Kirsten Niles, Jamie C. Tirone, Adam Hofmann, Andrei Verner, Alya'a Sammak, Terrence Kucic, Pierre Lepage, David S. Rosenblatt; Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype. Hum. Mutat. 27:31-43(2006) PubMed=27233228; DOI=10.1016/j.ymgme.2016.05.014 Jordan Chu, Mihaela Pupavac, David Watkins, Xia Tian, Yan-Ming Feng, Stella Chen, Remington Fenter, Victor W. Zhang, Jing Wang, Lee-Jun Wong, David S. Rosenblatt; Next generation sequencing of patients with mut methylmalonic aciduria: validation of somatic cell studies and identification of 16 novel mutations. Mol. Genet. Metab. 118:264-271(2016) CLPUB00669 Jordan Chu; Investigation of patients diagnosed with mut methylmalonic aciduria. Thesis MSc (2017); McGill University Montreal; Montreal; Canada |
Cross-references |
Encyclopedic resources |
Wikidata; Q110434108
|
Entry history |
Entry creation | 16-Dec-2021 |
Last entry update | 19-Dec-2024 |
Version number | 5 |
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