Cellosaurus cell line SBG1 (CVCL_C6UE)

Cellosaurus SBG1 (CVCL_C6UE)

Cell line name

SBG1

Accession

CVCL_C6UE

Resource Identification Initiative

To cite this cell line use: SBG1 (RRID:CVCL_C6UE)

Comments

Cell type: Fibroblast; CL=CL_0000057.

Sequence variations

Mutation; HGNC; HGNC:7414; MT-ATP6; Simple; p.Leu156Arg (m.8993T>G); ClinVar=VCV000009641; Zygosity=Heteroplasmic (PubMed=34200828).

Disease

Leigh disease (NCIt: C84814)
Leigh syndrome (ORDO: Orphanet_506)

Species of origin

Homo sapiens (Human) (NCBI Taxonomy: 9606)

Hierarchy

Children:

CVCL_C6UF (SBG1-iPSC)

Category

Finite cell line

Publications

PubMed=34200828; DOI=10.3390/ijms22126263; PMCID=PMC8230542
Ajibola B. Bakare, Julienne Daniel, Joshua Stabach, Anapaula Rojas, Austin Bell, Brooke Henry, Shilpa Iyer;
Quantifying mitochondrial dynamics in patient fibroblasts with multiple developmental defects and mitochondrial disorders.
Int. J. Mol. Sci. 22:6263.1-6263.26(2021)

Cross-references

Encyclopedic resources

Wikidata; Q117704834

Entry history

Entry creation

21-Mar-2023

Last entry update

19-Dec-2024

Version number

3