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Cellosaurus BIHi005-A-39 (CVCL_E3RN)

[Text version]
Cell line name BIHi005-A-39
Synonyms hiPSC M368A; M368A hiPSC; BIHi005-A-M2 (ATG>GCT) M2 Cholinergic Receptor
Accession CVCL_E3RN
Resource Identification Initiative To cite this cell line use: BIHi005-A-39 (RRID:CVCL_E3RN)
Comments From: Berlin Institute of Health; Berlin; Germany.
Population: Asian.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:1951; CHRM2; Simple_edited; p.Met368Ala (c.1102_1104ATG>GCT); Zygosity=Homozygous; Note=By CRISPR/Cas9 (PubMed=38683874).
Disease Alzheimer's disease (NCIt: C2866)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_IT56 (BIHi005-A)
Sex of cell Male
Age at sampling 25-29Y
Category Induced pluripotent stem cell
Publications

PubMed=38683874; DOI=10.1371/journal.pbio.3002582; PMCID=PMC11093360
Fasciani I., Petragnano F., Wang Z.-M., Edwards R., Telugu N.S., Pietrantoni I., Zabel U., Zauber H., Grieben M., Terzenidou M.-E., Di Gregorio J., Pellegrini C., Santini S. Jr., Taddei A.R., Pohl B., Aringhieri S., Carli M., Aloisi G., Marampon F., Charlesworth E., Roman A., Diecke S., Flati V., Giorgi F., Amicarelli F., Tobin A.B., Scarselli M., Tokatlidis K., Rossi M., Lohse M.J., Annibale P., Maggio R.
The C-terminus of the prototypical M2 muscarinic receptor localizes to the mitochondria and regulates cell respiration under stress conditions.
PLoS Biol. 22:e3002582.1-e3002582.36(2024)

Cross-references
Cell line databases/resources hPSCreg; BIHi005-A-39
Entry history
Entry creation19-Dec-2024
Last entry update19-Dec-2024
Version number1