ID   BIHi005-A-39
AC   CVCL_E3RN
SY   hiPSC M368A; M368A hiPSC; BIHi005-A-M2 (ATG>GCT) M2 Cholinergic Receptor
DR   hPSCreg; BIHi005-A-39
RX   PubMed=38683874;
CC   From: Berlin Institute of Health; Berlin; Germany.
CC   Population: Asian.
CC   Sequence variation: Mutation; HGNC; HGNC:1951; CHRM2; Simple_edited; p.Met368Ala (c.1102_1104ATG>GCT); Zygosity=Homozygous; Note=By CRISPR/Cas9 (PubMed=38683874).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C2866; Alzheimer's disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_IT56 ! BIHi005-A
SX   Male
AG   25-29Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-24; Last updated: 19-12-24; Version: 1
//
RX   PubMed=38683874; DOI=10.1371/journal.pbio.3002582; PMCID=PMC11093360;
RA   Fasciani I., Petragnano F., Wang Z.-M., Edwards R., Telugu N.S.,
RA   Pietrantoni I., Zabel U., Zauber H., Grieben M., Terzenidou M.-E.,
RA   Di Gregorio J., Pellegrini C., Santini S. Jr., Taddei A.R., Pohl B.,
RA   Aringhieri S., Carli M., Aloisi G., Marampon F., Charlesworth E.,
RA   Roman A., Diecke S., Flati V., Giorgi F., Amicarelli F., Tobin A.B.,
RA   Scarselli M., Tokatlidis K., Rossi M., Lohse M.J., Annibale P.,
RA   Maggio R.;
RT   "The C-terminus of the prototypical M2 muscarinic receptor localizes
RT   to the mitochondria and regulates cell respiration under stress
RT   conditions.";
RL   PLoS Biol. 22:e3002582.1-e3002582.36(2024).
//