ID   A53T-1D
AC   CVCL_E3CA
RX   PubMed=35688132;
RX   PubMed=39079530;
CC   Population: Caucasian; Italian.
CC   Characteristics: Transposed with a piggyBac-rtTA(TRE4G)-NGN2-T2A-PuroR-IRES-SNAP-tag construct (PubMed=35688132).
CC   Sequence variation: Mutation; HGNC; HGNC:11138; SNCA; Simple; p.Ala53Thr (c.157G>A); ClinVar=VCV000014007; Zygosity=Heterozygous (PubMed=35688132).
CC   Genetic integration: Method=PiggyBac transposition; Gene=HGNC; HGNC:13805; NEUROG2.
CC   Genetic integration: Method=PiggyBac transposition; Gene=HGNC; HGNC:7059; MGMT (Note=With p.Gly180_Asn207del and 19 mutations = SNAP-tag).
CC   Genetic integration: Method=PiggyBac transposition; Gene=UniProtKB; Q9QNF7; Human herpesvirus 1 TK.
CC   Genetic integration: Method=PiggyBac transposition; Gene=UniProtKB; P33967; B.cereus Bsr.
CC   Genetic integration: Method=PiggyBac transposition; Gene=UniProtKB; P13249; S.alboniger pac (PuroR).
CC   Donor information: Established from a Contursi kindred patient.
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C198602; Parkinson disease 1, autosomal dominant
DI   ORDO; Orphanet_411602; Hereditary late-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_E3C7 ! A53T
SX   Female
AG   49Y
CA   Induced pluripotent stem cell
DT   Created: 10-09-24; Last updated: 19-12-24; Version: 2
//
RX   PubMed=35688132; DOI=10.1016/j.cell.2022.05.008; PMCID=PMC9394447;
RA   Hallacli E., Kayatekin C., Nazeen S., Wang X.-H., Sheinkopf Z.,
RA   Sathyakumar S., Sarkar S., Jiang X., Dong X.-J., Di Maio R., Wang W.,
RA   Keeney M.T., Felsky D., Sandoe J., Vahdatshoar A., Udeshi N.D., Mani D.R.,
RA   Carr S.A., Lindquist S.L., De Jager P.L., Bartel D.P., Myers C.L.,
RA   Greenamyre J.T., Feany M.B., Sunyaev S.R., Chung C.-Y., Khurana V.;
RT   "The Parkinson's disease protein alpha-synuclein is a modulator of
RT   processing bodies and mRNA stability.";
RL   Cell 185:2035-2056.e33(2022).
//
RX   PubMed=39079530; DOI=10.1016/j.neuron.2024.06.002; PMCID=PMC11377155;
RA   Lam I., Ndayisaba A., Lewis A.J., Fu Y.-H., Sagredo G.T., Kuzkina A.,
RA   Zaccagnini L., Celikag M., Sandoe J., Sanz R.L., Vahdatshoar A.,
RA   Martin T.D., Morshed N., Ichihashi T., Tripathi A., Ramalingam N.,
RA   Oettgen-Suazo C., Bartels T., Boussouf M., Schabinger M., Hallacli E.,
RA   Jiang X., Verma A., Tea C., Wang Z.-C., Hakozaki H., Yu X., Hyles K.,
RA   Park C., Wang X.-Y., Theunissen T.W., Wang H.-Y., Jaenisch R.,
RA   Lindquist S.L., Stevens B., Stefanova N., Wenning G.K., van de Berg W.D.J.,
RA   Luk K.C., Sanchez-Pernaute R., Gomez-Esteban J.C., Felsky D., Kiyota Y.,
RA   Sahni N., Yi S.S., Chung C.-Y., Stahlberg H., Ferrer I., Schoneberg J.,
RA   Elledge S.J., Dettmer U., Halliday G.M., Bartels T., Khurana V.;
RT   "Rapid iPSC inclusionopathy models shed light on formation,
RT   consequence, and molecular subtype of alpha-synuclein inclusions.";
RL   Neuron 112:2886-2909.e16(2024).
//