ID   LCPHi002-A
AC   CVCL_B5G5
DR   BioSamples; SAMEA10558482
DR   hPSCreg; LCPHi002-A
DR   Wikidata; Q110433003
RX   PubMed=35093716;
CC   From: The Institute for Tissue Engineering and Regenerative Medicine, Liaocheng People's Hospital; Liaocheng; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 1908; VPS13A; Simple; p.Ala1428fs (c.4282_4289delinsA); Zygosity=Heterozygous (PubMed=35093716).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C26845; Parkinson's disease
DI   ORDO; Orphanet_2828; Young-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   33Y
CA   Induced pluripotent stem cell
DT   Created: 16-12-21; Last updated: 29-06-23; Version: 4
//
RX   PubMed=35093716; DOI=10.1016/j.scr.2022.102685;
RA   Lu X.-J., Wang W., Liu Y.-M., Song N., Li M.-P., Mu X., Zhang N.,
RA   Chen Q.-F., Jiang L.-C., Kong X.-L., Sun P., Tong J.-B., Zhang Y.-P.,
RA   Li J.-T., Ma S.-J., Han F.-B.;
RT   "Establishment and characterization of human induced pluripotent stem
RT   cell line from a Parkinson's disease patient harboring VPS13A gene
RT   mutation.";
RL   Stem Cell Res. 60:102685-102685(2022).
//