ID   LCPHi001-A
AC   CVCL_A0SU
DR   BioSamples; SAMEA9406020
DR   hPSCreg; LCPHi001-A
DR   Wikidata; Q108820766
RX   PubMed=34464855;
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; 4177; GBA1; Simple; p.Leu483Pro (c.1448T>C) (L444P); ClinVar=VCV000004288; Zygosity=Heterozygous (PubMed=34464855).
CC   Sequence variation: Mutation; HGNC; 4177; GBA1; Simple; p.Ala495Pro (c.1483G>C) (A456P); ClinVar=VCV000093450; Zygosity=Heterozygous (PubMed=34464855).
CC   Sequence variation: Mutation; HGNC; 4177; GBA1; Simple; p.Val499Val (c.1497G>C) (V460V); ClinVar=VCV000093451; Zygosity=Heterozygous (PubMed=34464855).
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_411602; Hereditary late-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   46Y
CA   Induced pluripotent stem cell
DT   Created: 23-09-21; Last updated: 29-06-23; Version: 5
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RX   PubMed=34464855; DOI=10.1016/j.scr.2021.102514;
RA   Lu X.-J., Song N., Wang W., Liu Y.-M., Song H., Xu L., Wang Y.,
RA   Wei C.-F., Chen J.-L., Yang X.-F., Han F.-B.;
RT   "Generation of integration-free human iPSC line LCPHi001-A from a
RT   Parkinson's disease patient carrying the RecNciI mutation in GBA
RT   gene.";
RL   Stem Cell Res. 56:102514-102514(2021).
//