Cellosaurus cell line LCPHi001-A (CVCL

Cellosaurus LCPHi001-A (CVCL_A0SU)

Cross-references
Cell line name	LCPHi001-A
Accession	CVCL_A0SU
Resource Identification Initiative	To cite this cell line use: LCPHi001-A (RRID:CVCL_A0SU)
Comments	From: The Institute for Tissue Engineering and Regenerative Medicine, Liaocheng People's Hospital; Liaocheng; China. Population: Chinese; Han. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:4177; GBA1; Simple; p.Leu483Pro (c.1448T>C) (L444P); ClinVar=VCV000004288; Zygosity=Heterozygous (PubMed=34464855). Mutation; HGNC; HGNC:4177; GBA1; Simple; p.Ala495Pro (c.1483G>C) (A456P); ClinVar=VCV000093450; Zygosity=Heterozygous (PubMed=34464855). Mutation; HGNC; HGNC:4177; GBA1; Simple; p.Val499Val (c.1497G>C) (V460V); ClinVar=VCV000093451; Zygosity=Heterozygous (PubMed=34464855).
Disease	Parkinson's disease (NCIt: C26845) Hereditary late-onset Parkinson disease (ORDO: Orphanet_411602)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	46Y
Category	Induced pluripotent stem cell
Publications	PubMed=34464855; DOI=10.1016/j.scr.2021.102514 Lu X.-J., Song N., Wang W., Liu Y.-M., Song H., Xu L., Wang Y., Wei C.-F., Chen J.-L., Yang X.-F., Han F.-B. Generation of integration-free human iPSC line LCPHi001-A from a Parkinson's disease patient carrying the RecNciI mutation in GBA gene. Stem Cell Res. 56:102514-102514(2021)
Cell line databases/resources	hPSCreg; LCPHi001-A
Biological sample resources	BioSamples; SAMEA9406020
Encyclopedic resources	Wikidata; Q108820766
Entry history
Entry creation	23-Sep-2021
Last entry update	19-Dec-2024
Version number	6