Cellosaurus cell line ICGi042-B (CVCL

Cross-references
Cell line name	ICGi042-B
Synonyms	PD12-5Lm
Accession	CVCL_C1TP
Resource Identification Initiative	To cite this cell line use: ICGi042-B (RRID:CVCL_C1TP)
Comments	From: The Federal Research Center Institute of Cytology and Genetics; Novosibirsk; Russia. Population: Caucasian. Omics: Deep exome analysis. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:18618; LRRK2; Simple; p.Glu334Lys (c.1000G>A); ClinVar=VCV000039128; Zygosity=Heterozygous (hPSCreg=ICGi042-B). Mutation; HGNC; HGNC:18618; LRRK2; Simple; p.Ile723Val (c.2167A>G); ClinVar=VCV000039146; Zygosity=Heterozygous (hPSCreg=ICGi042-B). Mutation; HGNC; HGNC:14581; PINK1; Simple; p.Asn521Thr (c.1562A>C); ClinVar=VCV000295006; Zygosity=Heterozygous (hPSCreg=ICGi042-B).
Disease	Parkinson disease 8, autosomal dominant (NCIt: C198605) Hereditary late-onset Parkinson disease (ORDO: Orphanet_411602)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual	CVCL_C1TN ! ICGi042-A CVCL_C1TQ ! ICGi042-C
Sex of cell	Male
Age at sampling	75-79Y
Category	Induced pluripotent stem cell
Cell line databases/resources	hPSCreg; ICGi042-B
Biological sample resources	BioSamples; SAMEA110644573
Encyclopedic resources	Wikidata; Q114311700
Entry history
Entry creation	22-Sep-2022
Last entry update	19-Dec-2024
Version number	5