Cellosaurus cell line HIHDNDi001-B (CVCL

Cross-references
Cell line name	HIHDNDi001-B
Synonyms	A30P-4; SNCA4; Tue_020_B
Accession	CVCL_YR03
Resource Identification Initiative	To cite this cell line use: HIHDNDi001-B (RRID:CVCL_YR03)
Comments	From: Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tubingen; Tubingen; Germany. Population: Caucasian. Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:11138; SNCA; Simple; p.Ala30Pro (c.88G>C); ClinVar=VCV000014008; Zygosity=Heterozygous (PubMed=32798915).
Disease	Parkinson disease 1, autosomal dominant (NCIt: C198602) Hereditary late-onset Parkinson disease (ORDO: Orphanet_411602)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual	CVCL_YR02 ! HIHDNDi001-A
Sex of cell	Male
Age at sampling	67Y
Category	Induced pluripotent stem cell
Publications	PubMed=32798915; DOI=10.1016/j.scr.2020.101951 Barbuti P.A., Santos B.F.R., Dording C.M., Cruciani G., Massart F., Hummel A., Kruger R. Generation of two iPS cell lines (HIHDNDi001-A and HIHDNDi001-B) from a Parkinson's disease patient carrying the heterozygous p.A30P mutation in SNCA. Stem Cell Res. 48:101951-101951(2020)
Cell line databases/resources	hPSCreg; HIHDNDi001-B
Biological sample resources	BioSamples; SAMEA6724116
Encyclopedic resources	Wikidata; Q94208320
Entry history
Entry creation	12-Mar-2020
Last entry update	19-Dec-2024
Version number	8