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Cellosaurus NCBSi003-A (CVCL_C1UV)

[Text version]
Cell line name NCBSi003-A
Synonyms Park14-R741Q-2022
Accession CVCL_C1UV
Resource Identification Initiative To cite this cell line use: NCBSi003-A (RRID:CVCL_C1UV)
Comments From: Tata Institute of Fundamental Research, National Centre for Biological Sciences; Bangalore; India.
Population: Indian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 9039; PLA2G6; Simple; p.Arg741Gln (c.2222G>A); ClinVar=VCV000006203; Zygosity=Homozygous (PubMed=36706537).
Disease Parkinson disease 14, autosomal recessive (NCIt: C201519)
Adult-onset dystonia-parkinsonism (ORDO: Orphanet_199351)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 21Y
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=36706537

Markers:
AmelogeninX,Y
CSF1PO10,11
D5S81810,13
D7S82010,11
D13S3178,9
D16S53911,13
D21S1129,31.2
TH019
TPOX8,9
vWA16,17

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Publications

PubMed=36706537; DOI=10.1016/j.scr.2023.103033
Gopurappilly R., Musthafa T., Sukumaran S., Viswanath B., Hasan G.
Generation of feeder-independent transgene-free iPSC lines from a young-onset Parkinson's disease (YOPD) patient with a homozygous PLA2G6: c.2222G>A (p. Arg741Gln) mutation (NCBSi003-A) and unaffected heterozygous parent (NCBSi004-A).
Stem Cell Res. 67:103033-103033(2023)

Cross-references
Cell line databases/resources hPSCreg; NCBSi003-A
Biological sample resources BioSamples; SAMEA112281646
Encyclopedic resources Wikidata; Q114312456
Entry history
Entry creation22-Sep-2022
Last entry update05-Oct-2023
Version number5