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Cellosaurus PCIi031-A (CVCL_A8DH)

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Cell line name PCIi031-A
Synonyms PC079
Accession CVCL_A8DH
Resource Identification Initiative To cite this cell line use: PCIi031-A (RRID:CVCL_A8DH)
Comments From: Phenocell SAS; Grasse; France.
Population: Caucasian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:8617; PAX3; Simple; c.-70_85+366del; Zygosity=Heterozygous (PubMed=36989619).
Disease Waardenburg syndrome type 1 (NCIt: C75008)
Waardenburg syndrome (ORDO: Orphanet_3440)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 37Y
Category Induced pluripotent stem cell
Publications

PubMed=36989619; DOI=10.1016/j.scr.2023.103074; PMCID=PMC10240564
Mansour Alkobtawi, Patrick Pla, Brigitte Onteniente, Subham Seal, Veronique Pingault, Sandrine Marlin, Anne H. Monsoro-Burq;
Two induced pluripotent stem cell (iPSC) lines derived from patients affected by Waardenburg syndrome type 1 retain potential to activate neural crest markers.
Stem Cell Res. 69:103074-103074(2023)

Cross-references
Cell line databases/resources hPSCreg; PCIi031-A
Biological sample resources BioSamples; SAMEA8944202
Encyclopedic resources Wikidata; Q107116654
Entry history
Entry creation20-May-2021
Last entry update19-Dec-2024
Version number6