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Cellosaurus PCIi029-A (CVCL_A8DF)

[Text version]
Cell line name PCIi029-A
Synonyms PC076
Accession CVCL_A8DF
Resource Identification Initiative To cite this cell line use: PCIi029-A (RRID:CVCL_A8DF)
Comments From: Phenocell SAS; Grasse; France.
Population: Caucasian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; 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 Male
Age at sampling 8Y
Category Induced pluripotent stem cell

PubMed=36989619; DOI=10.1016/j.scr.2023.103074
Alkobtawi M., Pla P., Onteniente B., Seal S., Pingault V., Marlin S., Monsoro-Burq A.H.
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)

Cell line databases/resources hPSCreg; PCIi029-A
Biological sample resources BioSamples; SAMEA8944194
Encyclopedic resources Wikidata; Q107116652
Entry history
Entry creation20-May-2021
Last entry update05-Oct-2023
Version number5