ID   PCIi029-A
AC   CVCL_A8DF
SY   PC076
DR   BioSamples; SAMEA8944194
DR   hPSCreg; PCIi029-A
DR   Wikidata; Q107116652
RX   PubMed=36989619;
CC   From: Phenocell SAS; Grasse; France.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 8617; PAX3; Simple; c.-70_85+366del; Zygosity=Heterozygous (PubMed=36989619).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C75008; Waardenburg syndrome type 1
DI   ORDO; Orphanet_3440; Waardenburg syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   8Y
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 05-10-23; Version: 5
//
RX   PubMed=36989619; DOI=10.1016/j.scr.2023.103074;
RA   Alkobtawi M., Pla P., Onteniente B., Seal S., Pingault V., Marlin S.,
RA   Monsoro-Burq A.H.;
RT   "Two induced pluripotent stem cell (iPSC) lines derived from patients
RT   affected by Waardenburg syndrome type 1 retain potential to activate
RT   neural crest markers.";
RL   Stem Cell Res. 69:103074-103074(2023).
//