ID   PSHi002-A
AC   CVCL_A8ZG
SY   PSH-TCS-iPSC
DR   hPSCreg; PSHi002-A
DR   Wikidata; Q108821172
RX   PubMed=34247110;
CC   From: Plastic Surgery Hospital of Chinese Academy of Medical Sciences; Beijing; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 11654; TCOF1; Simple; p.Ser657Trpfs*25 (c.1966_1969dup); Zygosity=Heterozygous (PubMed=34247110).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C75018; Treacher Collins syndrome
DI   ORDO; Orphanet_861; Treacher-Collins syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   33Y
CA   Induced pluripotent stem cell
DT   Created: 23-09-21; Last updated: 29-06-23; Version: 4
//
RX   PubMed=34247110; DOI=10.1016/j.scr.2021.102437;
RA   Zhang Z.-Y., Si N., Pan B., Jiang H.-Y.;
RT   "Generation of a human induced pluripotent stem cell line (PSHi002-A)
RT   from a Treacher-Collins syndrome patient carrying a TCOF1 gene
RT   mutation (c.1966_1969dup).";
RL   Stem Cell Res. 55:102437-102437(2021).
//