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Cellosaurus PSHi002-A (CVCL_A8ZG)

[Text version]
Cell line name PSHi002-A
Synonyms PSH-TCS-iPSC
Accession CVCL_A8ZG
Resource Identification Initiative To cite this cell line use: PSHi002-A (RRID:CVCL_A8ZG)
Comments From: Plastic Surgery Hospital of Chinese Academy of Medical Sciences; Beijing; China.
Population: Chinese; Han.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 11654; TCOF1; Simple; p.Ser657Trpfs*25 (c.1966_1969dup); Zygosity=Heterozygous (PubMed=34247110).
Disease Treacher Collins syndrome (NCIt: C75018)
Treacher-Collins syndrome (ORDO: Orphanet_861)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 33Y
Category Induced pluripotent stem cell
Publications

PubMed=34247110; DOI=10.1016/j.scr.2021.102437
Zhang Z.-Y., Si N., Pan B., Jiang H.-Y.
Generation of a human induced pluripotent stem cell line (PSHi002-A) from a Treacher-Collins syndrome patient carrying a TCOF1 gene mutation (c.1966_1969dup).
Stem Cell Res. 55:102437-102437(2021)

Cross-references
Cell line databases/resources hPSCreg; PSHi002-A
Encyclopedic resources Wikidata; Q108821172
Entry history
Entry creation23-Sep-2021
Last entry update29-Jun-2023
Version number4