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Cellosaurus XACHi006-A (CVCL_YM79)

[Text version]
Cell line name XACHi006-A
Accession CVCL_YM79
Resource Identification Initiative To cite this cell line use: XACHi006-A (RRID:CVCL_YM79)
Comments From: Children's Research Institute of Shaanxi province, Xi'an Key Laboratory of Children's Health and Diseases; Xi'an; China.
Population: Chinese; Han.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 4065; GAA; Simple; p.Arg608Ter (c.1822C>T); ClinVar=VCV000972803; Zygosity=Heterozygous (PubMed=36240644).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 30Y
Category Induced pluripotent stem cell
Publications

PubMed=36240644; DOI=10.1016/j.scr.2022.102934
Huang W.-J., Zhou Y.-F., Wang J., Jiang C.-S., Zhang Y.-M., Zhou R.
Generation of two heterozygous GAA mutation-carrying human induced pluripotent stem cell lines (XACHi005-A, XACHi006-A) from parents of an infant with Pompe disease.
Stem Cell Res. 64:102934-102934(2022)

Cross-references
Cell line databases/resources hPSCreg; XACHi006-A
Encyclopedic resources Wikidata; Q98135115
Entry history
Entry creation12-Mar-2020
Last entry update29-Jun-2023
Version number5