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Cellosaurus SDQLCHi064-A (CVCL_C9JP)

[Text version]
Cell line name SDQLCHi064-A
Accession CVCL_C9JP
Resource Identification Initiative To cite this cell line use: SDQLCHi064-A (RRID:CVCL_C9JP)
Comments From: Qilu Children's Hospital of Shandong University; Jinan; China.
Population: Chinese; Han.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:756; ASPA; Simple; p.Leu187Argfs*5 (c.556_559dupGTTC); Zygosity=Heterozygous (PubMed=38309148).
  • Mutation; HGNC; HGNC:756; ASPA; Simple; p.Ser307Valfs*24 (c.919delA); Zygosity=Heterozygous (PubMed=38309148).
Disease Canavan disease (NCIt: C84611)
Canavan disease (ORDO: Orphanet_141)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 5M
Category Induced pluripotent stem cell
Publications

PubMed=38309148; DOI=10.1016/j.scr.2024.103325
Liu N., Ge Y.-S., Yang Y.-N., Zhao F., Lv Y.-Q., Li Z.-L., Dong R., Liu Y., Gai Z.-T.
Human induced pluripotent stem cell line (SDQLCHi064-A) derived from a patient with Canavan disease carrying c.556_559dup GTTC and c.919delA mutations in the ASPA gene.
Stem Cell Res. 76:103325-103325(2024)

Cross-references
Cell line databases/resources hPSCreg; SDQLCHi064-A
Biological sample resources BioSamples; SAMEA115098521
Encyclopedic resources Wikidata; Q123033474
Entry history
Entry creation05-Oct-2023
Last entry update19-Dec-2024
Version number4