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Cellosaurus SFPHi001-A (CVCL_C9LX)

[Text version]
Cell line name SFPHi001-A
Synonyms GD09031
Accession CVCL_C9LX
Resource Identification Initiative To cite this cell line use: SFPHi001-A (RRID:CVCL_C9LX)
Comments From: Shanghai Fifth People's Hospital; Shanghai; China.
Population: Chinese; Han.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 775; SERPINC1; Simple; p.Arg79His (c.236G>A); ClinVar=VCV000018014; Zygosity=Heterozygous (PubMed=37385134).
Disease Antithrombin III deficiency (NCIt: C98815)
Hereditary thrombophilia due to congenital antithrombin deficiency (ORDO: Orphanet_82)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 45Y
Category Induced pluripotent stem cell
Publications

PubMed=37385134; DOI=10.1016/j.scr.2023.103150
Chen W.-J., Wang Y.-Y., Shen L.-W., Huang S.-W., Yang X.-L., Wu D.-H.
Human induced pluripotent stem cells derived from a patient with a mutation of SERPINC1 c.236G>A (p.R79H).
Stem Cell Res. 71:103150-103150(2023)

Cross-references
Cell line databases/resources hPSCreg; SFPHi001-A
Biological sample resources BioSamples; SAMEA113414143
Encyclopedic resources Wikidata; Q123033476
Entry history
Entry creation05-Oct-2023
Last entry update30-Jan-2024
Version number2