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Cellosaurus CHOPe003-A (CVCL_C9EC)

[Text version]
Cell line name CHOPe003-A
Synonyms H9-ACTG2-R257C; R257C #54 H9-hESC
Accession CVCL_C9EC
Resource Identification Initiative To cite this cell line use: CHOPe003-A (RRID:CVCL_C9EC)
Comments From: Children's Hospital of Philadelphia; Philadelphia; USA.
Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358.
Cell type: Embryonic stem cell; CL=CL_0002322.
Sequence variations
  • Mutation; HGNC; 145; ACTG2; Simple_edited; p.Arg257Cys (c.769C>T); ClinVar=VCV000132803; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=37643495).
Disease Visceral myopathy 1 (NCIt: C201588)
Familial visceral myopathy (ORDO: Orphanet_2604)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_9773 (WA09)
Sex of cell Female
Age at sampling Blastocyst stage
Category Embryonic stem cell
Publications

PubMed=37643495; DOI=10.1016/j.scr.2023.103186
Hashmi S.K., Schneider S., Gagne A.L., Maguire J.A., Anderson S., Gadue P., Heuckeroth R.O., French D.L.
Generation of CHOPe003-A ESC line to study an ACTG2 variant affecting smooth muscle development and function.
Stem Cell Res. 71:103186-103186(2023)

Cross-references
Cell line databases/resources hPSCreg; CHOPe003-A
Biological sample resources BioSamples; SAMEA114268384
Encyclopedic resources Wikidata; Q123030926
Entry history
Entry creation05-Oct-2023
Last entry update30-Jan-2024
Version number2