ID   CHOPe003-A
AC   CVCL_C9EC
SY   H9-ACTG2-R257C; R257C #54 H9-hESC
DR   BioSamples; SAMEA114268384
DR   hPSCreg; CHOPe003-A
DR   Wikidata; Q123030926
RX   PubMed=37643495;
CC   From: Children's Hospital of Philadelphia; Philadelphia; USA.
CC   Sequence variation: Mutation; HGNC; 145; ACTG2; Simple_edited; p.Arg257Cys (c.769C>T); ClinVar=VCV000132803; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=37643495).
CC   Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358.
CC   Cell type: Embryonic stem cell; CL=CL_0002322.
DI   NCIt; C201588; Visceral myopathy 1
DI   ORDO; Orphanet_2604; Familial visceral myopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_9773 ! WA09
SX   Female
AG   Blastocyst stage
CA   Embryonic stem cell
DT   Created: 05-10-23; Last updated: 30-01-24; Version: 2
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RX   PubMed=37643495; DOI=10.1016/j.scr.2023.103186;
RA   Hashmi S.K., Schneider S., Gagne A.L., Maguire J.A., Anderson S.,
RA   Gadue P., Heuckeroth R.O., French D.L.;
RT   "Generation of CHOPe003-A ESC line to study an ACTG2 variant affecting
RT   smooth muscle development and function.";
RL   Stem Cell Res. 71:103186-103186(2023).
//