ID   MCRIi024-A-1
AC   CVCL_A0LH
SY   ACTA1.Bbc
DR   hPSCreg; MCRIi024-A-1
DR   Wikidata; Q108820867
RX   PubMed=34157503;
CC   From: Murdoch Children's Research Institute; Melbourne; Australia.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 129; ACTA1; Simple_corrected; p.Gly148Asp (c.443G>A); Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=34157503).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C129870; Nemaline myopathy 3
DI   ORDO; Orphanet_171436; Typical nemaline myopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_A0LG ! MCRIi024-A
SX   Male
AG   5Y
CA   Induced pluripotent stem cell
DT   Created: 23-09-21; Last updated: 29-06-23; Version: 4
//
RX   PubMed=34157503; DOI=10.1016/j.scr.2021.102429;
RA   Houweling P.J., Coles C.A., Tiong C.F., Nielsen B., Graham A.,
RA   McDonald P., Suter A., Piers A.T., Forbes R., Ryan M.M., Howden S.E.,
RA   Lamande S.R., North K.N.;
RT   "Generating an iPSC line (with isogenic control) from the PBMCs of an
RT   ACTA1 (p.Gly148Asp) nemaline myopathy patient.";
RL   Stem Cell Res. 54:102429-102429(2021).
//