ID   HPIi003-A
AC   CVCL_C0ZE
SY   iPS-7247-C5
DR   hPSCreg; HPIi003-A
DR   Wikidata; Q114311635
RX   PubMed=35728439;
CC   From: Harry Perkins Institute of Medical Research, University of Western Australia; Nedlands; Australia.
CC   Population: Caucasian; French.
CC   Sequence variation: Mutation; HGNC; 129; ACTA1; Simple; p.Ala172Glu (c.515C>A); ClinVar=VCV000128261; Zygosity=Heterozygous (PubMed=35728439).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
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)
SX   Female
AG   3M
CA   Induced pluripotent stem cell
DT   Created: 22-09-22; Last updated: 29-06-23; Version: 4
//
RX   PubMed=35728439; DOI=10.1016/j.scr.2022.102829;
RA   Clayton J.S., Suleski I.S., Vo C., Smith R., Scriba C.K., Saker S.,
RA   Larmonier T., Malfatti E., Romero N.B., Houweling P.J., Nowak K.J.,
RA   Ravenscroft G., Laing N.G., Taylor R.L.;
RT   "Generation of an induced pluripotent stem cell line from a
RT   3-month-old nemaline myopathy patient with a heterozygous dominant
RT   c.515C > A (p.Ala172Glu) variant in the ACTA1 gene.";
RL   Stem Cell Res. 63:102829-102829(2022).
//