ID   HPIi004-A
AC   CVCL_C0ZF
SY   iPS-5964-R3
DR   hPSCreg; HPIi004-A
DR   Wikidata; Q114311636
RX   PubMed=35728440;
CC   From: Harry Perkins Institute of Medical Research, University of Western Australia; Nedlands; Australia.
CC   Population: Caucasian; Romani.
CC   Sequence variation: Mutation; HGNC; HGNC:129; ACTA1; Simple; p.Arg39Ter (c.121C>T); Zygosity=Homozygous (PubMed=35728440).
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)
OI   CVCL_C0ZG ! HPIi004-B
SX   Male
AG   1M
CA   Induced pluripotent stem cell
DT   Created: 22-09-22; Last updated: 19-12-24; Version: 5
//
RX   PubMed=35728440; DOI=10.1016/j.scr.2022.102830;
RA   Suleski, Isabella S.
RA   Smith, Robert
RA   Vo, Christina
RA   Scriba, Carolin K.
RA   Saker, Safaa
RA   Larmonier, Thierry
RA   Malfatti, Edoardo
RA   Romero, Norma Beatriz
RA   Houweling, Peter J.
RA   Nowak, Kristen J.
RA   Laing, Nigel G.
RA   Taylor, Rhonda L.
RA   Clayton, Joshua S.
RT   "Generation of two isogenic induced pluripotent stem cell lines from a
RT   1-month-old nemaline myopathy patient harbouring a homozygous
RT   recessive c.121C > T (p.Arg39Ter) variant in the ACTA1 gene.";
RL   Stem Cell Res. 63:102830-102830(2022).
//