ID   HPIi001-B
AC   CVCL_A5FB
SY   iPS-6303-R12
DR   BioSamples; SAMEA114562355
DR   hPSCreg; HPIi001-B
DR   Wikidata; Q107115358
RX   PubMed=33740643;
CC   From: Harry Perkins Institute of Medical Research, University of Western Australia; Nedlands; Australia.
CC   Population: Turkish.
CC   Sequence variation: Mutation; HGNC; HGNC:129; ACTA1; Simple; p.Arg185Ser (c.553C>A); ClinVar=VCV000420099; Zygosity=Heterozygous (PubMed=33740643).
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_A5FA ! HPIi001-A
SX   Female
AG   4M
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 19-12-24; Version: 6
//
RX   PubMed=33740643; DOI=10.1016/j.scr.2021.102273;
RA   Clayton, Joshua S.
RA   Scriba, Carolin K.
RA   Romero, Norma Beatriz
RA   Malfatti, Edoardo
RA   Saker, Safaa
RA   Larmonier, Thierry
RA   Nowak, Kristen J.
RA   Ravenscroft, Gianina
RA   Laing, Nigel G.
RA   Taylor, Rhonda L.
RT   "Generation of two isogenic induced pluripotent stem cell lines from a
RT   4-month-old severe nemaline myopathy patient with a heterozygous
RT   dominant c.553C > A (p.Arg183Ser) variant in the ACTA1 gene.";
RL   Stem Cell Res. 53:102273-102273(2021).
//