ID   UKEi001-A-1
AC   CVCL_C9HF
SY   CRYABhom
DR   BioSamples; SAMEA112647719
DR   hPSCreg; UKEi001-A-1
DR   Wikidata; Q123033710
RX   PubMed=37633027;
CC   From: University Medical Center Hamburg-Eppendorf; Hamburg; Germany.
CC   Sequence variation: Mutation; HGNC; HGNC:2389; CRYAB; Simple_edited; p.Arg120Gly (c.358A>G); ClinVar=VCV000016953; Zygosity=Homozygous; Note=By CRISPR/Cas9 (PubMed=37633027).
CC   Sequence variation: Mutation; HGNC; HGNC:2389; CRYAB; Simple_edited; p.Arg120Arg (c.360G>A); Zygosity=Homozygous; Note=By CRISPR/Cas9 (PubMed=37633027).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C206516; Myofibrillar myopathy 2
DI   ORDO; Orphanet_399058; Alpha-B crystallin-related late-onset myopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_A8PR ! UKEi001-A
SX   Female
AG   60-64Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 19-12-24; Version: 4
//
RX   PubMed=37633027; DOI=10.1016/j.scr.2023.103188;
RA   Pietsch N., Cheng J.-C., Fazio A., Ewald L., Alizoti E., Kramer E.,
RA   Orthey E., Carrier L., Singh S.R.;
RT   "Generation of a homozygous CRYAB p.Arg120Gly mutant (UKEi001-A-1)
RT   from a human iPSC line.";
RL   Stem Cell Res. 71:103188-103188(2023).
//