ID   YUSEVi005-A-1
SY   AMN 5 corrected; SCHI001-A-1
DR   BioSamples; SAMEA10454450
DR   hPSCreg; SCHI001-A-1
DR   Wikidata; Q112930590
RX   PubMed=35042083;
CC   From: Yonsei University College of Medicine; Seoul; South Korea.
CC   Population: Korean.
CC   Sequence variation: Mutation; HGNC; 61; ABCD1; Simple_corrected; p.Gly512Ser (c.1534G>A); ClinVar=VCV000585301; Zygosity=Hemizygous; Note=By CRISPR/Cas9 (PubMed=35042083).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C61252; Adrenoleukodystrophy
DI   ORDO; Orphanet_139396; X-linked cerebral adrenoleukodystrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_QY96 ! YUSEVi005-A
SX   Male
AG   34Y
CA   Induced pluripotent stem cell
DT   Created: 23-06-22; Last updated: 29-06-23; Version: 4
RX   PubMed=35042083; DOI=10.1016/j.scr.2022.102664;
RA   Jung E.S., Kim J.H., Chang M.-Y., Hong W.-J., Quan Z.-J., Kim S.H.,
RA   You S., Kim D.-S., Jang J., Lee S.-H., Kim H.H., Kang H.-C.;
RT   "Generation of mutation-corrected induced pluripotent stem cell lines
RT   derived from adrenoleukodystrophy patient by using homology directed
RT   repair.";
RL   Stem Cell Res. 59:102664-102664(2022).