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Cellosaurus YUSEVi005-A-1 (CVCL_C0EY)

[Text version]
Cell line name YUSEVi005-A-1
Synonyms AMN 5 corrected; SCHI001-A-1
Accession CVCL_C0EY
Resource Identification Initiative To cite this cell line use: YUSEVi005-A-1 (RRID:CVCL_C0EY)
Comments From: Yonsei University College of Medicine; Seoul; South Korea.
Population: Korean.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; 61; ABCD1; Simple_corrected; p.Gly512Ser (c.1534G>A); ClinVar=VCV000585301; Zygosity=Hemizygous; Note=By CRISPR/Cas9 (PubMed=35042083).
Disease Adrenoleukodystrophy (NCIt: C61252)
X-linked cerebral adrenoleukodystrophy (ORDO: Orphanet_139396)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_QY96 (YUSEVi005-A)
Sex of cell Male
Age at sampling 34Y
Category Induced pluripotent stem cell
Publications

PubMed=35042083; DOI=10.1016/j.scr.2022.102664
Jung E.S., Kim J.H., Chang M.-Y., Hong W.-J., Quan Z.-J., Kim S.H., You S., Kim D.-S., Jang J., Lee S.-H., Kim H.H., Kang C.H.
Generation of mutation-corrected induced pluripotent stem cell lines derived from adrenoleukodystrophy patient by using homology directed repair.
Stem Cell Res. 59:102664-102664(2022)

Cross-references
Cell line databases/resources hPSCreg; SCHI001-A-1
Biological sample resources BioSamples; SAMEA10454450
Encyclopedic resources Wikidata; Q112930590
Entry history
Entry creation23-Jun-2022
Last entry update29-Jun-2023
Version number4