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Cellosaurus YUSEVi005-A (CVCL_QY96)

[Text version]
Cell line name YUSEVi005-A
Synonyms AMN 5 iPSC; AMN 5; SCHI001-A
Accession CVCL_QY96
Resource Identification Initiative To cite this cell line use: YUSEVi005-A (RRID:CVCL_QY96)
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; p.Gly512Ser (c.1534G>A); ClinVar=VCV000585301; Zygosity=Hemizygous (PubMed=29065337).
Disease Adrenoleukodystrophy (NCIt: C61252)
X-linked cerebral adrenoleukodystrophy (ORDO: Orphanet_139396)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_C0EY (YUSEVi005-A-1)
Sex of cell Male
Age at sampling 34Y
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=29065337

Markers:
AmelogeninX,Y
CSF1PO11
D2S133822,23,24
D3S135815,17,18
D5S81811,13
D7S82011,12
D8S117913,15
D13S31710,12
D16S5399,11,12,13
D18S5112,13,15,18
D19S43314,15.2
D21S1128,29,31,32.2
FGA19,23
Penta D9
Penta E11,16,18,23
TH016,9
TPOX8,9,11
vWA14,16,17,20

Run an STR similarity search on this cell line
Publications

PubMed=29065337; DOI=10.1016/j.scr.2017.10.003
Son D., Quan Z.-J., Kang P.J., Park G., Kang H.-C., You S.
Generation of two induced pluripotent stem cell (iPSC) lines from X-linked adrenoleukodystrophy (X-ALD) patients with adrenomyeloneuropathy (AMN).
Stem Cell Res. 25:46-49(2017)

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 H.-C.
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
Biological sample resources BioSamples; SAMEA10405028
Encyclopedic resources Wikidata; Q54995797
Entry history
Entry creation05-Mar-2018
Last entry update29-Jun-2023
Version number10