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Cellosaurus YUSEVi006-A (CVCL_QY97)

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Cell line name YUSEVi006-A
Synonyms AMN 6 iPSC
Accession CVCL_QY97
Resource Identification Initiative To cite this cell line use: YUSEVi006-A (RRID:CVCL_QY97)
Comments From: Yonsei University College of Medicine; Seoul; South Korea.
Population: Korean.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:61; ABCD1; Simple; p.Ile657del (c.1970_1972delTCA) (c.1968_1970delCAT); ClinVar=VCV00125620; Zygosity=Hemizygous (PubMed=29065337).
Disease Adrenoleukodystrophy (NCIt: C61252)
X-linked cerebral adrenoleukodystrophy (ORDO: Orphanet_139396)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 43Y
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=29065337

Markers:
AmelogeninX,Y
CSF1PO11
D2S133823,24
D3S135817,18
D5S81811
D7S82012
D8S117915
D13S31710,12
D16S5399,13
D18S5113,15
D19S43314,15.2
D21S1128,29
FGA19,23
Penta D9
Penta E16,18
TH016,9
TPOX8,9
vWA16,17

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Publications

PubMed=29065337; DOI=10.1016/j.scr.2017.10.003
Daryeon Son, Zhe-Jiu Quan, Phil Jun Kang, Gyuman Park, Hoon-Chul Kang, Seungkwon You;
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)

Cross-references
Encyclopedic resources Wikidata; Q54995798
Entry history
Entry creation05-Mar-2018
Last entry update19-Dec-2024
Version number9