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Cellosaurus MIPTi001-A (CVCL_D4WY)

[Text version]
Cell line name MIPTi001-A
Synonyms NAA
Accession CVCL_D4WY
Resource Identification Initiative To cite this cell line use: MIPTi001-A (RRID:CVCL_D4WY)
Comments From: Moscow Institute of Physics and Technology; Moscow; Russia.
Population: Caucasian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 61; ABCD1; Simple; p.Glu291Lys (c.871G>A); ClinVar=VCV000011292; Zygosity=Hemizygous (PubMed=38176367).
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 8Y
Category Induced pluripotent stem cell
Publications

PubMed=38176367; DOI=10.1016/j.scr.2023.103298
Gornostal E., Alsalloum A., Mityaeva O., Volchkov P.
Generation of induced pluripotent stem line (MIPTi001-A) derived from patient with X-linked adrenoleukodystrophy (X-ALD).
Stem Cell Res. 74:103298-103298(2024)

Cross-references
Cell line databases/resources hPSCreg; MIPTi001-A
Biological sample resources BioSamples; SAMEA114469822
Entry history
Entry creation30-Jan-2024
Last entry update30-Jan-2024
Version number1