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Cellosaurus SKLRMi001-A-1 (CVCL_D0LQ)

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Cell line name SKLRMi001-A-1
Synonyms AR repaired iPSCs
Accession CVCL_D0LQ
Resource Identification Initiative To cite this cell line use: SKLRMi001-A-1 (RRID:CVCL_D0LQ)
Comments From: State Key Laboratory of Reproductive Medicine, Nanjing Medical University; Nanjing; China.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:644; AR; Simple_corrected; p.Val904Met (c.2710G>A); ClinVar=VCV002138590; Zygosity=Hemizygous; Note=By CRISPR/Cas9 (PubMed=37148822).
Disease Partial androgen insensitivity syndrome (NCIt: C120192)
Partial androgen insensitivity syndrome (ORDO: Orphanet_90797)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_YT43 (SKLRMi001-A)
Sex of cell Male
Age at sampling 33Y
Category Induced pluripotent stem cell
Publications

PubMed=37148822; DOI=10.1016/j.scr.2023.103102
Rui-Qi Sun, Yi-Qiang Cui, Zhao-De Liu, Jia-Yin Guo, Xin Zhang, Pin-Mou Zhu, Jia-Hao Sha, Xiao-Yu Yang, Yan Yuan;
A prime editor efficiently repaired human induced pluripotent stem cells with AR gene mutation (c.2710G>A; p.V904M).
Stem Cell Res. 69:103102-103102(2023)

Cross-references
Cell line databases/resources hPSCreg; SKLRMi001-A-1
Biological sample resources BioSamples; SAMEA112648452
Encyclopedic resources Wikidata; Q123033516
Entry history
Entry creation05-Oct-2023
Last entry update19-Dec-2024
Version number3