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Cellosaurus SKLRMi001-A (CVCL_YT43)

[Text version]
Cell line name SKLRMi001-A
Accession CVCL_YT43
Resource Identification Initiative To cite this cell line use: SKLRMi001-A (RRID:CVCL_YT43)
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; 644; AR; Simple; p.Val904Met (c.2710G>A); ClinVar=VCV002138590; Zygosity=Hemizygous (PubMed=32505105).
Disease Partial androgen insensitivity syndrome (NCIt: C120192)
Partial androgen insensitivity syndrome (ORDO: Orphanet_90797)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_D0LQ (SKLRMi001-A-1)
Sex of cell Male
Age at sampling 33Y
Category Induced pluripotent stem cell
Publications

PubMed=32505105; DOI=10.1016/j.scr.2020.101863
Chen J.-Q., Yang X.-Y., Fu B.-F., Zhu P.-M., Zhu Y.-F., Guo X.-J., Sha J.-H., Yuan Y.
Generation of human induced pluripotent stem cell (SKLRMi001-A) from a patient with partial androgen insensitivity syndrome (PAIS).
Stem Cell Res. 46:101863-101863(2020)

Cross-references
Cell line databases/resources hPSCreg; SKLRMi001-A
SKIP; SKIP005783
Biological sample resources BioSamples; SAMEA6649903
Encyclopedic resources Wikidata; Q98132682
Entry history
Entry creation12-Mar-2020
Last entry update05-Oct-2023
Version number8