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Cellosaurus KAS01 #2 (CVCL_T900)

[Text version]
Cell line name KAS01 #2
Synonyms KAS01-#2
Accession CVCL_T900
Resource Identification Initiative To cite this cell line use: KAS01 #2 (RRID:CVCL_T900)
Comments Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 644; AR; Repeat_expansion; (CAG)47 (c.172_174CAG(10_36)); ClinVar=VCV000009818; Zygosity=Hemizygous (PubMed=23364790).
Disease Spinal and bulbar muscular atrophy, X-linked 1 (NCIt: C85233)
Kennedy disease (ORDO: Orphanet_481)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_T901 ! KAS01 #3
Sex of cell Male
Age at sampling 80Y
Category Induced pluripotent stem cell
Publications

PubMed=23364790; DOI=10.1074/jbc.M112.408211
Nihei Y., Ito D., Okada Y., Akamatsu W., Yagi T., Yoshizaki T., Okano H., Suzuki N.
Enhanced aggregation of androgen receptor in induced pluripotent stem cell-derived neurons from spinal and bulbar muscular atrophy.
J. Biol. Chem. 288:8043-8052(2013)

Cross-references
Encyclopedic resources Wikidata; Q54899508
Entry history
Entry creation03-Feb-2014
Last entry update29-Jun-2023
Version number10