ID   KAS01 #2
AC   CVCL_T900
SY   KAS01-#2
DR   Wikidata; Q54899508
RX   PubMed=23364790;
CC   Sequence variation: Mutation; HGNC; HGNC:644; AR; Repeat_expansion; (CAG)47 (c.172_174CAG(10_36)); ClinVar=VCV000009818; Zygosity=Hemizygous (PubMed=23364790).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C85233; Spinal and bulbar muscular atrophy, X-linked 1
DI   ORDO; Orphanet_481; Kennedy disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_T901 ! KAS01 #3
SX   Male
AG   80Y
CA   Induced pluripotent stem cell
DT   Created: 03-02-14; Last updated: 19-12-24; Version: 11
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RX   PubMed=23364790; DOI=10.1074/jbc.M112.408211; PMCID=PMC3605623;
RA   Nihei Y., Ito D., Okada Y., Akamatsu W., Yagi T., Yoshizaki T.,
RA   Okano H., Suzuki N.;
RT   "Enhanced aggregation of androgen receptor in induced pluripotent stem
RT   cell-derived neurons from spinal and bulbar muscular atrophy.";
RL   J. Biol. Chem. 288:8043-8052(2013).
//