Cellosaurus cell line KAS01 #2 (CVCL

Cross-references
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; 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; PMCID=PMC3605623 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)
Encyclopedic resources	Wikidata; Q54899508
Entry history
Entry creation	03-Feb-2014
Last entry update	19-Dec-2024
Version number	11