ID   ND50089
AC   CVCL_SA33
DR   NHCDR; ND50089
DR   Wikidata; Q54930317
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:644; AR; Repeat_expansion; (CAG)51 (c.172_174CAG(10_36)); ClinVar=VCV000009818; Zygosity=Hemizygous (NHCDR=ND50089).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
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)
SX   Male
AG   53Y
CA   Induced pluripotent stem cell
DT   Created: 14-05-18; Last updated: 19-12-24; Version: 10
//