ID   ND50072
AC   CVCL_RY51
DR   NHCDR; ND50072
DR   Wikidata; Q54930294
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 11117; SMN1; Unexplicit; Ex7-8del; Zygosity=Homozygous (NHCDR=ND50072).
CC   Derived from site: In situ; Eye, ocular lens; UBERON=UBERON_0000965.
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C98670; Werdnig-Hoffmann disease
DI   ORDO; Orphanet_83330; Proximal spinal muscular atrophy type 1
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_W562 ! GM09677
SX   Male
AG   1Y11M
CA   Induced pluripotent stem cell
DT   Created: 14-05-18; Last updated: 30-01-24; Version: 11
//