ID   NH50140
AC   CVCL_UW84
DR   NHCDR; NH50140
DR   Wikidata; Q98127564
CC   Population: Hispanic.
CC   Sequence variation: Mutation; HGNC; HGNC:11179; SOD1; Simple_corrected; p.His44Arg (c.131A>G) (H43R); ClinVar=VCV000014756; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (NHCDR=NH50140).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C168749; Amyotrophic lateral sclerosis 1
DI   ORDO; Orphanet_803; Amyotrophic lateral sclerosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_RY49 ! ND50068
SX   Female
AG   35Y
CA   Induced pluripotent stem cell
DT   Created: 25-02-19; Last updated: 19-12-24; Version: 10
//