ID   29c
AC   CVCL_B522
SY   A29c; 29c-ALS
DR   ISCR; 214
DR   SKIP; SKIP004435
DR   Wikidata; Q54584272
RX   PubMed=18669821;
CC   From: Harvard University; Boston; USA.
CC   Sequence variation: Mutation; HGNC; 11179; SOD1; Simple; p.Leu145Phe (c.435G>C) (L144F); ClinVar=VCV000586637; Zygosity=Unspecified (PubMed=18669821).
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)
OI   CVCL_8999 ! 29a
OI   CVCL_9000 ! 29b
OI   CVCL_9001 ! 29d
OI   CVCL_9002 ! 29e
SX   Female
AG   82Y
CA   Induced pluripotent stem cell
DT   Created: 06-06-12; Last updated: 29-06-23; Version: 16
//
RX   PubMed=18669821; DOI=10.1126/science.1158799;
RA   Dimos J.T., Rodolfa K.T., Niakan K.K., Weisenthal L.M., Mitsumoto H.,
RA   Chung W.K., Croft G.F., Saphier G., Leibel R.L., Goland R.S.,
RA   Wichterle H., Henderson C.E., Eggan K.C.;
RT   "Induced pluripotent stem cells generated from patients with ALS can
RT   be differentiated into motor neurons.";
RL   Science 321:1218-1221(2008).
//