ID   29b
AC   CVCL_9000
AS   CVCL_B521
SY   29B; A29b; 29b-ALS
DR   SKIP; SKIP004436
DR   Wikidata; Q54584271
RX   PubMed=18669821;
RX   PubMed=21293464;
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=21293464).
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_B522 ! 29c
OI   CVCL_9001 ! 29d
OI   CVCL_9002 ! 29e
SX   Female
AG   82Y
CA   Induced pluripotent stem cell
DT   Created: 06-06-12; Last updated: 10-09-24; Version: 19
//
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).
//
RX   PubMed=21293464; DOI=10.1038/nbt.1783; PMCID=PMC3229307;
RA   Boulting G.L., Kiskinis E., Croft G.F., Amoroso M.W., Oakley D.H.,
RA   Wainger B.J., Williams D.J., Kahler D.J., Yamaki M., Davidow L.S.,
RA   Rodolfa C.T., Dimos J.T., Mikkilineni S., MacDermott A.B., Woolf C.J.,
RA   Henderson C.E., Wichterle H., Eggan K.C.;
RT   "A functionally characterized test set of human induced pluripotent
RT   stem cells.";
RL   Nat. Biotechnol. 29:279-286(2011).
//