ID   29d
AC   CVCL_9001
SY   29d-ALS; HVRDi009-B; HVRDi013-A
DR   hPSCreg; HVRDi009-B
DR   ISCR; 1633
DR   SKIP; SKIP004434
DR   Wikidata; Q54584275
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_9000 ! 29b
OI   CVCL_B522 ! 29c
OI   CVCL_9002 ! 29e
SX   Female
AG   82Y
CA   Induced pluripotent stem cell
DT   Created: 06-06-12; Last updated: 29-06-23; Version: 20
//
RX   PubMed=21293464; DOI=10.1038/nbt.1783;
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).
//