ID   29e
AC   CVCL_9002
SY   29e-ALS; iPS29e; 29e SOD1 L144F; HVRDi009-A
DR   BioSamples; SAMEA13190950
DR   hPSCreg; HVRDi009-A
DR   ISCR; 1634
DR   SKIP; SKIP004433
DR   Wikidata; Q54584277
RX   PubMed=21293464;
RX   PubMed=21368825;
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   Omics: Deep exome analysis.
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_9001 ! 29d
SX   Female
AG   82Y
CA   Induced pluripotent stem cell
DT   Created: 06-06-12; Last updated: 02-05-24; Version: 21
//
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).
//
RX   PubMed=21368825; DOI=10.1038/nature09805;
RA   Gore A., Li Z., Fung H.-L., Young J.E., Agarwal S.,
RA   Antosiewicz-Bourget J., Canto I., Giorgetti A., Israel M.A.,
RA   Kiskinis E., Lee J.-H., Loh Y.-H., Manos P.D., Montserrat N.,
RA   Panopoulos A.D., Ruiz S., Wilbert M.L., Yu J.-Y., Kirkness E.F.,
RA   Izpisua Belmonte J.C., Rossi D.J., Thomson J.A., Eggan K.C., Daley G.Q.,
RA   Goldstein L.S.B., Zhang K.;
RT   "Somatic coding mutations in human induced pluripotent stem cells.";
RL   Nature 471:63-67(2011).
//