ID   UOWi005-A
AC   CVCL_VF31
SY   CCNF; CCNF2; iPSC MB2-1
DR   hPSCreg; UOWi005-A
DR   Wikidata; Q54991430
RX   PubMed=31445393;
CC   From: University of Wollongong; Wollongong; Australia.
CC   Sequence variation: Mutation; HGNC; HGNC:1591; CCNF; Simple; p.Ser621Gly (c.1861A>G); ClinVar=VCV000992591; Zygosity=Unspecified (PubMed=31445393).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): PubMed=31445393
ST   Amelogenin: X,Y
ST   CSF1PO: 11,13
ST   D13S317: 9
ST   D16S539: 11,12
ST   D18S51: 17,19
ST   D19S433: 14
ST   D21S11: 28,32.2
ST   D2S1338: 23
ST   D3S1358: 14,16
ST   D5S818: 11,13
ST   D7S820: 8,13
ST   D8S1179: 13,15
ST   FGA: 19,20
ST   Penta D: 11,13
ST   Penta E: 7,10
ST   TH01: 6,8
ST   TPOX: 8,12
ST   vWA: 16,18
DI   NCIt; C34373; Amyotrophic lateral sclerosis
DI   ORDO; Orphanet_803; Amyotrophic lateral sclerosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   59Y
CA   Induced pluripotent stem cell
DT   Created: 14-05-18; Last updated: 19-12-24; Version: 10
//
RX   PubMed=31445393; DOI=10.1016/j.scr.2019.101530;
RA   Bax, Monique C.
RA   Balez, Rachelle
RA   Munoz, Sonia Sanz
RA   Do-Ha, Dzung
RA   Stevens, Claire H.
RA   Berg, Tracey
RA   Cabral-da-Silva, Mauricio Castro
RA   Engel, Martin
RA   Nicholson, Garth
RA   Yang, Shu
RA   Blair, Ian P.
RA   Ooi, Lezanne
RT   "Generation and characterization of a human induced pluripotent stem
RT   cell line UOWi005-A from dermal fibroblasts derived from a CCNF(S621G)
RT   familial amyotrophic lateral sclerosis patient using mRNA
RT   reprogramming.";
RL   Stem Cell Res. 40:101530-101530(2019).
//