ID   IUFi004-A-1
AC   CVCL_D6ML
SY   DU323
DR   BioSamples; SAMEA114577674
DR   hPSCreg; IUFi004-A-1
DR   Wikidata; Q127382394
RX   PubMed=38217996;
CC   From: Leibniz Research Institute for Environmental Medicine; Dusseldorf; Germany.
CC   Sequence variation: Mutation; HGNC; 132; ACTB; Simple_edited; p.Glu214Ter (c.640G>T); Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=38217996).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): PubMed=38217996
ST   Amelogenin: X
ST   CSF1PO: 11,12
ST   D12S391: 21,22
ST   D13S317: 10
ST   D16S539: 9
ST   D18S51: 14,15
ST   D19S433: 15
ST   D1S1656: 13,17.3
ST   D21S11: 28,29
ST   D2S1338: 17,19
ST   D3S1358: 16
ST   D5S818: 10,12
ST   D6S1043: 12
ST   D7S820: 11
ST   D8S1179: 13,15
ST   FGA: 21,23
ST   Penta D: 2.2,13
ST   Penta E: 7,10
ST   TH01: 9,9.3
ST   TPOX: 8,9
ST   vWA: 16,18
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_C7XH ! iPS12-10
SX   Female
AG   64Y
CA   Induced pluripotent stem cell
DT   Created: 02-05-24; Last updated: 10-09-24; Version: 2
//
RX   PubMed=38217996; DOI=10.1016/j.scr.2024.103304;
RA   Binder S., Ramachandran H., Hildebrandt B., Dobner J., Rossi A.;
RT   "Prime-editing of human ACTB in induced pluripotent stem cells to
RT   model human ACTB loss-of-function diseases and compensatory
RT   mechanisms.";
RL   Stem Cell Res. 75:103304-103304(2024).
//