ID   WTSIi018-B-20
AC   CVCL_D6RI
SY   DU326; IUFi019-A-20
DR   BioSamples; SAMEA115295915
DR   hPSCreg; WTSIi018-B-20
RX   PubMed=38518401;
CC   From: Leibniz Research Institute for Environmental Medicine; Dusseldorf; Germany.
CC   Population: Caucasian; British.
CC   Knockout cell: Method=CRISPR/Cas9; HGNC; 132; ACTB.
CC   Sequence variation: Mutation; HGNC; 18037; ARID2; Simple_corrected; p.Pro197Hisfs*12 (c.590_608delCTAAAATCATCACTTTACT); Zygosity=Heterozygous; Note=By CRISPR/Cas9 (from parent cell line).
CC   Sequence variation: Mutation; HGNC; 2201; COL3A1; Simple; c.3526-1G>A; Zygosity=Heterozygous; Note=Splice acceptor mutation (from parent cell line).
CC   Sequence variation: Mutation; HGNC; 2201; COL3A1; Simple; p.Gly1176Ser (c.3526G>A); Zygosity=Heterozygous (from parent cell line).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): PubMed=38518401
ST   Amelogenin: X,Y
ST   CSF1PO: 11,12
ST   D12S391: 18,22
ST   D13S317: 9,10
ST   D16S539: 9,13
ST   D18S51: 12,17
ST   D19S433: 14,15
ST   D1S1656: 14,18.3
ST   D21S11: 31,32.2
ST   D2S1338: 17,19
ST   D3S1358: 16
ST   D5S818: 12,13
ST   D6S1043: 12,20
ST   D7S820: 9,11
ST   D8S1179: 11,14
ST   FGA: 21
ST   Penta D: 12,15
ST   Penta E: 10,12
ST   TH01: 6,9.3
ST   TPOX: 8,11
ST   vWA: 14
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_B5P3 ! KOLF2.1J
SX   Male
AG   55-59Y
CA   Induced pluripotent stem cell
DT   Created: 10-09-24; Last updated: 10-09-24; Version: 1
//
RX   PubMed=38518401; DOI=10.1016/j.scr.2024.103395;
RA   Binder S., Ramachandran H., Haslinger D., Hildebrandt B., Dobner J.,
RA   Haarmann-Stemmann T., Chiocchetti A.G., Rossi A.;
RT   "CRISPR/Cas9-mediated editing of ACTB in induced pluripotent stem
RT   cells: a model for investigating human ACTB loss-of-function and
RT   genetic adaptive responses.";
RL   Stem Cell Res. 77:103395-103395(2024).
//