ID   KOLF2.1J
AC   CVCL_B5P3
SY   KOLF 2.1J; WTSIi018-B-12; JAXi019-A-12; JIPSC1000
DR   hPSCreg; WTSIi018-B-12
DR   Wikidata; Q117704576
RX   PubMed=36459969;
RX   PubMed=38518401;
WW   https://www.jax.org/jax-mice-and-services/ipsc/cells-collection
CC   From: The Jackson Laboratory; Bar Harbor; USA.
CC   Population: Caucasian; British.
CC   Sequence variation: Mutation; HGNC; 18037; ARID2; Simple_corrected; p.Pro197Hisfs*12 (c.590_608delCTAAAATCATCACTTTACT); Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=36459969).
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   Omics: Genome sequenced.
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_9S58 ! HPSI0114i-kolf_2-C1
SX   Male
AG   55-59Y
CA   Induced pluripotent stem cell
DT   Created: 21-03-23; Last updated: 10-09-24; Version: 4
//
RX   PubMed=36459969; DOI=10.1016/j.stem.2022.11.004; PMCID=PMC9782786;
RA   Pantazis C.B., Yang A., Lara E., McDonough J.A., Blauwendraat C.,
RA   Peng L.-R., Oguro H., Kanaujiya J., Zou J.-Z., Sebesta D., Pratt G.,
RA   Cross E., Blockwick J., Buxton P., Kinner-Bibeau L.B., Medura C.,
RA   Tompkins C., Hughes S., Santiana M., Faghri F., Nalls M.A., Vitale D.,
RA   Ballard S., Qi Y.A., Ramos D.M., Anderson K.M., Stadler J.,
RA   Narayan P., Papademetriou J., Reilly L., Nelson M.P., Aggarwal S.,
RA   Rosen L.U., Kirwan P., Pisupati V., Coon S.L., Scholz S.W., Priebe T.,
RA   Ottl M., Dong J., Meijer M., Janssen L.J.M., Lourenco V.S.,
RA   van der Kant R., Crusius D., Paquet D., Raulin A.-C., Bu G.-J., Held A.,
RA   Wainger B.J., Gabriele R.M.C., Casey J.M., Wray S., Abu-Bonsrah K.D.,
RA   Parish C.L., Beccari M.S., Cleveland D.W., Li E., Rose I.V.L.,
RA   Kampmann M., Calatayud Aristoy C., Verstreken P., Heinrich L.,
RA   Chen M.Y., Schule B., Dou D., Holzbaur E.L.F., Zanellati M.C.,
RA   Basundra R., Deshmukh M., Cohen S., Khanna R., Raman M., Nevin Z.S.,
RA   Matia M., Van Lent J., Timmerman V., Conklin B.R., Chase K.J.,
RA   Zhang K., Funes S., Bosco D.A., Erlebach L., Welzer M.,
RA   Kronenberg-Versteeg D., Lyu G.-C., Arenas E., Coccia E., Sarrafha L.,
RA   Ahfeldt T., Marioni J.C., Skarnes W.C., Cookson M.R., Ward M.E.,
RA   Merkle F.T.;
RT   "A reference human induced pluripotent stem cell line for large-scale
RT   collaborative studies.";
RL   Cell Stem Cell 29:1685-1702.e22(2022).
//
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).
//