ID   KOLF2.2J
AC   CVCL_F4CV
RX   PubMed=39939790;
WW   Provider; JAX; JIPSC003902; https://www.jax.org/jax-mice-and-services/ipsc/cells-collection/JIPSC003902
CC   Part of: Molecular Phenotypes of Null Alleles in Cells (MorPhiC) consortium collection.
CC   Part of: Scalable and Systematic Neurobiology of Psychiatric and Neurodevelopmental Disorder Risk Genes (SSPsyGene) consortium collection.
CC   From: The Jackson Laboratory; Bar Harbor; USA.
CC   Population: Caucasian; British.
CC   Sequence variation: Mutation; HGNC; 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; HGNC:2201; COL3A1; Simple_corrected; c.3526-1G>A; Zygosity=Heterozygous; Note=Splice acceptor mutation; Note=By CRISPR/Cas9 (PubMed=39939790).
CC   Sequence variation: Mutation; HGNC; HGNC:2201; COL3A1; Simple_corrected; p.Gly1176Ser (c.3526G>A); Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=39939790).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C214868; Susceptibility to multiple system atrophy-1
DI   ORDO; Orphanet_102; Multiple system atrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_B5P3 ! KOLF2.1J
SX   Male
AG   55-59Y
CA   Induced pluripotent stem cell
DT   Created: 25-06-26; Last updated: 25-06-26; Version: 1
//
RX   PubMed=39939790; DOI=10.1038/s41586-024-08243-w; PMCID=PMC12088665;
RA   Adli, Mazhar
RA   Przybyla, Laralynne
RA   Burdett, Anthony
RA   Burridge, Paul Weisley
RA   Cacheiro, Pilar
RA   Chang, Howard Yuan-Hao
RA   Engreitz, Jesse Michael
RA   Gilbert, Luke A.
RA   Greenleaf, William James
RA   Hsu, Li
RA   Huangfu, Dan-Wei
RA   Hung, Ling-Hong
RA   Kundaje, Anshul
RA   Li, Sheng
RA   Parkinson, Helen E.
RA   Qiu, Xiao-Jie
RA   Robson, Paul
RA   Schurer, Stephan C.
RA   Shojaie, Ali
RA   Skarnes, William C.
RA   Smedley, Damian
RA   Studer, Lorenz P.
RA   Sun, Wei
RA   Vidovic, Dusica
RA   Vierbuchen, Thomas
RA   White, Brian S.
RA   Yeung, Ka Yee
RA   Yue, Feng
RA   Zhou, Ting
RG   MorPhiC Consortium;
RT   "MorPhiC Consortium: towards functional characterization of all human
RT   genes.";
RL   Nature 638:351-359(2025).
//