ID   KOLF2.1J KCNA1 R417X SNV/SNV
AC   CVCL_E7LA
SY   JIPSC001444
WW   Provider; JAX; JIPSC001444; https://www.jax.org/jax-mice-and-services/ipsc/cells-collection/JIPSC001444
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; c.3526-1G>A; Zygosity=Heterozygous; Note=Splice acceptor mutation (from parent cell line).
CC   Sequence variation: Mutation; HGNC; HGNC:2201; COL3A1; Simple; p.Gly1176Ser (c.3526G>A); Zygosity=Heterozygous (from parent cell line).
CC   Sequence variation: Mutation; HGNC; HGNC:6218; KCNA1; Simple_edited; p.Arg417Ter (c.1249C>T); ClinVar=VCV000013491; Zygosity=Homozygous; Note=By CRISPR/Cas9 (JAX).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C214852; Episodic ataxia type 1
DI   ORDO; Orphanet_37612; Episodic ataxia type 1
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_B5P3 ! KOLF2.1J
SX   Male
AG   55-59Y
CA   Induced pluripotent stem cell
DT   Created: 10-04-25; Last updated: 10-04-25; Version: 1
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