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Cellosaurus KIK4 (CVCL_UZ96)

[Text version]
Cell line name KIK4
Accession CVCL_UZ96
Resource Identification Initiative To cite this cell line use: KIK4 (RRID:CVCL_UZ96)
Comments Population: Japanese.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; 6547; LDLR; Simple; c.1845+2T>C; ClinVar=VCV000252070; Zygosity=Homozygous; Note=Splice donor mutation (JCRB=JCRB1725).
Disease Hyperlipoproteinemia, type IIa (NCIt: C123416)
Homozygous familial hypercholesterolemia (ORDO: Orphanet_391665)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 4Y
Category Finite cell line
STR profile Source(s): JCRB

Markers:
AmelogeninX
CSF1PO12
D5S81810,12
D7S82010,11
D13S31711
D16S53912,13
TH016,9
TPOX12
vWA17,18

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Publications

PubMed=7588706; DOI=10.1111/j.1432-1033.1995.0700a.x
Maruyama T., Miyake Y., Tajima S., Funahashi T., Matsuzawa Y., Yamamoto A.
A single point mutation in the splice donor site of the low-density-lipoprotein-receptor gene produces intron read-through, exon-skipped and cryptic-site-utilized transcripts.
Eur. J. Biochem. 232:700-705(1995)

Cross-references
Cell line collections (Providers) JCRB; JCRB1725
Encyclopedic resources Wikidata; Q94339450
Entry history
Entry creation25-Feb-2019
Last entry update29-Jun-2023
Version number8