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Cellosaurus YS2 (CVCL_LC45)

[Text version]
Cell line name YS2
Accession CVCL_LC45
Resource Identification Initiative To cite this cell line use: YS2 (RRID:CVCL_LC45)
Comments Population: Japanese.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 6547; LDLR; Simple; c.1845+2T>C; ClinVar=VCV000252070; Zygosity=Homozygous; Note=Splice donor mutation (JCRB=JCRB1727).
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 5Y
Category Finite cell line
STR profile Source(s): JCRB

Markers:
AmelogeninX
CSF1PO12
D5S81811,13
D7S82010,12
D13S3179
D16S5399,11
TH017
TPOX8,9
vWA18

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Publications

PubMed=3391611; DOI=10.1007/BF00280546
Funahashi T., Miyake Y., Yamamoto A., Matsuzawa Y., Kishino B.-i.
Mutations of the low density lipoprotein receptor in Japanese kindreds with familial hypercholesterolemia.
Hum. Genet. 79:103-108(1988)

Cross-references
Cell line collections (Providers) JCRB; JCRB1727
Encyclopedic resources Wikidata; Q54995517
Entry history
Entry creation22-Aug-2017
Last entry update29-Jun-2023
Version number10