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Cellosaurus RS53 (CVCL_JG59)

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Cell line name RS53
Accession CVCL_JG59
Resource Identification Initiative To cite this cell line use: RS53 (RRID:CVCL_JG59)
Comments Population: Japanese.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:6547; LDLR; Simple; c.68-1G>C; ClinVar=VCV000251005; Zygosity=Heterozygous; Note=Splice acceptor mutation (PubMed=10200052).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling Adult
Category Finite cell line
STR profile Source(s): JCRB=JCRB1712

Markers:
AmelogeninX
CSF1PO11,12
D5S81810,11
D7S82010,11
D13S31712,14
D16S53911
TH017,9
TPOX8,11
vWA14

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Publications

PubMed=10200052; DOI=10.1002/(SICI)1098-1004(1998)11:6<480::AID-HUMU11>3.0.CO;2-W
Takao Maruyama, Yasuko Miyake, Taku Yamamura, Shoji Tajima, Tohru Funahashi, Yuji Matsuzawa, Akira Yamamoto;
A novel point mutation in a splice acceptor site of intron 1 of the human low density lipoprotein receptor gene which causes severe hypercholesterolemia: an unexpected absence of exon skipping.
Hum. Mutat. 11:480-481(1998)

Cross-references
Cell line collections (Providers) JCRB; JCRB1712
Encyclopedic resources Wikidata; Q54951305
Entry history
Entry creation15-May-2017
Last entry update19-Dec-2024
Version number12