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Cellosaurus SMBCi009-A (CVCL_A1YZ)

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Cell line name SMBCi009-A
Synonyms FH-C3
Accession CVCL_A1YZ
Resource Identification Initiative To cite this cell line use: SMBCi009-A (RRID:CVCL_A1YZ)
Comments From: Shandong Medical Biotechnological Center; Jinan; China.
Population: Chinese; Han.
Derived from site: In situ; Urine; UBERON=UBERON_0001088.
Sequence variations
  • Mutation; HGNC; HGNC:6547; LDLR; Simple; p.His583Tyr (c.1747C>T); ClinVar=VCV000200921; Zygosity=Heterozygous (PubMed=34974203).
  • Mutation; HGNC; HGNC:6547; LDLR; Simple; p.Glu650Argfs*15 (c.1948delG); Zygosity=Heterozygous (PubMed=34974203).
Disease Hyperlipoproteinemia, type IIa (NCIt: C123416)
Homozygous familial hypercholesterolemia (ORDO: Orphanet_391665)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 8Y
Category Induced pluripotent stem cell
Publications

PubMed=34974203; DOI=10.1016/j.scr.2021.102624
Zi-Juan Qi, Ya-Zhou Cui, Liang Shi, Jing Wang, Qing-Yang Zhao, Jing Luan, Jin-Xiang Han;
Generation of a non-integrated induced pluripotent stem cell line (SMBCi009-A) from urine-derived cells of a Chinese familial hypercholesterolemia patient.
Stem Cell Res. 59:102624-102624(2022)

Cross-references
Cell line databases/resources hPSCreg; SMBCi009-A
Biological sample resources BioSamples; SAMEA7710160
Encyclopedic resources Wikidata; Q105511103
Entry history
Entry creation12-Jan-2021
Last entry update19-Dec-2024
Version number7