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Cellosaurus HPCASRi002-A (CVCL_A8WH)

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Cell line name HPCASRi002-A
Synonyms hiPSC-casr2
Accession CVCL_A8WH
Resource Identification Initiative To cite this cell line use: HPCASRi002-A (RRID:CVCL_A8WH)
Comments Population: Caucasian.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:1514; CASR; Simple; p.Ile554Serfs*73 (c.1656delA); Zygosity=Heterozygous (PubMed=34111698).
  • Mutation; HGNC; HGNC:1514; CASR; Simple; p.Cys739Ter (c.2217T>A); Zygosity=Heterozygous (PubMed=34111698).
Disease Neonatal severe primary hyperparathyroidism (NCIt: C131853)
Neonatal severe primary hyperparathyroidism (ORDO: Orphanet_417)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_E4C7 (HPCASRi002-Ae4)
Sex of cell Male
Age at sampling 14Y
Category Induced pluripotent stem cell
Publications

PubMed=34111698; DOI=10.1016/j.scr.2021.102414
Alexandra V. Panova, Kristina S. Kulikova, Natalia V. Klementieva, Ivan D. Krylov, Irina O. Snezhko, Anatoly N. Tiulpakov, Sergey L'vovich Kiselev;
Generation of an induced pluripotent stem cell line HPCASRi002-A from a patient with neonatal severe primary hyperparathyroidism caused by a compound heterozygous mutation in the CASR gene.
Stem Cell Res. 54:102414-102414(2021)

Cross-references
Encyclopedic resources Wikidata; Q108820497
Entry history
Entry creation23-Sep-2021
Last entry update19-Dec-2024
Version number6