Cellosaurus logo
expasy logo

Cellosaurus HPCASRi002-Ae4 (CVCL_E4C7)

[Text version]
Cell line name HPCASRi002-Ae4
Accession CVCL_E4C7
Resource Identification Initiative To cite this cell line use: HPCASRi002-Ae4 (RRID:CVCL_E4C7)
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_corrected; p.Ile554Serfs*73 (c.1656delA); Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=39446198).
  • Mutation; HGNC; HGNC:1514; CASR; Simple; p.Cys739Ter (c.2217T>A); Zygosity=Heterozygous (from parent cell line).
Disease Neonatal severe primary hyperparathyroidism (NCIt: C131853)
Neonatal severe primary hyperparathyroidism (ORDO: Orphanet_417)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_A8WH (HPCASRi002-A)
Sex of cell Male
Age at sampling 14Y
Category Induced pluripotent stem cell
Publications

PubMed=39446198; DOI=10.1007/s13577-024-01135-1
Semenova P.I., Panova A.V., Sopova J.V., Krasnova O.A., Turilova V.I., Yakovleva T.K., Kulikova K.S., Petrova D.A., Kiselev S.L., Neganova I.E.
Generation of CRISPR/Cas9 modified human iPSC line with correction of heterozygous mutation in exon 6 of the CaSR gene.
Hum. Cell 38:6.1-6.10(2025)

Entry history
Entry creation19-Dec-2024
Last entry update19-Dec-2024
Version number1