ID   HPCASRi002-Ae4
AC   CVCL_E4C7
RX   PubMed=39446198;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:1514; CASR; Simple_corrected; p.Ile554Serfs*73 (c.1656delA); Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=39446198).
CC   Sequence variation: Mutation; HGNC; HGNC:1514; CASR; Simple; p.Cys739Ter (c.2217T>A); Zygosity=Heterozygous (from parent cell line).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C131853; Neonatal severe primary hyperparathyroidism
DI   ORDO; Orphanet_417; Neonatal severe primary hyperparathyroidism
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_A8WH ! HPCASRi002-A
SX   Male
AG   14Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-24; Last updated: 19-12-24; Version: 1
//
RX   PubMed=39446198; DOI=10.1007/s13577-024-01135-1;
RA   Semenova P.I., Panova A.V., Sopova J.V., Krasnova O.A., Turilova V.I.,
RA   Yakovleva T.K., Kulikova K.S., Petrova D.A., Kiselev S.L., Neganova I.E.;
RT   "Generation of CRISPR/Cas9 modified human iPSC line with correction of
RT   heterozygous mutation in exon 6 of the CaSR gene.";
RL   Hum. Cell 38:6.1-6.10(2025).
//