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Cellosaurus HSCR-iPSC 1 (CVCL_VL53)

[Text version]
Cell line name HSCR-iPSC 1
Accession CVCL_VL53
Resource Identification Initiative To cite this cell line use: HSCR-iPSC 1 (RRID:CVCL_VL53)
Comments Population: Chinese.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:9967; RET; Simple; p.Glu61Argfs*163 (c.180delT); Zygosity=Heterozygous (PubMed=29965875).
Disease Hirschsprung disease (NCIt: C34700)
Hirschsprung disease (ORDO: Orphanet_388)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_VL54 ! HSCR-iPSC 2
CVCL_VL55 ! HSCR-iPSC 3
Sex of cell Sex unspecified
Age at sampling Age unspecified
Category Induced pluripotent stem cell
Publications

PubMed=29965875; DOI=10.1097/WNR.0000000000001070
Wang Y., Lai X.-Q., Huang L.-H., Liu G.-J., Zai Z.-C., Zhu D.-L., Zhang Y., Liang Z.-Y., Yao Z.-G., Chen Y.-P., Wen Z., Xia H.-M.
Establishment of an induced pluripotent stem cell model of Hirschsrpung disease, a congenital condition of the enteric nervous system, from a patient carrying a novel RET mutation.
NeuroReport 29:975-980(2018)

Cross-references
Encyclopedic resources Wikidata; Q94303056
Entry history
Entry creation07-Sep-2018
Last entry update19-Dec-2024
Version number9