Cellosaurus cell line HIMRi003-A (CVCL

Cellosaurus HIMRi003-A (CVCL_D0FA)

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Cell line name

HIMRi003-A

Synonyms

p.A46T CAV3 hiPSCs #2

Accession

CVCL_D0FA

Resource Identification Initiative

To cite this cell line use: HIMRi003-A (RRID:CVCL_D0FA)

Comments

From: Heimer Institute for Muscle Research; Bochum; Germany.
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:1529; CAV3; Simple; p.Ala46Thr (c.136G>A) (p.A47T); ClinVar=VCV000008281; Zygosity=Heterozygous (PubMed=37839261).

Disease

Rippling muscle disease 2 (NCIt: C148325)
Rippling muscle disease (ORDO: Orphanet_97238)

Species of origin

Homo sapiens (Human) (NCBI Taxonomy: 9606)

Sex of cell

Female

Age at sampling

38Y

Category

Induced pluripotent stem cell

STR profile

Source(s): PubMed=37839261

Markers:

Amelogenin	X
CSF1PO	10,11
D5S818	11,13
D8S1179	13
D16S539	11,13
FGA	24.2
TPOX	8,10
vWA	14,16

Publications

PubMed=37839261; DOI=10.1016/j.scr.2023.103220
Alexander Boeing, Lampros Mavrommatis, Nassa M. Daya, Heidi Zhuge, Leon Volke, Arif Kocabas, Moritz Kneifel, Mohammad Jamil Athamneh, Karsten Krause, Nicolina Sudkamp, Kristina Doring ...Show all 16 authors... , Carsten Theiss, Andreas Roos, Holm Zaehres, Anne-Katrin Guttsches, Matthias Vorgerd; Show fewer authors
Generation of two human iPSC lines (HIMRi002-A and HIMRi003-A) derived from caveolinopathy patients with rippling muscle disease.
Stem Cell Res. 72:103220-103220(2023)

Cross-references

Cell line databases/resources

hPSCreg; HIMRi003-A

Biological sample resources

BioSamples; SAMEA114267275

Encyclopedic resources

Wikidata; Q123031674

Entry history

Entry creation

05-Oct-2023

Last entry update

19-Dec-2024

Version number